AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesInformation ScienceNamed Groups
ExophthalmosBone and BonesBone RemodelingOrbital NeoplasmsBone DensityOrbitMyxedemaOrbital DiseasesBone ResorptionLeg DermatosesHarderian GlandGraves OphthalmopathyBone DevelopmentOsteosclerosisGraves DiseaseOrbital FracturesBone DiseasesBone MarrowPolyarteritis NodosaBone Marrow CellsLacrimal ApparatusOrbital PseudotumorBone NeoplasmsBone RegenerationPlasmapheresisOsteogenesisBone Diseases, MetabolicCarotid-Cavernous Sinus FistulaOsteoporosisFemurOsteoblastsFractures, BoneOsteocalcinTibiaBone MatrixFish DiseasesMedlinePlusIntellectual DisabilitySyndromeFaciesMentally Disabled PersonsAbnormalities, MultipleCraniofacial Abnormalities
MarrowHypertelorismGoiterHyperthyroidismDiabetesGranulomasSymptomsProptosisBrittle bonesTissuesLesions of boneThyroid glandBiopsyOrgansOrbitalOptic nerveInvolvementOccursFacialFracturePatientsFindingsPosteriorMalignantTissueDysostosisAdultsTransplantationCranialEyesSevereCraniosynostosisLongVariantFrequencyChild'sRetinoblastomaDisorderDiseaseSkeletonTeethDisordersDepressionOssificationNasalMucousAbnormallyOrganDenseIndividualsMutation
Marrow8
  • The disease involves an infiltration of lipid-laden macrophages, multinucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis of the long bones. (wikipedia.org)
  • Langerhans cell histiocytosis (LCH) is a group of idiopathic disorders characterized by the presence of cells with characteristics similar to bone marrow-derived Langerhans cells juxtaposed against a backdrop of hematopoietic cells, including T-cells, macrophages, and eosinophils. (medscape.com)
  • Some affected individuals with the malignant infantile type of osteopetrosis may also experience consequences of reduced bone marrow space: marked deficiency of all types of blood cells (pancytopenia), the formation and development of blood cells outside the bone marrow, as in the spleen and liver (extramedullary hematopoiesis), and the occurrence of myeloid tissue in extramedullary sites (myeloid metaplasia). (orthopedicshealth.com)
  • Affected individuals may also experience low levels of iron in red blood cells (anemia), due to both reduced bone marrow space and increased destruction of red blood cells due to an enlarged spleen. (orthopedicshealth.com)
  • The main organs of the immune system are the bone marrow, thymus, spleen, tonsils, lymph nodes, and lymphoid tissue of the mucous membranes. (medic-journal.com)
  • Treatment of diseases of the immune system occurring with immunological insufficiency involves substitution therapy (administration of immunoglobulins, serums, bone marrow transplantation), immunocorrection, immunomodulation. (medic-journal.com)
  • On the second hospital day, a transoral maxillary sinus biopsy was performed and bilateral bone marrow aspirates were obtained. (contemporarypediatrics.com)
  • Additional tests that could be considered selectively include computed tomography of the chest and/or abdomen, bone marrow biopsy, polysomnography, and/or additional laboratory studies if indicated. (aafp.org)
Hypertelorism2
  • Symptoms that affect the eyes may include wasting away (atrophy) of the retina, eyes that appear widely spaced (hypertelorism), eyes that protrude from their orbits (exophthalmos), cross-eyes (strabismus), involuntary rhythmic movements of the eyes (nystagmus), and blindness. (orthopedicshealth.com)
  • Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. (nih.gov)
Goiter1
  • Graves' disease is characterized by hyperthyroidism and one or more of the following: goiter, exophthalmos (protrusion of the eyeballs), and pretibial myxoedema (swelling on the shin above the lateral bone of the ankle). (healthengine.com.au)
Hyperthyroidism3
  • Graves' Disease is the most common cause of hyperthyroidism, affecting 2-5% of females at some time, with a female:male ratio of 7:1. (healthengine.com.au)
  • Autoimmune hyperthyroid disorder that classically comprises hyperthyroidism with a diffuse goitre, eye disease characterized by inflammation and involvement of intra-orbital structures, dermopathy to as pretibial myxoedema, and rare involvement of the nails, fingers and long bones known as acropachy. (capsulehealth.one)
  • Condition is called Hyperthyroidism- Graves' Disease - more common in females, it is an auto-immune disorder, person has 2 to 3 times enlarged thyroid gland, develops edema behind eyes (exophthalmos)i.e. protruding eyes. (biotrick.com)
Diabetes4
  • This variant has 4 characteristic findings: exophthalmos, diabetes insipidus, bone lesions, and mucocutaneous lesions. (medscape.com)
  • in 1996 reported the following symptoms in order of frequency of occurrence: Bone pain Retroperitoneal fibrosis Diabetes insipidus Exophthalmos Xanthomas Neurological and central nervous system involvement Dyspnea caused by interlobular septal and pleural thickening Kidney failure Hypopituitarism Liver failure Radiologic osteosclerosis and histology are the main diagnostic features. (wikipedia.org)
  • The intermediate clinical form called Hand-Schüller-Christian disease is characterized by multifocal, chronic involvement and classically presents as the triad of diabetes insipidus, proptosis, and lytic bone lesions. (medscape.com)
  • In the later stages of the disease, a classic triad appears, in which exophthalmos, granulomas in the bones of the skull and diabetes insipidus develop. (antibiotic-store.com)
Granulomas1
  • On one end, the clinical spectrum includes an acute, fulminant, disseminated disease called Letterer-Siwe disease, and, on the other end, solitary or few, indolent and chronic lesions of bone or other organs called eosinophilic granulomas. (medscape.com)
Symptoms6
  • Bone pain is the most frequent of all symptoms associated with ECD and mainly affects the lower limbs, knees and ankles. (wikipedia.org)
  • Symptoms depend on which organs are affected. (msdmanuals.com)
  • Although symptoms may not initially be apparent in people with mild forms of this disorder, trivial injuries may cause bone fractures due to abnormalities of the bone. (orthopedicshealth.com)
  • There is predominance of bone symptoms, including osteosclerosis, fractures after minimal trauma (usually of the ribs and long bones), osteomyelitis (especially of the jaw) and cranial hyperostosis. (orthopedicshealth.com)
  • Your doctor can sometimes diagnose Pfeiffer syndrome while your child is still in the womb by using ultrasound images to see early fusion of the skull bones and symptoms of your child's fingers and toes. (healthline.com)
  • If the TD symptoms affect your ability to eat, it could be a good idea to try and hone in or focus on the specific types of foods you're more able to swallow, rather than the ones that you struggle with. (simplyhealth.io)
Proptosis1
  • An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia). (nih.gov)
Brittle bones2
  • Osteopetrosis may be inherited as either a dominant or recessive trait and is marked by increased bone density, brittle bones, and, in some cases, skeletal abnormalities. (orthopedicshealth.com)
  • If you do have Graves' disease and it's left untreated, the Mayo Clinic says it could lead to even more problems like issues with pregnancy, various heart conditions, brittle bones, and something called thyroid storm. (greenmatters.com)
Tissues4
  • They all share histologically a significant infiltration of affected tissues by langerhans cells. (scirp.org)
  • Immunoglobulin G4-related disease (IgG4-RD) is an uncommon immune disorder that usually affects multiple tissues and organs with tumor-like masses and/or painless enlargement. (msdmanuals.com)
  • Investigations include smears, biopsy, staining with periodic acid-Schiff (PAS) or Gomori methenamine silver, culture of the affected tissues, polymerase chain reaction (PCR), serodiagnosis (sometimes), physical examination, and chest radiography. (medscape.com)
  • During adulthood it causes Acromegaly- body tissues get thickened on face, hands feet bones, jawline get thickened, development of furrows on forehead and soles. (biotrick.com)
Lesions of bone1
  • Granulomatous lesions of bone tissue, internal organs, and lymph nodes appear. (antibiotic-store.com)
Thyroid gland1
  • The hormones created by the thyroid gland have an effect on almost every organ and tissue within the body. (ayushakti.com)
Biopsy2
Organs3
  • The affected organs can enlarge and may eventually fill with scar tissue (fibrosis) and the damage can be permanent. (msdmanuals.com)
  • One or more organs are affected. (msdmanuals.com)
  • The disease affects the internal organs, as well as the bones of the skeleton. (antibiotic-store.com)
Orbital4
  • Secondary enophthalmos is due to an acquired change in volumetric relationship between the rigid bone cavity, the orbit, and its contents (predominantly the orbital fat, the extraocular muscles, and the eye). (healthjade.com)
  • The arrow points to the downward displacement of the orbital floor bone into the blood-filled maxillary sinus. (healthjade.com)
  • Outward fracture of orbital bones: In order of frequency, fracture sites are as follows: floor, medial wall, lateral wall, and roof. (healthjade.com)
  • Occasionally it may lead to exophthalmos and orbital cellulitis. (medicalwholesome.com)
Optic nerve1
Involvement3
  • Long bone involvement is almost universal in ECD patients and is bilateral and symmetrical in nature. (wikipedia.org)
  • Clinical presentation is variable, ranging from a single location in the bone to severe multivisceral involvement. (scirp.org)
  • therefore, a diagnosis of a deep-seated fungal oral infection should prompt the clinician to investigate systemic involvement as well as to determine the integrity of the immune system of the affected individual. (medscape.com)
Occurs1
  • Exophthalmos occurs in some patients and is usually bilateral, symmetric and painless, and in most cases it occurs several years before the final diagnosis. (wikipedia.org)
Facial1
Fracture2
  • Risk of a fat embolism is greatest in the first 48 hours after the fracture of a long bone. (rnpedia.com)
  • High level of hormone leads to excessive resorption of Ca 2+ from bones leading to high blood calcium level, bones become soft, prone to fracture, cause of kidney stones, person become lethargic. (biotrick.com)
Patients1
  • The disease proceeds benignly in patients of different sizes, foci of tissue destruction in the bones develop. (antibiotic-store.com)
Findings1
  • While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. (nih.gov)
Posterior1
  • MRI of the spine showed a spinal cord compression due to bone and epidural tumoral lesions of the posterior wall of the D1 to D5 thoracic vertebras ( Figure 1 ). (scirp.org)
Malignant1
  • The most common are bone and soft tissue sarcomas, leukemias, lymphomas and malignant melanomas. (medicalwholesome.com)
Tissue3
  • In some cases, affected individuals may have pus-filled sacs in the tissue around the teeth (dental abscess). (orthopedicshealth.com)
  • Computed tomography is significantly more sensitive at detecting bone lysis and adjacent tissue invasion compared to radiographs, both of which are important factors for surgical planning (Ghirelli et al . (veterinary-practice.com)
  • In the remaining 40%, most of the tumors are sarcomas which form in bone, connective tissue, and/or cartilage. (petmoo.com)
Dysostosis2
  • The abnormal overexpression or accumulation of proteoglycan, i.e., decorin and biglycan, was found and presumed to be caused by the low affinity of receptor regulation in FGFR2 signaling cascade, which resulted in premature periosteal ossification inducing membranous bone dysostosis [ 7 ]. (springeropen.com)
  • Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. (nih.gov)
Adults2
  • Hand-Schüller-Christian disease is a chronic, progressive, multifocal variant that usually affects adults. (medscape.com)
  • ECD affects predominantly adults, with a mean age of 53 years. (wikipedia.org)
Transplantation1
  • The therapeutic decision was an autologeous bone transplantation with a ventral plate osteosynthesis and a decompressive irradiation to the dorsal spine (10 × 3 GY) followed by glucocorticoid and vinblastine based chemotherapy: 10 mg/weeks for 6 weeks. (scirp.org)
Cranial1
  • Taken together, the Apert syndrome patient, 9 years old, showed retarded growth of the anterior cranial base affecting severe midface hypoplasia, which resulted in a hypoplastic nasal septum axis, retruded zygomatic axes, and retarded growth of the maxilla and palate even after frontal calvaria distraction osteotomy 8 years ago. (springeropen.com)
Eyes1
  • In almost 60% of cases, retinoblastoma develops in one eyeball, in 30% it affects both eyes, but usually it does not attack them simultaneously. (medicalwholesome.com)
Severe2
  • Some affected individuals may experience delayed tooth development or severe dental caries. (orthopedicshealth.com)
  • Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. (nih.gov)
Craniosynostosis1
  • Rarely, people with MCTT syndrome have premature fusion of certain skull bones (craniosynostosis). (medlineplus.gov)
Long3
  • another possible prednisone side-effect is bone loss and osteoporosis, also a significant argument against its long-term use. (lafulana.org.ar)
  • A long-term shortage of calcium can lead to osteoporosis (brittle-bone disease). (findmeacure.com)
  • During childhood causes Gigantism - abnormal increase in length of long bones, person becomes very tall, body ratio remains normal. (biotrick.com)
Variant1
  • In rare instances, a parent with low-level mosaicism transmits the causative pathogenic variant to an affected offspring. (nih.gov)
Frequency1
  • Medications or conditions that affect the sympathetic nervous system, thermoregulatory center, or sweat glands may affect the frequency of sweating. (aafp.org)
Child's4
  • Pfeiffer syndrome happens when the bones in your child's skull, hands, and feet have fused together too soon in the womb because of a gene mutation. (healthline.com)
  • Pfeiffer syndrome happens because the bones that form your child's skull, hands, or feet fuse together too early while they're in the womb. (healthline.com)
  • Type 1 Pfeiffer syndrome is caused by a mutation in one or more genes that are part of a child's bone development. (healthline.com)
  • First, the gaps between the different bones in your child's skull, known as the synostotic sutures, are separated. (healthline.com)
Retinoblastoma1
Disorder2
  • Eosinophilic granuloma is a more chronic, localized disorder that most often involves bone. (medscape.com)
  • Most people with IgG4-RD are middle-aged to older men, but the disorder can affect people of any age and sex. (msdmanuals.com)
Disease2
  • Adult localized forms are dominated by bone and lung disease. (scirp.org)
  • Unfortunately, Graves' disease can cause other health issues because of how it affects the whole body. (greenmatters.com)
Skeleton1
  • X-rays of the rest of the skeleton, Bone scan and abdominal ultrasound were normal. (scirp.org)
Teeth2
  • Affected individuals may experience Frequent infections of teeth and the bone in the jaw. (orthopedicshealth.com)
  • Calcium is a mineral that's vital for the development of healthy bones and teeth - 99 per cent of the calcium in our bodies is found here. (findmeacure.com)
Disorders1
  • The onset of TED can occur before, concurrently, or as an effect of thyroid dysfunction disorders 1 . (eyewiki.org)
Depression1
  • There is a general mnemonic for remembering the effects of hypercalcaemia: "groans (constipation), moans (psychic moans (e.g., fatigue, lethargy, depression)), bones (bone pain, especially if PTH is elevated), stones (kidney stones), and psychiatric overtones (including depression and confusion). (findmeacure.com)
Ossification1
  • and supernumerary carpal and tarsal bone ossification centers. (nih.gov)
Nasal1
  • In cats, the less common form is called sino-nasal aspergillosis (SNA), meaning that the fungus destroys the delicate bones of the sinuses. (ohiodriveanimalhospital.com)
Mucous1
  • Oral mucous membranes can also be affected, as gingival hyperplasia and stomatitis develop. (antibiotic-store.com)
Abnormally1
Organ3
  • LCH can affect any organ or system. (scirp.org)
  • Different therapeutic approaches can be considered depending on the affected organ, including surgery, radiotherapy and chemotherapy. (scirp.org)
  • MRLs are derived when reliable and sufficient data exist to identify the target organ(s) of effect or the most sensitive health effect(s) for a specific duration within a given route of exposure. (cdc.gov)
Dense1
Individuals4
  • Many affected individuals are nonverbal, but some have speech limited to one or two words or communicate using sign language. (medlineplus.gov)
  • At least 25 affected individuals have been described in the scientific literature. (medlineplus.gov)
  • Some affected individuals experience delays in acquiring skills that require the coordination of muscles and voluntary movements (delayed psychomotor development). (orthopedicshealth.com)
  • Affected individuals may also experience rhinitis, hepatosplenomegaly, anemia and extramedullary hematopoiesis. (orthopedicshealth.com)
Mutation1
  • However, and water is possible effect of this condition is a mutation of weight excess and anticancer defense. (eostone.com)