Skin DiseasesSkin: The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.Lumpy skin disease virus: A species of CAPRIPOXVIRUS causing a cattle disease occurring in Africa.Psoriasis: A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis.Skin Diseases, Vesiculobullous: Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)Lumpy Skin Disease: A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin.Dermatitis: Any inflammation of the skin.Skin Diseases, Parasitic: Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites.Skin Neoplasms: Tumors or cancer of the SKIN.Skin Diseases, Viral: Skin diseases caused by viruses.Skin Aging: The process of aging due to changes in the structure and elasticity of the skin over time. It may be a part of physiological aging or it may be due to the effects of ultraviolet radiation, usually through exposure to sunlight.Dermatitis, Atopic: A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema.Dermatology: A medical specialty concerned with the skin, its structure, functions, diseases, and treatment.Dermatitis, Occupational: A recurrent contact dermatitis caused by substances found in the work place.Skin Diseases, Genetic: Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.Skin Physiological Phenomena: The functions of the skin in the human and animal body. It includes the pigmentation of the skin.Epidermis: The external, nonvascular layer of the skin. It is made up, from within outward, of five layers of EPITHELIUM: (1) basal layer (stratum basale epidermidis); (2) spinous layer (stratum spinosum epidermidis); (3) granular layer (stratum granulosum epidermidis); (4) clear layer (stratum lucidum epidermidis); and (5) horny layer (stratum corneum epidermidis).Acne Vulgaris: A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors.Skin Diseases, Infectious: Skin diseases caused by bacteria, fungi, parasites, or viruses.Keratinocytes: Epidermal cells which synthesize keratin and undergo characteristic changes as they move upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. Successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell.Prurigo: A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)Pemphigus: Group of chronic blistering diseases characterized histologically by ACANTHOLYSIS and blister formation within the EPIDERMIS.Skin Tests: Epicutaneous or intradermal application of a sensitizer for demonstration of either delayed or immediate hypersensitivity. Used in diagnosis of hypersensitivity or as a test for cellular immunity.Eczema: A pruritic papulovesicular dermatitis occurring as a reaction to many endogenous and exogenous agents (Dorland, 27th ed).Skin Absorption: Uptake of substances through the SKIN.Dermatitis, Seborrheic: A chronic inflammatory disease of the skin with unknown etiology. It is characterized by moderate ERYTHEMA, dry, moist, or greasy (SEBACEOUS GLAND) scaling and yellow crusted patches on various areas, especially the scalp, that exfoliate as dandruff. Seborrheic dermatitis is common in children and adolescents with HIV INFECTIONS.Pruritus: An intense itching sensation that produces the urge to rub or scratch the skin to obtain relief.Skin UlcerSkin Diseases, Bacterial: Skin diseases caused by bacteria.Rosacea: A cutaneous disorder primarily of convexities of the central part of the FACE, such as FOREHEAD; CHEEK; NOSE; and CHIN. It is characterized by FLUSHING; ERYTHEMA; EDEMA; RHINOPHYMA; papules; and ocular symptoms. It may occur at any age but typically after age 30. There are various subtypes of rosacea: erythematotelangiectatic, papulopustular, phymatous, and ocular (National Rosacea Society's Expert Committee on the Classification and Staging of Rosacea, J Am Acad Dermatol 2002; 46:584-7).Dermatomycoses: Superficial infections of the skin or its appendages by any of various fungi.Epidermolysis Bullosa: Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties.Keratosis: Any horny growth such as a wart or callus.Dermatologic Agents: Drugs used to treat or prevent skin disorders or for the routine care of skin.Pemphigoid, Bullous: A chronic and relatively benign subepidermal blistering disease usually of the elderly and without histopathologic acantholysis.Lupus Erythematosus, Cutaneous: A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms - acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID).Skin Pigmentation: Coloration of the skin.Dermatitis, Allergic Contact: A contact dermatitis due to allergic sensitization to various substances. These substances subsequently produce inflammatory reactions in the skin of those who have acquired hypersensitivity to them as a result of prior exposure.Ultraviolet Therapy: The use of ultraviolet electromagnetic radiation in the treatment of disease, usually of the skin. This is the part of the sun's spectrum that causes sunburn and tanning. Ultraviolet A, used in PUVA, is closer to visible light and less damaging than Ultraviolet B, which is ionizing.Capripoxvirus: A genus of the family POXVIRIDAE, subfamily CHORDOPOXVIRINAE, comprising poxviruses infecting sheep, goats, and cattle. Transmission is usually mechanical by arthropods, but also includes contact, airborne routes, and non-living reservoirs (fomites).National Institute of Arthritis and Musculoskeletal and Skin Diseases (U.S.): Component of the NATIONAL INSTITUTES OF HEALTH. It supports research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases; the training of basic and clinical scientists to carry out this research; and the dissemination of information on research progress. It was established in 1986.Blister: Visible accumulations of fluid within or beneath the epidermis.Tinea Pedis: Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum.Malassezia: A mitosporic fungal genus that causes a variety of skin disorders. Malassezia furfur (Pityrosporum orbiculare) causes TINEA VERSICOLOR.PUVA Therapy: Photochemotherapy using PSORALENS as the photosensitizing agent and ultraviolet light type A (UVA).Scabies: A contagious cutaneous inflammation caused by the bite of the mite SARCOPTES SCABIEI. It is characterized by pruritic papular eruptions and burrows and affects primarily the axillae, elbows, wrists, and genitalia, although it can spread to cover the entire body.Erythema: Redness of the skin produced by congestion of the capillaries. This condition may result from a variety of causes.Administration, Topical: The application of drug preparations to the surfaces of the body, especially the skin (ADMINISTRATION, CUTANEOUS) or mucous membranes. This method of treatment is used to avoid systemic side effects when high doses are required at a localized area or as an alternative systemic administration route, to avoid hepatic processing for example.Non-Fibrillar Collagens: A family of structurally-related short-chain collagens that do not form large fibril bundles.Mycobacterium ulcerans: A slow-growing mycobacterium that infects the skin and subcutaneous tissues, giving rise to indolent BURULI ULCER.Lichen Planus: An inflammatory, pruritic disease of the skin and mucous membranes, which can be either generalized or localized. It is characterized by distinctive purplish, flat-topped papules having a predilection for the trunk and flexor surfaces. The lesions may be discrete or coalesce to form plaques. Histologically, there is a "saw-tooth" pattern of epidermal hyperplasia and vacuolar alteration of the basal layer of the epidermis along with an intense upper dermal inflammatory infiltrate composed predominantly of T-cells. Etiology is unknown.Vitiligo: A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached.Dermis: A layer of vascularized connective tissue underneath the EPIDERMIS. The surface of the dermis contains innervated papillae. Embedded in or beneath the dermis are SWEAT GLANDS; HAIR FOLLICLES; and SEBACEOUS GLANDS.Hand DermatosesScleroderma, Localized: A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules.Skin Physiological Processes: Biological activities and functions of the SKIN.Desmoglein 1: A desmosomal cadherin that is an autoantigen in the acquired skin disorder PEMPHIGUS FOLIACEUS.Skin, Artificial: Synthetic material used for the treatment of burns and other conditions involving large-scale loss of skin. It often consists of an outer (epidermal) layer of silicone and an inner (dermal) layer of collagen and chondroitin 6-sulfate. The dermal layer elicits new growth and vascular invasion and the outer layer is later removed and replaced by a graft.Skin Diseases, Eczematous: Any of a variety of eruptive skin disorders characterized by erythema, oozing, vesiculation, and scaling. Etiology is varied.Ichthyosis: Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.Skin Diseases, Metabolic: Diseases of the skin associated with underlying metabolic disorders.Military HygieneDermatitis, Contact: A type of acute or chronic skin reaction in which sensitivity is manifested by reactivity to materials or substances coming in contact with the skin. It may involve allergic or non-allergic mechanisms.Skin Abnormalities: Congenital structural abnormalities of the skin.Keratoderma, Palmoplantar: Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).Acantholysis: Separation of the prickle cells of the stratum spinosum of the epidermis, resulting in atrophy of the prickle cell layer. It is seen in diseases such as pemphigus vulgaris (see PEMPHIGUS) and DARIER DISEASE.Desmoglein 3: A desmosomal cadherin that is an autoantigen in the acquired skin disorder PEMPHIGUS VULGARIS.Patch Tests: Skin tests in which the sensitizer is applied to a patch of cotton cloth or gauze held in place for approximately 48-72 hours. It is used for the elicitation of a contact hypersensitivity reaction.Staphylococcal Skin Infections: Infections to the skin caused by bacteria of the genus STAPHYLOCOCCUS.Mite Infestations: Infestations with arthropods of the subclass ACARI, superorder Acariformes.Administration, Cutaneous: The application of suitable drug dosage forms to the skin for either local or systemic effects.Agricultural Workers' Diseases: Diseases in persons engaged in cultivating and tilling soil, growing plants, harvesting crops, raising livestock, or otherwise engaged in husbandry and farming. The diseases are not restricted to farmers in the sense of those who perform conventional farm chores: the heading applies also to those engaged in the individual activities named above, as in those only gathering harvest or in those only dusting crops.Erythema Multiforme: A skin and mucous membrane disease characterized by an eruption of macules, papules, nodules, vesicles, and/or bullae with characteristic "bull's-eye" lesions usually occurring on the dorsal aspect of the hands and forearms.Ectoparasitic Infestations: Infestations by PARASITES which live on, or burrow into, the surface of their host's EPIDERMIS. Most ectoparasites are ARTHROPODS.Hidradenitis Suppurativa: A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident.Scalp DermatosesPoxviridae Infections: Virus diseases caused by the POXVIRIDAE.Dermatitis, Irritant: A non-allergic contact dermatitis caused by prolonged exposure to irritants and not explained by delayed hypersensitivity mechanisms.Pyoderma Gangrenosum: An idiopathic, rapidly evolving, and severely debilitating disease occurring most commonly in association with chronic ulcerative colitis. It is characterized by the presence of boggy, purplish ulcers with undermined borders, appearing mostly on the legs. The majority of cases are in people between 40 and 60 years old. Its etiology is unknown.Dermatitis, Exfoliative: The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)Buruli Ulcer: A lesion in the skin and subcutaneous tissues due to infections by MYCOBACTERIUM ULCERANS. It was first reported in Uganda, Africa.Warts: Benign epidermal proliferations or tumors; some are viral in origin.Ultraviolet Rays: That portion of the electromagnetic spectrum immediately below the visible range and extending into the x-ray frequencies. The longer wavelengths (near-UV or biotic or vital rays) are necessary for the endogenous synthesis of vitamin D and are also called antirachitic rays; the shorter, ionizing wavelengths (far-UV or abiotic or extravital rays) are viricidal, bactericidal, mutagenic, and carcinogenic and are used as disinfectants.Keratolytic Agents: Agents that soften, separate, and cause desquamation of the cornified epithelium or horny layer of skin. They are used to expose mycelia of infecting fungi or to treat corns, warts, and certain other skin diseases.Keratin-14: A type I keratin that is found associated with the KERATIN-5 in the internal stratified EPITHELIUM. Mutations in the gene for keratin-14 are associated with EPIDERMOLYSIS BULLOSA SIMPLEX.Scleroderma, Diffuse: A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability.Urticaria: A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress.Dermatomyositis: A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)Carcinoma, Basal Cell: A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)Keratins: A class of fibrous proteins or scleroproteins that represents the principal constituent of EPIDERMIS; HAIR; NAILS; horny tissues, and the organic matrix of tooth ENAMEL. Two major conformational groups have been characterized, alpha-keratin, whose peptide backbone forms a coiled-coil alpha helical structure consisting of TYPE I KERATIN and a TYPE II KERATIN, and beta-keratin, whose backbone forms a zigzag or pleated sheet structure. alpha-Keratins have been classified into at least 20 subtypes. In addition multiple isoforms of subtypes have been found which may be due to GENE DUPLICATION.Langerhans Cells: Recirculating, dendritic, antigen-presenting cells containing characteristic racket-shaped granules (Birbeck granules). They are found principally in the stratum spinosum of the EPIDERMIS and are rich in Class II MAJOR HISTOCOMPATIBILITY COMPLEX molecules. Langerhans cells were the first dendritic cell to be described and have been a model of study for other dendritic cells (DCs), especially other migrating DCs such as dermal DCs and INTERSTITIAL DENDRITIC CELLS.Alopecia Areata: Loss of scalp and body hair involving microscopically inflammatory patchy areas.Neurodermatitis: An extremely variable eczematous skin disease that is presumed to be a response to prolonged vigorous scratching, rubbing, or pinching to relieve intense pruritus. It varies in intensity, severity, course, and morphologic expression in different individuals. Neurodermatitis is believed by some to be psychogenic. The circumscribed or localized form is often referred to as lichen simplex chronicus.Drug Eruptions: Adverse cutaneous reactions caused by ingestion, parenteral use, or local application of a drug. These may assume various morphologic patterns and produce various types of lesions.Skin Diseases, Papulosquamous: A group of dermatoses with distinct morphologic features. The primary lesion is most commonly a papule, usually erythematous, with a variable degree of scaling on the surface. Plaques form through the coalescing of primary lesions.Emollients: Oleagenous substances used topically to soothe, soften or protect skin or mucous membranes. They are used also as vehicles for other dermatologic agents.Cells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.Desmogleins: A group of desmosomal cadherins with cytoplasmic tails that resemble those of classical CADHERINS.Autoimmune Diseases: Disorders that are characterized by the production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides.Foot Dermatoses: Skin diseases of the foot, general or unspecified.Antipruritics: Agents, usually topical, that relieve itching (pruritus).Chemokine CCL27: A CC-type chemokine with specificity for CCR10 RECEPTORS. It is constitutively expressed in the skin and may play a role in T-CELL trafficking during cutaneous INFLAMMATION.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.Immunoglobulin E: An immunoglobulin associated with MAST CELLS. Overexpression has been associated with allergic hypersensitivity (HYPERSENSITIVITY, IMMEDIATE).Dermcidins: 47-amino acid peptides secreted by ECCRINE GLANDS and having a role in innate cutaneous defense, being antimicrobial to some pathogenic BACTERIA. They are overexpressed by some primary BREAST CANCER cells. They are derived from 110 residue PROTEIN PRECURSORS.Parapsoriasis: The term applied to a group of relatively uncommon inflammatory, maculopapular, scaly eruptions of unknown etiology and resistant to conventional treatment. Eruptions are both psoriatic and lichenoid in appearance, but the diseases are distinct from psoriasis, lichen planus, or other recognized dermatoses. Proposed nomenclature divides parapsoriasis into two distinct subgroups, PITYRIASIS LICHENOIDES and parapsoriasis en plaques (small- and large-plaque parapsoriasis).Coal Tar: A by-product of the destructive distillation of coal used as a topical antieczematic. It is an antipruritic and keratoplastic agent used also in the treatment of psoriasis and other skin conditions. Occupational exposure to soots, tars, and certain mineral oils is known to be carcinogenic according to the Fourth Annual Report on Carcinogens (NTP 85-002, 1985) (Merck Index, 11th ed).Ichthyosis, Lamellar: A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate.Folliculitis: Inflammation of follicles, primarily hair follicles.Alopecia: Absence of hair from areas where it is normally present.Methoxsalen: A naturally occurring furocoumarin compound found in several species of plants, including Psoralea corylifolia. It is a photoactive substance that forms DNA ADDUCTS in the presence of ultraviolet A irradiation.Sebaceous Glands: Small, sacculated organs found within the DERMIS. Each gland has a single duct that emerges from a cluster of oval alveoli. Each alveolus consists of a transparent BASEMENT MEMBRANE enclosing epithelial cells. The ducts from most sebaceous glands open into a HAIR FOLLICLE, but some open on the general surface of the SKIN. Sebaceous glands secrete SEBUM.Dog Diseases: Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used.Ointments: Semisolid preparations used topically for protective emollient effects or as a vehicle for local administration of medications. Ointment bases are various mixtures of fats, waxes, animal and plant oils and solid and liquid hydrocarbons.Wound Healing: Restoration of integrity to traumatized tissue.Autoantibodies: Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.Inflammation: A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function.Larva Migrans: Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in man. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.Irritants: Drugs that act locally on cutaneous or mucosal surfaces to produce inflammation; those that cause redness due to hyperemia are rubefacients; those that raise blisters are vesicants and those that penetrate sebaceous glands and cause abscesses are pustulants; tear gases and mustard gases are also irritants.Desmosomes: A type of junction that attaches one cell to its neighbor. One of a number of differentiated regions which occur, for example, where the cytoplasmic membranes of adjacent epithelial cells are closely apposed. It consists of a circular region of each membrane together with associated intracellular microfilaments and an intercellular material which may include, for example, mucopolysaccharides. (From Glick, Glossary of Biochemistry and Molecular Biology, 1990; Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Stevens-Johnson Syndrome: Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis.Antiparasitic Agents: Drugs used to treat or prevent parasitic infections.Hyperkeratosis, Epidermolytic: A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.Ivermectin: A mixture of mostly avermectin H2B1a (RN 71827-03-7) with some avermectin H2B1b (RN 70209-81-3), which are macrolides from STREPTOMYCES avermitilis. It binds glutamate-gated chloride channel to cause increased permeability and hyperpolarization of nerve and muscle cells. It also interacts with other CHLORIDE CHANNELS. It is a broad spectrum antiparasitic that is active against microfilariae of ONCHOCERCA VOLVULUS but not the adult form.Skin Diseases, Vascular: Skin diseases affecting or involving the cutaneous blood vessels and generally manifested as inflammation, swelling, erythema, or necrosis in the affected area.Lichen Sclerosus et Atrophicus: A chronic inflammatory mucocutaneous disease usually affecting the female genitalia (VULVAR LICHEN SCLEROSUS) and BALANITIS XEROTICA OBLITERANS in males. It is also called white spot disease and Csillag's disease.Dermatitis Herpetiformis: Rare, chronic, papulo-vesicular disease characterized by an intensely pruritic eruption consisting of various combinations of symmetrical, erythematous, papular, vesicular, or bullous lesions. The disease is strongly associated with the presence of HLA-B8 and HLA-DR3 antigens. A variety of different autoantibodies has been detected in small numbers in patients with dermatitis herpetiformis.Onchocerciasis: Infection with nematodes of the genus ONCHOCERCA. Characteristics include the presence of firm subcutaneous nodules filled with adult worms, PRURITUS, and ocular lesions.Prevalence: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.Hair Follicle: A tube-like invagination of the EPIDERMIS from which the hair shaft develops and into which SEBACEOUS GLANDS open. The hair follicle is lined by a cellular inner and outer root sheath of epidermal origin and is invested with a fibrous sheath derived from the dermis. (Stedman, 26th ed) Follicles of very long hairs extend into the subcutaneous layer of tissue under the SKIN.Impetigo: A common superficial bacterial infection caused by STAPHYLOCOCCUS AUREUS or group A beta-hemolytic streptococci. Characteristics include pustular lesions that rupture and discharge a thin, amber-colored fluid that dries and forms a crust. This condition is commonly located on the face, especially about the mouth and nose.Biopsy: Removal and pathologic examination of specimens in the form of small pieces of tissue from the living body.Injections, Intradermal: The forcing into the skin of liquid medication, nutrient, or other fluid through a hollow needle, piercing the top skin layer.Molluscum Contagiosum: A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (MOLLUSCUM CONTAGIOSUM VIRUS). (Dorland, 27th ed)Bowen's Disease: A persistent progressive non-elevated red scaly or crusted plaque which is due to an intradermal carcinoma and is potentially malignant. Atypical squamous cells proliferate through the whole thickness of the epidermis. The lesions may occur anywhere on the skin surface or on mucosal surfaces. The cause most frequently found is trivalent arsenic compounds. Freezing, cauterization or diathermy coagulation is often effective. (From Rook et al., Textbook of Dermatology, 4th ed, pp2428-9)Autoantigens: Endogenous tissue constituents that have the ability to interact with AUTOANTIBODIES and cause an immune response.Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.Erythrokeratodermia Variabilis: An autosomal dominant skin disease characterized by transient and variable noninflammatory ERYTHEMA and hyperkeratosis. It has been associated with mutations in the genes that code for CONNEXINS. Erythrokeratodermia variabilis inherited in an autosomal recessive fashion has also been reported. Affected individuals often develop PALMOPLANTAR KERATODERMA.Mycosis Fungoides: A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected.Epidermolysis Bullosa, Junctional: Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane.Arthritis, Psoriatic: A type of inflammatory arthritis associated with PSORIASIS, often involving the axial joints and the peripheral terminal interphalangeal joints. It is characterized by the presence of HLA-B27-associated SPONDYLARTHROPATHY, and the absence of rheumatoid factor.Intermediate Filament Proteins: Filaments 7-11 nm in diameter found in the cytoplasm of all cells. Many specific proteins belong to this group, e.g., desmin, vimentin, prekeratin, decamin, skeletin, neurofilin, neurofilament protein, and glial fibrillary acid protein.Cytokines: Non-antibody proteins secreted by inflammatory leukocytes and some non-leukocytic cells, that act as intercellular mediators. They differ from classical hormones in that they are produced by a number of tissue or cell types rather than by specialized glands. They generally act locally in a paracrine or autocrine rather than endocrine manner.Dermatologic Surgical Procedures: Operative procedures performed on the SKIN.T-Lymphocytes: Lymphocytes responsible for cell-mediated immunity. Two types have been identified - cytotoxic (T-LYMPHOCYTES, CYTOTOXIC) and helper T-lymphocytes (T-LYMPHOCYTES, HELPER-INDUCER). They are formed when lymphocytes circulate through the THYMUS GLAND and differentiate to thymocytes. When exposed to an antigen, they divide rapidly and produce large numbers of new T cells sensitized to that antigen.Epidermolysis Bullosa Simplex: A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex.Lymphoma, T-Cell, Cutaneous: A group of lymphomas exhibiting clonal expansion of malignant T-lymphocytes arrested at varying stages of differentiation as well as malignant infiltration of the skin. MYCOSIS FUNGOIDES; SEZARY SYNDROME; LYMPHOMATOID PAPULOSIS; and PRIMARY CUTANEOUS ANAPLASTIC LARGE CELL LYMPHOMA are the best characterized of these disorders.Photosensitivity Disorders: Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.Mice, Inbred C57BLScleroderma, Systemic: A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA.Ear: The hearing and equilibrium system of the body. It consists of three parts: the EXTERNAL EAR, the MIDDLE EAR, and the INNER EAR. Sound waves are transmitted through this organ where vibration is transduced to nerve signals that pass through the ACOUSTIC NERVE to the CENTRAL NERVOUS SYSTEM. The inner ear also contains the vestibular organ that maintains equilibrium by transducing signals to the VESTIBULAR NERVE.Skin Cream: A water-soluble medicinal preparation applied to the skin.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Croton Oil: Viscous, nauseating oil obtained from the shrub Croton tiglium (Euphorbaceae). It is a vesicant and skin irritant used as pharmacologic standard for skin inflammation and allergy and causes skin cancer. It was formerly used as an emetic and cathartic with frequent mortality.Photomicrography: Photography of objects viewed under a microscope using ordinary photographic methods.Mice, Hairless: Mutant strains of mice that produce little or no hair.Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.Anti-Allergic Agents: Agents that are used to treat allergic reactions. Most of these drugs act by preventing the release of inflammatory mediators or inhibiting the actions of released mediators on their target cells. (From AMA Drug Evaluations Annual, 1994, p475)Interleukin-17: A proinflammatory cytokine produced primarily by T-LYMPHOCYTES or their precursors. Several subtypes of interleukin-17 have been identified, each of which is a product of a unique gene.Sarcoptes scabiei: A species of mite that causes SCABIES in humans and sarcoptic mange in other animals. Specific variants of S. scabiei exist for humans and animals, but many have the ability to cross species and cause disease.Anti-Inflammatory Agents: Substances that reduce or suppress INFLAMMATION.Ichthyosis Vulgaris: Most common form of ICHTHYOSIS characterized by prominent scaling especially on the exterior surfaces of the extremities. It is inherited as an autosomal dominant trait.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Dinitrofluorobenzene: Irritants and reagents for labeling terminal amino acid groups.Histamine H1 Antagonists: Drugs that selectively bind to but do not activate histamine H1 receptors, thereby blocking the actions of endogenous histamine. Included here are the classical antihistaminics that antagonize or prevent the action of histamine mainly in immediate hypersensitivity. They act in the bronchi, capillaries, and some other smooth muscles, and are used to prevent or allay motion sickness, seasonal rhinitis, and allergic dermatitis and to induce somnolence. The effects of blocking central nervous system H1 receptors are not as well understood.Collagen Type VII: A non-fibrillar collagen involved in anchoring the epidermal BASEMENT MEMBRANE to underlying tissue. It is a homotrimer comprised of C-terminal and N-terminal globular domains connected by a central triple-helical region.Histamine H1 Antagonists, Non-Sedating: A class of non-sedating drugs that bind to but do not activate histamine receptors (DRUG INVERSE AGONISM), thereby blocking the actions of histamine or histamine agonists. These antihistamines represent a heterogenous group of compounds with differing chemical structures, adverse effects, distribution, and metabolism. Compared to the early (first generation) antihistamines, these non-sedating antihistamines have greater receptor specificity, lower penetration of BLOOD-BRAIN BARRIER, and are less likely to cause drowsiness or psychomotor impairment.Telepathology: Transmission and interpretation of tissue specimens via remote telecommunication, generally for the purpose of diagnosis or consultation but may also be used for continuing education.Medicine, Traditional: Systems of medicine based on cultural beliefs and practices handed down from generation to generation. The concept includes mystical and magical rituals (SPIRITUAL THERAPIES); PHYTOTHERAPY; and other treatments which may not be explained by modern medicine.Darier Disease: An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Epidermolysis Bullosa Dystrophica: Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.Cathelicidins: Antimicrobial cationic peptides with a highly conserved amino terminal cathelin-like domain and a more variable carboxy terminal domain. They are initially synthesized as preproproteins and then cleaved. They are expressed in many tissues of humans and localized to EPITHELIAL CELLS. They kill nonviral pathogens by forming pores in membranes.Immunosuppressive Agents: Agents that suppress immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-CELLS or by inhibiting the activation of HELPER CELLS. While immunosuppression has been brought about in the past primarily to prevent rejection of transplanted organs, new applications involving mediation of the effects of INTERLEUKINS and other CYTOKINES are emerging.Antimicrobial Cationic Peptides: Small cationic peptides that are an important component, in most species, of early innate and induced defenses against invading microbes. In animals they are found on mucosal surfaces, within phagocytic granules, and on the surface of the body. They are also found in insects and plants. Among others, this group includes the DEFENSINS, protegrins, tachyplesins, and thionins. They displace DIVALENT CATIONS from phosphate groups of MEMBRANE LIPIDS leading to disruption of the membrane.Otitis Externa: Inflammation of the OUTER EAR including the external EAR CANAL, cartilages of the auricle (EAR CARTILAGE), and the TYMPANIC MEMBRANE.Plant Extracts: Concentrated pharmaceutical preparations of plants obtained by removing active constituents with a suitable solvent, which is evaporated away, and adjusting the residue to a prescribed standard.Occupational Exposure: The exposure to potentially harmful chemical, physical, or biological agents that occurs as a result of one's occupation.Chronic Disease: Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care. (Dictionary of Health Services Management, 2d ed)Severity of Illness Index: Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.Allergens: Antigen-type substances that produce immediate hypersensitivity (HYPERSENSITIVITY, IMMEDIATE).Cat Diseases: Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as CHEETAHS; LIONS; tigers, cougars, panthers, leopards, and other Felidae for which the heading CARNIVORA is used.Onchocerca volvulus: A species of parasitic nematodes widely distributed throughout central Africa and also found in northern South America, southern Mexico, and Guatemala. Its intermediate host and vector is the blackfly or buffalo gnat.Mice, Knockout: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.Melanocytes: Mammalian pigment cells that produce MELANINS, pigments found mainly in the EPIDERMIS, but also in the eyes and the hair, by a process called melanogenesis. Coloration can be altered by the number of melanocytes or the amount of pigment produced and stored in the organelles called MELANOSOMES. The large non-mammalian melanin-containing cells are called MELANOPHORES.Phototherapy: Treatment of disease by exposure to light, especially by variously concentrated light rays or specific wavelengths.Proteinase Inhibitory Proteins, Secretory: Peptides and proteins found in BODILY SECRETIONS and BODY FLUIDS that are PROTEASE INHIBITORS. They play a role in INFLAMMATION, tissue repair and innate immunity (IMMUNITY, INNATE) by inhibiting endogenous proteinases such as those produced by LEUKOCYTES and exogenous proteases such as those produced by invading microorganisms.Immunoglobulin G: The major immunoglobulin isotype class in normal human serum. There are several isotype subclasses of IgG, for example, IgG1, IgG2A, and IgG2B.Cell Differentiation: Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs.Mice, Inbred BALB CMycobacterium Infections, Nontuberculous: Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see MYCOBACTERIUM AVIUM COMPLEX;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae.Hydroxychloroquine: A chemotherapeutic agent that acts against erythrocytic forms of malarial parasites. Hydroxychloroquine appears to concentrate in food vacuoles of affected protozoa. It inhibits plasmodial heme polymerase. (From Gilman et al., Goodman and Gilman's The Pharmacological Basis of Therapeutics, 9th ed, p970)Mice, Mutant Strains: Mice bearing mutant genes which are phenotypically expressed in the animals.Gene Expression Regulation: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.Psoralens: Linear furanocoumarins which are found in many PLANTS, especially UMBELLIFERAE and RUTACEAE, as well as PSORALEA from which they were originally discovered. They can intercalate DNA and, in an UV-initiated reaction of the furan portion, alkylate PYRIMIDINES, resulting in PHOTOSENSITIVITY DISORDERS.Papilloma: A circumscribed benign epithelial tumor projecting from the surrounding surface; more precisely, a benign epithelial neoplasm consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic cells. (Stedman, 25th ed)Edema: Abnormal fluid accumulation in TISSUES or body cavities. Most cases of edema are present under the SKIN in SUBCUTANEOUS TISSUE.Signal Transduction: The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
UCLA/VA Researchers discover fat gene James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: ... These are often characterized by insulin resistance and are associated with metabolic syndrome. Keppen-Lubinsky syndrome ... Physical and Biochemical Changes in HIV Disease Eric S. Daar, M.D. MedicineNet, Accessed 22 September 2007 Carr A, Workman C, ... A lipodystrophy can be a lump or small dent in the skin that forms when a person performs injections repeatedly in the same ...
The metabolic disorder of the Hartnup disease. Q. J. Med. 29: 407-421 Lidija Kandolf Sekulovic. "Hartnup Disease". Retrieved ... 2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0. Seow HF, Brer S, Brer A, ... The causative gene, SLC6A19, is located on chromosome 5. Hartnup disease manifests during infancy with variable clinical ... Hartnup disease (also known as "pellagra-like dermatosis" and "Hartnup disorder") is an autosomal recessive metabolic disorder ...
... gene), a candidate colorectal tumor suppressor gene 3-Methylcrotonyl-CoA carboxylase deficiency, an inherited metabolic ... the Latin name for Coronary artery disease Mucociliary clearance Matthews correlation coefficient, in machine learning MCC ... disorder Merkel cell carcinoma, a rare and aggressive cancer of the skin Morbus cordis coronarius, ...
Fabry disease, cystinosis, tyrosine transaminase deficiency, systemic lysosomal storage diseases, and several skin diseases (X- ... these individuals were affected hemizygous males and asymptomatic female carriers of an X-linked systemic metabolic disease ... and UBIAD1 genes. Mutations in TGFBI which encodes transforming growth factor beta induced cause several forms of corneal ... Basic&Clinical Science Course; External disease and cornea (2011-2012 ed.). American Academy of Ophthalmology. 2012. ISBN ...
In Farber Disease, the gene responsible for making this enzyme is mutated. Hence, the fatty material is never broken down and, ... 2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0. ... synd/453 at Who Named It? Farber S (1952). "A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with ... Most children with Farber disease die by age 2, usually from lung disease. In one of the most severe forms of the disease, an ...
Copper in health Folliculitis decalvans Hereditary copper metabolic diseases List of cutaneous conditions List of radiographic ... Mutations in the ATP7A gene such as deletions and insertions lead to parts of the gene being deleted, resulting in a shortened ... Andrews Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. p. 765. ISBN 0-7216-2921-0. "Menkes syndrome" at ... Even though the disease is more common in males, females can still be a carrier of the disease. As the result of a mutation in ...
Mutations in this gene have been associated with the development of leiomyomas in the skin and uterus in combination with renal ... Mutations in the production and development of fumarase have led to the discovery of several fumarase-related diseases in ... This enzyme participates in 2 metabolic pathways: citric acid cycle, reductive citric acid cycle (CO2 fixation), and is also ... The FH gene is localized to the chromosomal position 1q42.3-q43. The FH gene contains 10 exons. Crystal structures of fumarase ...
August 1950-An arthritis program was established within the National Institute of Arthritis and Metabolic Diseases under Public ... the application of fundamental knowledge of bone cell biology to the development of drug and gene therapies for bone diseases, ... Skin Biology and Diseases-support a broad portfolio of basic, translational, and clinical research in skin. These efforts ... one on arthritis and musculoskeletal diseases and one on skin diseases. It also expanded the activities of the National ...
In chronic inflammatory diseases like atopic dermatitis (skin), rheumatoid arthritis (joints),…, the side effects of ... These target genes encode proteins such as cyclooxygenase, NO synthase, phospholipase A2, tumor necrosis factor, transforming ... Systemic long-term treatment of inflammations with corticosteroids is particularly liable to cause metabolic side-effects, ... For example, skin atrophy in rats was significantly less pronounced than under prednisolone in a study using the SEGRAM ...
Dermatology is concerned with the skin and its diseases. In the UK, dermatology is a subspecialty of general medicine. ... Many modern molecular tests such as flow cytometry, polymerase chain reaction (PCR), immunohistochemistry, cytogenetics, gene ... metabolic pathway, blood flow, or other), and a radionuclide (usually either a gamma-emitter or a positron emitter). There is a ... listen)) is the science and practice of the diagnosis, treatment, and prevention of disease.[4][5] The word "medicine" is ...
Different areas of the skin may exhibit hair loss and regrowth at the same time. The disease may also go into remission for a ... Endogenous retinoids metabolic defect is a key part of the pathogenesis of the alopecia areata.[13] ... This study identified at least four regions in the genome that are likely to contain these genes.[10] In addition, alopecia ... Dermatologic Disease Database. Retrieved on December 3, 2007.. *^ a b c d e f g h i Zoe Diana Draelos (August 30, ...
C. globosum can induce petechia and skin lesions, as well as phaeohyphomycosis and brain abscess. The latter diseases are very ... Aspiroz, C.; Gene, J.; Rezusta, A.; Charlez, L.; Summerbell, R. (2007). "First Spanish case of onychomycosis caused by ... Heavy metals such as copper, suppress plant growth and disrupt metabolic processes, e.g. photosynthesis. When maize plants were ... The disease symptoms were cured with antifungal terbinafine and amorolfine treatment. Amphotercin B is ineffective towards ...
PXE has the distinction of being the only disease for which a layperson is the discover of the mutated gene. The ABCC6 gene ... Recent studies hypothesize that PXE is a metabolic disease, and that its features arise because metabolites of vitamin K cannot ... The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis.[2] ... The disease occurs in all ethnicities, but Afrikaners are more likely to have PXE as a result of a founder effect (i.e. it was ...
... and occur when a defective gene causes an enzyme deficiency.[6] These diseases, of which there are many subtypes, are known as ... Skin test. *Hearing test. ManagementEdit. Metabolic disorders can be treatable by nutrition management, especially if detected ... A metabolic disorder can happen when abnormal chemical reactions in the body alter the normal metabolic process.[3] It can also ... Hoffmann, Georg F.; Zschocke, Johannes; Nyhan, William L. (21 November 2009). Inherited Metabolic Diseases: A Clinical Approach ...
Affected infants often have immunodeficiency diseases, difficulty feeding, breathing problems, a skin rash, hair loss (alopecia ... Mutations in the HLCS gene cause holocarboxylase synthetase deficiency. The HLCS gene makes an enzyme, holocarboxylase ... Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to use the vitamin biotin ... This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. The ...
His research led the way in establishing the gene defect in the vitamin A metabolic cycle that ultimately directed researchers ... He and his colleagues are taking the new genetic information, creating models of disease, and then working to develop potential ... This effort includes successfully converting a patient's skin cells to stem cells, and then to retinal precursor cells to ... Stone's lab has been a leader in discovering and characterizing genes that cause retinal degenerations such as retinitis ...
... ranging from brain tumors to skin diseases. Dexamethasone and its derivatives are almost pure glucocorticoids, while prednisone ... Two genes of interest are CHRH1 (corticotropin-releasing hormone receptor 1) and TBX21 (transcription factor T-bet). Both genes ... Metabolic: Corticosteroids cause a movement of body fat to the face and torso, resulting respectively in "moon face" and " ... When topical steroid medication is lost, the skin experiences redness, burning, itching, hot skin, swelling, and/or oozing for ...
... multiple sclerosis and metabolic diseases must also be considered in the differential diagnosis. ECD is not a common cause of ... It would appear that approximately half these patients harbor point mutations of the BRAF gene at codon 600 substituting the ... This can include kidney, skin, brain and lung involvement, and less frequently retroorbital tissue, pituitary gland and heart ... Erdheim-Chester disease (also known as Erdheim-Chester syndrome or polyostotic sclerosing histiocytosis) is a rare disease ...
Fabry disease, cystinosis, tyrosine transaminase deficiency, systemic lysosomal storage diseases, and several skin diseases (X- ... these individuals were affected hemizygous males and asymptomatic female carriers of an X-linked systemic metabolic disease ... and UBIAD1 genes. Mutations in TGFBI which encodes transforming growth factor beta induced cause several forms of corneal ... These diseases share many traits: They are usually inherited. They affect the right and left eyes equally. They are not caused ...
Journal of Inherited Metabolic Disease. 33 Suppl 3: S1-4. doi:10.1007/s10545-008-1037-0. PMID 24137761. Wahlin, S.; Marschall, ...[full citation needed] Michaels, BD; Del ... Mutation of the gene that encodes for ferrochelatase in the long arm of chromosome 18 is found in majority of the cases. ... It includes cholelithiasis, mild parenchymal liver disease, progressive hepatocellular disease and end-stage liver disease. A ...
James, William D.; Berger, Timothy G. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0- ... Cox TM (June 1997). "Erythropoietic protoporphyria". Journal of Inherited Metabolic Disease. 20 (2): 258-69. doi:10.1023/A: ... Imoto S, Tanizawa Y, Sato Y, Kaku K, Oka Y (July 1996). "A novel mutation in the ferrochelatase gene associated with ... Ferrochelatase (or protoporphyrin ferrochelatase) is an enzyme that is encoded by the FECH gene in humans. Ferrochelatase ...
... and metabolic bone diseases. In osteoclasts, TRAP is localized within the ruffled border area, the lysosomes, the Golgi ... The TRAP gene has been cloned and sequenced in porcine, rat, human, and murine species. Human, murine, and porcine TRAP genes ... In newborn rats, TRAP is also detectable in the spleen, thymus, liver, kidneys, skin, lung, and heart at low levels. TRAP ... "Multiple tissue-specific promoters control expression of the murine tartrate-resistant acid phosphatase gene". Gene. 307: 111- ...
The PAH gene is located on chromosome 12 in the bands 12q22-q24.1. More than 400 disease-causing mutations have been found in ... Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University. Springer. p. 91. ISBN 9783319146218. ... The disease may present clinically with seizures, hypopigmentation (excessively fair hair and skin), and a "musty odor" to the ... It was recently suggested that PKU may resemble amyloid diseases, such as Alzheimer's disease and Parkinson's disease, due to ...
... which is itself produced when a bacterium is transformed by a gene from the β prophage. Several species cause disease in ... glutamicum in which core metabolic enzymes are manipulated through genetic engineering to drive metabolic flux towards the ... The nondiphtheiroid Corynebacterium species can even be found in the mucosa and normal skin flora of humans and animals. ... The metabolic pathways of Corynebacterium have been further manipulated to produce lysine and threonine.[citation needed] L- ...
These disorders include certain endocrine diseases (hypo- and hyperthyroidism, hyperprolactinemia), metabolic disorders ( ... Although single genes are neither necessary nor sufficient for anxiety by themselves, several gene polymorphisms have been ... Cutaneous, as perspiration, or itchy skin. Uro-genital, as frequent urination, urinary urgency, dyspareunia, or impotence. The ... celiac disease, non-celiac gluten sensitivity, inflammatory bowel disease), heart diseases, blood diseases (anemia), cerebral ...
Diseases of the endocrine system (ICD-10 Chapter IV: Endocrine, nutritional and metabolic diseases - Endocrine diseases, E00- ... All of these genes together still only account for 10% of the total heritable component of the disease.[41] The TCF7L2 allele, ... Other complications include hyperpigmentation of skin (acanthosis nigricans), sexual dysfunction, and frequent infections.[23] ... Diabetes was one of the first diseases described.[21] The importance of insulin in the disease was determined in the 1920s.[22] ...
... as Verneuils disease. Although the name hidradenitis suppurativa implies a ... is a chronic inflammatory skin condition that is also known as acne inversa and, historically, ... Weedon D. Diseases of cutaneous appendages. In: Weedons Skin Pathology, 3rd ed, Elsevier Limited, Edinburgh 2010. p.397. ... PSTPIP1 gene mutation in a pyoderma gangrenosum, acne and suppurative hidradenitis (PASH) syndrome. Br J Dermatol 2016; 175:194 ...
This finding suggests that site-specific pathogen pressures help shape skin microbial communities. ... From toad skin swabs, we detected higher proportions of bacteria with antifungal properties in Queensland, where toad and ... Wang Y, Zhang R, He Z, Van Nostrand JD, Zheng Q, Zhou J, et al. Functional gene diversity and metabolic potential of the ... Disease Exposure and Antifungal Bacteria on Skin of Invasive Cane Toads, Australia. Emerging Infectious Diseases. 2019;25(9): ...
Because Malassezia-associated skin diseases are relatively accessible for study, these diseases could become models to study ... The notable predicted metabolic deficiency is the apparent absence of a gene encoding fatty acid synthase, a deficiency ... Secreted proteins: gene expression and gene clusters. (A) Transcripts for lipase and phospholipase genes were detected from M. ... C1-6 refer to gene cluster names, with the contig numbers, gene numbers, and predicted gene functions listed in SI Table 12. ...
... their novel approach with skin transplantation could enable a wide range of gene-based therapies to treat many human diseases. ... A University of Chicago-based research team has overcome challenges that have limited gene therapy and demonstrated how ... Or it could function as a metabolic sink, removing various toxins.". Skin progenitor cells have several unique advantages that ... Gene therapy via skin could treat diseases such as obesity By John Easton ...
Oxidative stress and altered gene expression occurs in a metabolic liver disease model. 4. National Heart Centre Singapore ... Cells from skin create model of blinding eye disease. 2. Reducing radiation: Heart Institute model shows hope for new standards ... Controlling gene expression: How chromatin remodelers block a histone pass. 10. New model gives hands-on help for learning the ... Study co-author Professor Ren Rizzoli, Professor of Medicine and Head of the Division of Bone Disease at the University ...
Skin lesions in a patient with Cobalamin C disease in poor metabolic control. ... Journal of Inherited Metabolic Disease > Ausgabe 2/2018 Autoren:. Kimberly A. Chapman, Julian Ostrovsky, Meera Rao, Stephen D. ... Journal of Inherited Metabolic Disease Official Journal of the Society for the Study of Inborn Errors of Metabolism Ausgabe 2/ ... Here, we report the global metabolic effects of deletion in a single PCC gene, either pcca-1 or pccb-1, in C. elegans. Animal ...
Metabolic Diseases (NIAMD; later the National Institute of Arthritis and Musculoskeletal and Skin Diseases) in Maryland, where ... While there he conducted research to isolate enzymes and genes involved in the biosynthesis of the amino acid histidine. He ... Other articles where National Institute of Arthritis and Musculoskeletal and Skin Diseases is discussed: Bruce Ames: Education ... Metabolic Diseases (NIAMD; later the National Institute of Arthritis and Musculoskeletal and Skin Diseases) in Maryland, where ...
Firm Up that Skin with Loose RNA. News Anorexia Partly a Metabolic Disorder, Suggests Genomic Study. ... Rare and Neglected Diseases. Ophthotech Expands Eye Disease Pipelines of Small Molecule, Gene Therapy Candidates. October 31, ... Targeting Best Disease. Ophthotech is also expanding its pipeline of gene therapy programs for eye diseases through its second ... gene therapy candidates for Best disease, an orphan inherited degenerative retinal disease caused by mutations in the BEST1 ...
2.National Institute of Arthritis and Musculoskeletal and Skin DiseasesNational Institute of HealthBethesdaUSA ... Ectopic expression of SOD and APX genes in Arabidopsis alters metabolic pools and genes related to secondary cell wall ... Waditee R, Bhuiyan MNH, Rai V, Aoki K, Tanaka Y, Hibino T, Suzukim S, Takanom J, Jagendorf AT, Takabe T, Takabe T (2005) Genes ... Qin H, Gu Q, Zhang J, Sun L, Kuppu S, Zhang Y et al (2011) Regulated expression of an isopentenyltransferase gene (IPT) in ...
The National Clinical Programme for Rare Diseases was established on the 2nd December 2013, as a joint iniatitive between the ... Neurological disorders and neuro-metabolic disorders. *Rare skin disorders. *Rare kidney diseases ... The scope of the National Clinical Programme for Rare Diseases includes the following disease categories:. *Single gene ... A rare disease is defined in Europe as a life-threatening or chronically debilitating disease affecting no more than 5 people ...
Psoriasis is a chronic skin inflammatory disease that features scaly and erythematous plaques; it is thought to result from the ... It is associated with insulin resistance, metabolic syndrome, and cardiovascular disease.. PCOS is a chronic anovulation ... combined interaction between genes, the immune system, and endocrine system. ... Comorbidities associated with insulin resistance or metabolic syndrome (coronary artery disease, diabetes, hyperlipidemia, and ...
Skin Diseases. Pathological Conditions, Anatomical. Lysosomal Storage Diseases, Nervous System. Brain Diseases, Metabolic, ... GLA gene mutations associated with the classic form of Fabry disease or having alpha-galactosidase A activity that is ... Cardiovascular Diseases. Genetic Diseases, X-Linked. Genetic Diseases, Inborn. Lysosomal Storage Diseases. Metabolic Diseases. ... Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System Diseases. Cerebral Small Vessel ...
... cells derived from skin cells of people with an inherited metabolic liver disease. The researchers then developed the stem ... A genetic cure for the disease would require completely replacing the mutated gene because any remaining dysfunctional protein ... You can't just put in a normal copy because that's not sufficient to change the disease, says Allan Bradley, a ... an engineered molecule called a zinc-finger nuclease to find and cleave the faulty A1AT gene in iPS cells derived from skin ...
EPP is a metabolic disease that causes photosensitivity, and more specifically, a painful skin reaction to sunlight. It is ... FECH gene SNPs in SNPedia associated with erythropoietic protoporphyria, and the microarrays testing them when known, include: ... caused by a defect in the Ferrochelatase enzyme (coded for by the FECH gene), the final step in synthesizing heme. ...
... resulted in the same disease phenotype led the authors to speculate that both enzymes might participate in the same metabolic ... Genetic evidence links mutations in the coding sequence of the human eLOX3 gene to the development of an inherited skin disease ... The lipoxygenase gene ALOXE3 implicated in skin differentiation encodes a hydroperoxide isomerase. Zheyong Yu, Claus Schneider ... The disease is characterized by hyperkeratosis and epidermal dysfunction, leading to a white, flaky skin with transepidermal ...
Krystal Biotech (Gene therapy KB103 for skin disease). *Medeor Therapeutics Transplant Immune Tolerance ... Magenta (MGTA-456 for Inherited Metabolic Disorders). *Mallinckrodt/Stratatechs Stratagraft. *Mesoblast (Heart Failure, ... Attack Heart Failure HIV Huntingtons Disease Kidney Disease Liver Disease Lupus MS Parkinsons Disease Spine injury or disease ... Judes (MB-107 lentiviral gene therapy for X-linked Severe Combined Immunodeficiency (XSCID)) ...
Krystal Biotech (Gene therapy KB103 for skin disease). *Magenta (MGTA-456 for Inherited Metabolic Disorders) ... Voyager Therapeutics (VY-AADC for the Treatment of Parkinsons Disease). Share this:. *Click to share on Twitter (Opens in new ... MB-107 lentiviral gene therapy for X-linked Severe Combined Immunodeficiency XSCID ... Judes (MB-107 lentiviral gene therapy for X-linked Severe Combined Immunodeficiency (XSCID)) ...
Recent evidence has shown that metabolic enzyme call UGT in the genes call UDP-glucuronosyltransferases were shown to have ... Aberrant regulation of these signaling pathways can lead to human diseases including cancer. ... expression levels of metabolic enzymes in normal skin versus precancerous lesions or skin cancer [ Time Frame: 1 month ]. ... Role of Metabolic Enzymes in Non-Melanoma Skin Cancer. The safety and scientific validity of this study is the responsibility ...
... in human TLR genes have been associated with disease. There are few studies on associations between polymorphisms in TLR genes ... Background - Canine atopic dermatitis (CAD) is an inflammatory and pruritic allergic skin disease caused by interactions ... PKP2 constitutes a crucial component of desmosomes and also is important in signalling, metabolic and transcriptional ... Elevated total plasma homocysteine (tHcy) is a risk factor for cardiovascular disease and neurocognitive disease such as ...
There are three main types of skin cancer: basal cell carcinoma, squamous cell carcinoma and malignant melanoma. Basal cell ... Visphota kushta (blistering skin disease) is characterized by transparent blisters with thin skin covering. Management of ... Metabolic adaptation in cancer cells is important for cancer cell survival. Alternation in cellular metabolism getting more ... We initially analyzed the public transcriptome of urothelial carcinoma in Gene Expression Omnibus database (GSE31684) with ...
LncRNAs are thought to play a role in several diseases, including autoimmune disorders. Indeed, a few lncRNAs have been ... driven by autoreactive T cells directed against autoantigens present in the skin and in the joints. However an autoinflammatory ... Network analysis identified lncRNAs targeting highly connected genes in the PsA transcriptome. Such genes are involved in ... Moreover, modulated genes belonging to meaningful pathways were validated by RT-PCR in PsA PBMCs and/or by ELISA in PsA sera. ...
... from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G , C (W236C) missense ... Runx genes are direct targets of Scl/Tal1 in the yolk sac and fetal liver. Blood 111 (2008) 3005-3014. ... Nose N, Werner RA, Ueda Y, Günther K, Lapa C, Javadi MS, Fukushima K, Edenhofer F, Higuchi T.(2018). Metabolic Substrate shift ... 2018).Mitochondrial Aging Defects Emerge in Directly Reprogrammed Human Neurons due to Their Metabolic Profile. Cell Rep. 2018 ...
Non-Infectious diseases are diseases. that are not caused by virus,or by a. living organism. They are in your genes and are. ... Some non infectious diseases can be prevented.. Examples:. -Lung cancer can be pevented by not smoking.. -Metabolic diseases ... and sends out faulty signals that cause overproduction of new skin cells. Graves Disease- an auto immune disease most commonly ... to help prevent skin cancer. Different non infectious diseases:. Allergies- an over reaction of the immune system to something ...
... by researchers from The University of Western Australia that can reliably predict the onset of diabetic kidney disease up to ... Parkinsons disease. 03/21/2019 Parkinsons disease Gene Therapy Shows Initial Promise for Parkinsons Disease ... Smell of skin could lead to early diagnosis for Parkinsons 03/13/2019 Parkinsons disease ... "Regular testing and early diagnosis of diabetic kidney disease with PromarkerD can help millions of people avoid costly and ...
... immunological skin diseases, photosensitivity); of the blood (e.g., hematology); of genes (e.g., genetic disorders); of drug ... nutritional diseases; and metabolic diseases.. Other medical conditions and/or fields with which embodiments of the invention ... skin disorders, blood disorders, and/or cancers. Tests for infectious disease and cancer biomarkers for diseases not yet ... B squeda Im genes Maps Play YouTube Noticias Gmail Drive M s » ... Light chains can include a kappa or lambda constant region gene ...
  • The associated pain, malodor, drainage, and disfigurement that accompany HS contribute to a profound psychosocial impact of the disease on many patients [ 3 ]. (
  • An early and accurate diagnosis facilitates the initiation of a treatment plan aimed at minimizing the risk of progression to disabling, end-stage disease. (
  • We describe the genome, secretory proteome, and expression of selected genes of Malassezia globosa . (
  • In addition, an abundance of genes encoding secreted hydrolases (e.g., lipases, phospholipases, aspartyl proteases, and acid sphingomyelinases) was found in the M. globosa genome. (
  • The M. globosa genome sequence also revealed the presence of mating-type genes, providing an indication that Malassezia may be capable of sex. (
  • This report highlights a conflict between phylogeny and host-specific adaptation, because genome- and proteome-based evidence indicates that the basidiomycete Malassezia species share similar sets of extracellular hydrolases with the phylogenetically distant Candida albicans that occupies an overlapping skin-related niche. (
  • This approach, combining precise genome editing in vitro with effective application of engineered cells in vivo, could provide "significant benefits for the treatment of many human diseases," the authors note. (
  • These studies have defined new strategies for disease gene discovery and point to the opportunity to determine the consequence of mutation of every gene in the human genome. (
  • In its study, the team led by researchers from the National Human Genome Research Institute (NHGRI) found that MMP-8 actually serves as a tumor suppressor gene in melanoma. (
  • Using RNA-seq data of both whole skin and skin cell subtypes, we construct gene expression modules to describe networks of coding genes, non-coding genes, and human genome repetitive elements. (
  • These microbes contain many more genes than are found in the human genome. (
  • Moreover, we can investigate the cross-talk between the genome and the epigenome, the modifications that alter gene expression but do not change the underlying DNA sequence. (
  • Microbes in a healthy human adult are estimated to outnumber human cells by a ratio of ten to one, and the total number of genes in the microbiome exceeds the number of genes in the human genome by a factor of at least 200. (
  • Human chromosome 2 is the second largest human chromosome, which consists of 237 million bases, encodes over 1,400 genes and makes up approximately 8% of the human genome. (
  • By sequencing the genome, Dr. Gordon and his colleagues found many genes devoted to processing carbohydrates that humans cannot digest. (
  • This HtrA1 inhibitor program aligns with our commitment to further build upon Ophthotech's strategy to develop novel therapeutics and gene therapy treatments for retinal diseases," Ophthotech CEO Glenn P. Sblendorio said in a statement. (
  • Developer of engineered proteases as protein therapeutics that attack targets which cause disease. (
  • Implanted designer cells that dynamically interface with the patient's metabolism by detecting specific disease metabolites or biomarkers, processing their blood levels with synthetic circuits in real time, and coordinating immediate production and systemic delivery of protein therapeutics may advance personalized gene- and cell-based therapies. (
  • The alpha Klotho protein has a global effect on organ health and function: mice lacking the klotho gene ( kl/kl ) show accelerated aging and numerous disease states, including osteoporosis, arteriosclerosis, skin atrophy, emphysema, pituitary gland abnormalities, Purkinje cell decrease and Parkinsonian gait, and atrophy of the genital organs and thymus (2). (
  • Infants with Wolman disease have serious digestive abnormalities including malabsorption, a condition in which the intestines fail to absorb nutrients and calories form food. (
  • As a skin pathogen, B. dendrobatidis interacts not only with the host's immune system, but also with other community members in the skin microbiome ( 3 ). (
  • Here metagenomic analyses of diverse body sites in healthy humans demonstrate that local biogeography and strong individuality define the skin microbiome. (
  • Microbiology: An integrated view of the skin microbiome. (
  • 2 Low diversity and its relationship to disease have become apparent with the examination of the microbiome of indigenous populations that have a high fiber intake compared to Western populations, 3 as well as comparisons of lean versus obese individuals. (
  • The goal of the Human Microbiome Project is to characterize the human microbiome and analyze its role in human health and disease. (
  • The Human Microbiome Project was launched by the National Institutes of Health in 2007 with the mission to generate the resources and expertise needed to characterize the human microbiome and analyze its role in health and disease. (
  • Using these methods, large studies with sufficient number of subjects have started to reveal the implications of our microbiome in health and disease. (
  • The recognition of the human microbiome (HM) as a substantial contributor to nutrition, health and disease is a relatively recent one, and currently, peer-reviewed studies linking alterations in microbiota to the etiopathology of human disease are few. (
  • PPARs regulate programs of gene expression by functioning as ligand-dependent transcription factors. (
  • We now have the complete DNA sequence of many genomes and are able to decipher the mechanisms that regulate gene expression, configure chromatin architecture, recruit transcription factors and activate or silence individual loci or gene networks. (
  • We are dependent on these bacteria to help digest our food, produce certain vitamins, regulate our immune system, and keep us healthy by protecting us against disease-causing bacteria. (
  • When transplanted onto diabetic mice with healthy immune systems, the skin grafts regulate blood glucose levels over 4 months and reverse insulin resistance as well as weight gain related to a high-fat diet. (
  • They fend off unfriendly bacteria and even regulate the development and metabolic processes of the host. (
  • GC/MS analysis further revealed accumulation in the PCC mutants of a small amount of 3-hydroxypropionate, which appeared to be metabolized in C. elegans to oxalate through a unique metabolic pathway. (
  • project: Tryptophan metabolism in podocytes and parietal epithelial cells: Does the kynurenine pathway play a role in metabolic focal segmental glomerulosclerosis? (
  • Summary: Two C. elegans model animals of propionic acidemia with single-gene pcca-1 or pccb-1 deletions have reduced lifespan with significantly reduced mitochondrial energy metabolism and increased oxidative stress, reflecting the disease's broader pathophysiology beyond a single enzyme deficiency with toxic precursor accumulation. (
  • Jackson researchers identify a gene implicated in oxidative stress and neurode. (
  • Researchers at The Jackson Laboratory announced that they have located a gene that protects certain brain and retinal neurons from oxidative stress, and prevents neurodegeneration. (
  • However, oxidative stress has been identified as a possible cause of several later-onset neurodegenerative diseases, and there are also indications that the diseased neurons of Alzheimer s patients have duplicated their DNA prior to dying. (
  • Moreover, the blueberries consumption protects the elderly from neurodegenerative diseases, which are associated with oxidative stress and aging, improves gait performance, vascular function and insulin sensitivity. (
  • When they transplanted gene-altered human cells to mice with a limited immune system, they saw the same effect. (
  • it is thought to result from the combined interaction between genes, the immune system, and endocrine system. (
  • Psoriasis occurs when the immune system mistakes a normal skin cell for a pathogen, and sends out faulty signals that cause overproduction of new skin cells. (
  • Critical factors known to modulate Candida colonization are host immune system responses and the competitive functions of the normal microbiota inhabiting the skin, mucosal, and intestinal surfaces. (
  • It is thought to happen when the immune system mistakenly starts producing skin cells too quickly. (
  • Affiliated tissues include kidney , lung and skin , and related phenotype is immune system . (
  • Autoimmune diseases like Crohn's Disease and multiple sclerosis, in which the immune system attacks its own body rather than predatory invaders, affect 5-20% of the global community. (
  • Graves' disease is the most common form of hyperthyroidism, occurring when your immune system mistakenly attacks your thyroid gland and causes it to overproduce the hormone thyroxine. (
  • Good bacteria" are very important for the body's immune system and for protection against disease-causing microorganisms, as well as for the absorption and digestion of food and nutrients. (
  • Probiotics have also been reported to lead to unhealthy metabolic activities, excessive immune system stimulation, and gene transfer. (
  • Oncogene-targeted and immune checkpoint therapies have revolutionized the clinical management of malignant melanoma and now offer hope to patients with advanced disease. (
  • Intimately connected to patients' overall clinical risk is whether the initial primary melanoma lesion will metastasize and cause advanced disease, but underlying mechanisms are not entirely understood. (
  • National Institutes of Health researchers have identified a gene that suppresses tumor growth in melanoma the deadliest form of skin cancer. (
  • Now, it turns out that one of the most often mutated MMP genes in melanoma is not an oncogene at all. (
  • Consequently, in the estimated 6 percent of melanoma patients whose tumors harbor a mutated MMP-8 gene or related tumor suppressor(s), it may not be wise to block all MMPs. (
  • Melanoma is the most serious form of skin cancer. (
  • To explore the role of MMP genes in melanoma, the NHGRI researchers studied a bank of tumor and blood samples collected from 79 patients with aggressive melanoma by collaborator Steven Rosenberg, M.D., Ph.D., chief of surgery at the National Cancer Institute (NCI). (
  • When the researchers fed normal or gene-altered mice a high-fat diet, both groups rapidly gained weight. (
  • A team of researchers has corrected a faulty gene in induced pluripotent stem (iPS) cells derived from skin cells of people with an inherited metabolic liver disease. (
  • The researchers then stimulated the gene-corrected iPS cells to differentiate into cells that exhibited some traits of hepatocytes, the liver cells most affected by A1ATD. (
  • A new test developed by researchers from The University of Western Australia that can reliably predict the onset of diabetic kidney disease up to four years in advance has been given the green light for use. (
  • In the first combination, the researchers took a piece of skin off of the muzzle of a WT mouse and grafted it onto the back of a KO mouse. (
  • Two months after the surgeries were completed, the researchers examined the skin grafts to see if mineralization was prevented. (
  • UCLA/VA Researchers discover fat gene James, William D. (
  • Clinicians and researchers are well acquainted with melanin in skin and ocular pathologies and now increasingly are with internal, melanized, pathology-associated sites not obviously subject to light radiation (e.g. brain, cochlea). (
  • In a proof-of-concept study, researchers at the University of Chicago have used CRISPR gene editing to engineer stem cell-grown mouse skin grafts to secrete a blood glucose-regulating hormone. (
  • In contrast, the phylogenetically closely related plant pathogen Ustilago maydis encodes a different arsenal of extracellular hydrolases with more copies of glycosyl hydrolase genes. (
  • The XPA gene encodes a 31 kDa zinc metalloprotein that preferentially binds to DNA damaged by UV radiation and chemical carcinogens and is required for the incision step during nucleotide excision repair. (
  • Monarch's tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. (
  • 12 An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. (
  • The failure of amino-acid transport was reported in 1960 from the increased presence of indoles (bacterial metabolites of tryptophan) and tryptophan in the urine of patients as part of a generalized aminoaciduria of the disease. (
  • The National Clinical Programme for Rare Diseases was established on the 2nd December 2013, as a joint iniatitive between the Clinical Strategy and Programmes Division within HSE and the Royal College of Physicians of Ireland. (
  • These include lack of recognition and visibility in health care systems leading to difficulties in coordination and communication, the lack of national policies with limited and fragmented resources for individuals with rare diseases, with often the lack of specific clinical expertise for the condition in the specific country, and very highly fragmented clinical research leading to inefficient use of limited resources. (
  • Clinical expertise for rare diseases should be provided through a network of national Centres of Excellence/Health Care Providers or at designated centres abroad. (
  • This indispensable reference guide enables practicing and prospective dermatologists to easily look up information on a wide range of dermatological diseases and quickly access the algorithms, protocols, guidelines, and staging and scoring systems that are vital to both clinical practice and exam success. (
  • 2006). Andrews' Diseases of the Skin: clinical Dermatology. (
  • Ophthalmic incubator creating unique solutions that address unmet clinical needs in diseases of the eye. (
  • While clinical trials are in progress on possible treatments for some of these diseases, there is currently no approved treatment for many lysosomal storage diseases. (
  • Hartnup disease manifests during infancy with variable clinical presentation: failure to thrive, photosensitivity, intermittent ataxia, nystagmus, and tremor. (
  • The clinical spectrum of Pompe disease varies broadly, with significant differences existing in age of onset, rate of disease progression, and overall clinical phenotype. (
  • Baumann, N. : Clinical aspects of Niemann-Pick type C disease in the adult. (
  • According to our study and the clinical and experimental data reviewed, the involvement of adipokines in the pathogenesis of these autoimmune diseases is clear," said Prof. Shoenfeld. (
  • Artificial skin has been used to treat burn patients since the 1970s, but as the system has matured, now to the point where 3D skin organoids can be grown in vitro, research groups are exploring other clinical uses for the technology. (
  • For example, data from epidemiological, preclinical and clinical studies have shown that vitamin D and/or 25(OH)D deficiency is associated with increased risk for cardiovascular disease (CVD). (
  • West African trypanosomiasis, which circulates in the human environment, is characterised by a more benign, slowly progressing and chronic clinical course of the disease. (
  • The aim of a clinical classification of pulmonary hypertension (PH) is to group together different manifestations of disease sharing similarities in pathophysiologic mechanisms, clinical presentation, and therapeutic approaches. (
  • There are an estimated 6-8,000 known rare diseases affecting up to 6% of the total EU population, (at least 30 million Europeans), and perhaps up to 300,000 Irish people during their lives. (
  • In Europe, it is recognised that accurate and timely diagnosis and access to treatment for individuals with rare diseases are severely hampered by a few major issues. (
  • The primary concerns expressed by patients, families and the medical professionals are the prolonged and difficult diagnostic journey and the lack of information and lack of awareness of rare diseases in the community. (
  • Patients with rare diseases and their families should have access to quality information and support, to enable accurate and timely diagnosis and access to appropriate specialist care. (
  • a centre of excellence for the diagnosis and treatment of rare diseases. (
  • This finding suggests that site-specific pathogen pressures help shape skin microbial communities. (
  • The varied topography of human skin offers a unique opportunity to study how the body's microenvironments influence the functional and taxonomic composition of microbial communities. (
  • This work is foundational for human disease studies investigating inter-kingdom interactions, metabolic changes and strain tracking, and defines the dual influence of biogeography and individuality on microbial composition and function. (
  • 6 Children living in environments in which they are exposed to dirt and animals, which are rich in microbial diversity, are known to have fewer allergies, autoimmune diseases and incidents of asthma. (
  • This baseline includes reference genomes of thousands of host-associated microbial isolates, 3.5 terabases of metagenomic sequences, assemblies, and metabolic reconstructions, and a catalogue of over 5 million microbial genes. (
  • These diverse microbial communities reside on all external surfaces of primate bodies as well as most internal tracts and passages that connect to the exterior, such as the skin, mouth, nose, gastrointestinal tract, and vagina (Table 2 ), as well as regions once thought to be sterile [e.g., brain, amniotic sac (DiGiulio et al. (
  • A University of Chicago-based research team has overcome challenges that have limited gene therapy and demonstrated how their novel approach with skin transplantation could enable a wide range of gene-based therapies to treat many human diseases. (
  • The common human diseases that account for the vast majority of morbidity and mortality in human populations are known to have underlying inherited components. (
  • These dynamic processes are critical for normal development and differentiated function of distinct cell types in an organism and their failure results in a wide spectrum of human diseases. (
  • There was no significant rejection of the transplanted skin grafts. (
  • Graves Disease- an auto immune disease most commonly affects the thyroid, causing it to become twice its size or more, becoming over active, with related hyperthyroid symptoms such as increased heartbeat, bulging eyes, muscle weakness, etc. (
  • Psychiatric and neurological symptoms are accompanied by adrenal gland dysfunction (fatigue, intermittend vomiting, arterial hypotension, hyperpigmentation of the skin) and hypogonadism. (
  • Recently bone marrow transplantation has been reported to improve neurological and neuropsychological symptoms if applied at the early stage of the disease. (
  • Most will not develop any symptoms, but they can pass the gene to their offspring. (
  • The signs and symptoms of classic infantile CLN1 disease usually become apparent between 2 and 24 months of age. (
  • The symptoms of Wolman disease usually become apparent shortly after birth, usually during the first few weeks of life. (
  • Additional symptoms may also occur in Wolman disease including yellowing of the skin, mucous membranes and whites of the eyes (jaundice), a persistent low-grade fever, and poor muscle tone (hypotonia). (
  • The symptoms of Wolman disease often get progressively worse eventually leading to life-threatening complications during infancy including extremely low levels of circulating red blood cells (severe anemia), liver (hepatic) dysfunction or failure, and physical wasting away and severe weakness often associated with chronic disease and marked by weight loss and loss of muscle mass (cachexia or inanition). (
  • The purpose of this study is to assess whether patients with the classic form of Fabry disease have significantly less androgenic alopecia (male pattern baldness). (
  • Male patients with Fabry disease age 20-64 years old. (
  • Up to 30% of patients with skin psoriasis may develop PsA and its prevalence is estimated in 1% in the general population. (
  • Our alpha Klotho Assay kit was compared with other commercially available kits for the measurement of alpha-Klotho in serum and plasma of patients with chronic kidney disease. (
  • Spritz, R. A., K. Fukai, S. A. Holmes, and J. Luande (1995) Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutanious albinism (OCA2). (
  • There is currently no treatment for fatty liver disease and NASH, and drugs tested in patients thus far have failed to work. (
  • In patients with niacin deficiency and symptomatic disease, daily supplementation with nicotinic acid or nicotinamide reduces both the number and severity of attacks. (
  • A total of 6 paired nonlesional and lesional (all were plaque-type) skin biopsies from 3 psoriatic patients were profiled using 2D electrophoresis. (
  • P G Pentchev, M E Comly, H S Kruth, M T Vanier, D A Wenger, S Patel, R O Brady: A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. (
  • Hypothyroidism in patients with rheumatoid arthritis (RA) and its relation to disease activity. (
  • This paper is exciting for us because it is the first time we show engineered skin grafts can survive long term in wild-type mice, and we expect that in the near future this approach can be used as a safe option for the treatment of human patients," says senior author Xiaoyang Wu, a stem cell biologist at the University of Chicago Ben May Department for Cancer Research. (
  • In CKD, where decreasing VDR activation persists over the course of the disease and a majority of the patients die of CVD, VDRA therapy was found to provide a survival benefit in both pre-dialysis and dialysis CKD patients. (
  • In demonstrating that the converter cells were responsive to blood from psoriasis patients, the authors suggest that synthetic biology may be ready to autonomously flip therapeutic switches in people and later take on other diseases with defined disease indicators. (
  • Despite the importance of Malassezia in common skin diseases, remarkably little is known at the molecular level. (
  • We discuss in-depth key molecular and cellular mechanisms by which p63 controls gene regulation to define epidermal identity, and speculate that the affected cell fate contributes to various disease states. (
  • Oetting, W. S. (2000) The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): a model for understanding the molecular biology of melanin formation. (
  • In order to gain insight into molecular machinery underlying the disease, we conducted a comprehensive meta-analysis of proteomics and transcriptomics of psoriatic lesions from independent studies. (
  • Adaptation to the skin environment and associated pathogenicity may be due to unique metabolic limitations and capabilities. (
  • These results, the authors wrote, suggest that "cutaneous gene therapy for GLP1 secretion could be practical and clinically relevant. (
  • Psoriasis is a common cutaneous and systemic inflammatory disease that represents a fascinating intersection between genetics, immunology, microbiology, and metabolism. (
  • Calcitriol binds to a nuclear receptor, the vitamin D receptor (VDR), and activates VDR to recruit cofactors to form a transcriptional complex that binds to vitamin D response elements in the promoter region of target genes. (
  • From toad skin swabs, we detected higher proportions of bacteria with antifungal properties in Queensland, where toad and pathogen distributions overlap, than in other sites. (
  • Many bacteria on frog skin have antifungal properties that can help the host fight B. dendrobatidis ( 4 ), and the presence of bacteria with anti- B. dendrobatidis capacity may increase a host's pathogen resistance. (
  • With the assumption that skin bacteria are relatively inexpensive for the host to maintain, we used skin swab samples collected in 2017 to test whether cane toads have increased proportions of putative B. dendrobatidis -inhibiting bacteria at the invasion front in Australia, consistent with a previously reported increased investment into low-cost innate immune functions ( 6 ). (
  • Alternatively, we predicted that patterns of B. dendrobatidis -inhibitory bacteria on toad skin might depend on the current distribution of, and thus likely exposure to, B. dendrobatidis . (
  • Proportions of sequences (A) and richness (B) represented by Batrachochytrium dendrobatidis -inhibitory bacteria detected on the skin of invasive cane toads ( Rhinella marina ) at 4 sites in Australia, 2017. (
  • Phylogenetic marker gene-based studies have identified many bacteria and fungi that colonize distinct skin niches. (
  • Chronic diseases have increased dramatically and are thought to be related to dysbiosis, which is a perturbation in bacteria populations, resulting in a loss in the ancient symbiotic relationship. (
  • These bacteria reside on the skin and in the nose, but the most abundant and various species reside in the gastrointestinal (GI) tract. (
  • Fortunately, evidence demonstrates that supplementing with the right mix of probiotic bacteria such as Lactobacillus and Bifidobacterium species can powerfully ward off many of the factors leading to chronic disease. (
  • For example, two of the most studied and proven groups of bacteria- Lactobacillus and Bifidobacterium -have been found to protect against diseases not normally associated with intestinal origins. (
  • 19 Over time, an imbalance in the ratio of good-to-bad bacteria activates many of these detectors in negative ways that can trigger the development of a host of diseases in many body areas-not just those associated with the gut. (
  • Our world is full of bacteria (and other microorganisms), and they are in people bodies as well - in the gut, in and on the skin, and in other places. (