AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and Processes
Hyperkeratosis, EpidermolyticKeratoderma, Palmoplantar, EpidermolyticKeratin-10Keratoderma, PalmoplantarExfoliatinsKeratin-1AcanthomaKeratin-9KeratosisKeratinsSkinIchthyosisDermotoxinsEpidermisStevens-Johnson SyndromeFoot DermatosesToxins, BiologicalScrotumPapillon-Lefevre DiseasePedigreeKeratin-2Skin DiseasesIchthyosis, LamellarSusac SyndromeAcanthosis NigricansBowen's DiseaseCallositiesAcitretinSkin Diseases, GeneticPapillomaDermatitisHand DermatosesAngiokeratomaPoint Mutation
IchthyosisFollicularCongenitalPalms and solesErythrodermaRecessiveMutations in the genesDyskeratosisHereditaryKeratin 10KRT101998CompensatoryGeneFocalGeneticSkinFormDiagnosisDaysConditionRecessive epidermolytic hyperkeratosisEither epidermolytic or nonepidermolyticEpidermalSole hyperkeratosisFollicular hyperkeratosisPalmsAcanthomaNonepidermolyticSevereSyndromeScalyDiffuseEpidermolysisParakeratosisPalmoplantar keratosisHistologicPapillomatosisThick skinDisorderHyperproliferationInvolvementKeratoderma
Ichthyosis19
  • Epidermolytic ichthyosis (EI), is a rare and severe form of ichthyosis that affects around 1 in 300,000 people. (wikipedia.org)
  • UPDATE: OCTOBER 2014 As of late, Paller reports "we are using a new nanotechnology-based technique called 'spherical nucleic acids' (SNAs) to suppress the production of the abnormal keratin 10 gene that is the most common change leading to epidermolytic ichthyosis. (wikipedia.org)
  • Epidermolytic ichthyosis presents at birth with erythroderma, blisters, and erosions and evolves over time into varying degrees of hyperkeratosis. (medscape.com)
  • Epidermolytic ichthyosis results from heterozygous mutations in the genes encoding keratin 1 ( KRT1 ) and keratin 10 ( KRT10 ). (medscape.com)
  • Defects in genes for keratin 1 ( KRT1 ) and 10 ( KRT10 ) are the cause of epidermolytic ichthyosis. (medscape.com)
  • Patients with generalized epidermolytic ichthyosis may be born to parents with epidermolytic epidermal nevi (mosaic epidermolytic ichthyosis). (medscape.com)
  • If the mutation also involves gonadal cells, which is thought to be more likely in patients with more extensive cutaneous involvement, affected individuals can have offspring with generalized epidermolytic ichthyosis. (medscape.com)
  • No racial predilection is apparent for epidermolytic ichthyosis. (medscape.com)
  • No sex predilection is recognized for epidermolytic ichthyosis. (medscape.com)
  • Epidermolytic ichthyosis is a lifelong condition with an onset at birth or in the neonatal period. (medscape.com)
  • Epidermolytic ichthyosis is a lifelong condition. (medscape.com)
  • Educate patients with epidermolytic ichthyosis about the potential of passing the genetic defect on to offspring. (medscape.com)
  • Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a KRT1 variant. (medscape.com)
  • Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L. Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. (medscape.com)
  • The common forms of ichthyosis are Ichthyosis vulgaris, X-linked ichthyosis, congenital ichthyosiform erythroderma, Epidermolytic hyperkeratosis, and many others. (virashomeopathy.com)
  • Some occur in isolation and are not part of a syndrome (eg, ichthyosis vulgaris, X-linked ichthyosis, lamellar ichthyosis, congenital ichthyosiform erythroderma [epidermolytic hyperkeratosis], harlequin ichthyosis). (msdmanuals.com)
  • Ichthyosis vulgaris is associated with keratosis pilaris ( follicular hyperkeratosis) and hyperlinearity (pronounced skin lines) of palms and soles. (dermnetnz.org)
  • Heterozygous KRT10 missense variant in a Chihuahua with severe epidermolytic ichthyosis. (unibe.ch)
  • SDR9C7 missense variant in a Chihuahua with non-epidermolytic ichthyosis. (unibe.ch)
Follicular1
  • This disease shows hypertrophic dystrophy in toenails and fingernails, plantar keratoderma, oral leukokeratosis, cysts, and follicular hyperkeratosis in the hair follicles. (ijpsr.com)
Congenital2
  • Epidermolytic hyperkeratosis and congenital platelike osteoma cutis in a child. (medscape.com)
  • Conditions characterized by palmoplantar keratosis (PPK) are the most causes of congenital hyperkeratosis. (faoj.org)
Palms and soles2
  • Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al. (nih.gov)
  • Tylosis is associated with hyperkeratosis of the palms and soles (see the images below) and a high rate of esophageal SCC (40% to 90% by the age of 70 years). (denguedenguedengue.com)
Erythroderma1
  • Akhyani M, Kiavash K, Kamyab K. Bullous ichthyosiform erythroderma in a child born to a parent with systematized linear epidermolytic hyperkeratosis. (medscape.com)
Recessive2
  • A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. (medscape.com)
  • Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. (medscape.com)
Mutations in the genes1
Dyskeratosis2
  • Bergman R, Khamaysi Z, Sprecher E. A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. (medscape.com)
  • Pathological keratinization includes hyperkeratosis, parakeratosis and dyskeratosis 4 . (ijpsr.com)
Hereditary3
  • There is also a subclass of hereditary diseases defined as either epidermolytic or nonepidermolytic. (faoj.org)
  • In fact, pseudoainhum is characteristic in a number of hereditary hyperkeratosis. (faoj.org)
  • Secondary symptoms are commonly associated with hereditary hyperkeratosis. (faoj.org)
Keratin 101
  • [ 10 , 11 ] Epidermal nevi with histologic changes of epidermolytic hyperkeratosis are caused by postzygotic mutations in keratin 1 or keratin 10. (medscape.com)
KRT101
  • Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation. (medscape.com)
19981
  • In 1998 they developed an inducible mouse model for epidermolysis hyperkeratosis which is viable, because the expression of a mutant K10 allele can be restricted to a focal area of the skin. (wikipedia.org)
Compensatory1
  • Compensatory hyperproliferation leads to hyperkeratosis. (medscape.com)
Gene3
  • Palmoplantar keratoderma, epidermolytic (sequence analysis of KRT9 gene). (mendelian.co)
  • Palmoplantar Keratoderma, Epidermolytic via KRT9 Gene Sequencing with CNV Detection. (mendelian.co)
  • Mutations in this gene are associated with epidermolytic hyperkeratosis. (icbinhibitor.com)
Focal1
  • Tylosis with oesophageal cancer is characterised by thickening of the skin of the hands and feet (focal, non-epidermolytic form of palmoplantar keratoderma) associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus (OSCC). (denguedenguedengue.com)
Genetic1
  • 1994). For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (144200). (nih.gov)
Skin2
  • A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis. (medscape.com)
  • Epidermal nevi(EN)represent a heterogeneous group of mosaic skin lesions frequently following the lines of Blaschko. (karger.com)
Form1
  • Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis. (medscape.com)
Diagnosis1
  • Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis. (medscape.com)
Days1
Condition1
  • C ongenital hyperkeratosis is an uncommon condition of the foot. (faoj.org)
Recessive epidermolytic hyperkeratosis3
  • A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. (medscape.com)
  • Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. (medscape.com)
  • 5. Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs. (nih.gov)
Either epidermolytic or nonepidermolytic2
  • There is also a subclass of hereditary diseases defined as either epidermolytic or nonepidermolytic. (faoj.org)
  • Histologically, either epidermolytic or nonepidermolytic changes may be seen. (rareguru.com)
Epidermal3
  • [ 10 , 11 ] Epidermal nevi with histologic changes of epidermolytic hyperkeratosis are caused by postzygotic mutations in keratin 1 or keratin 10. (medscape.com)
  • 19. Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis. (nih.gov)
  • These diseases are characterized by keratinocytes fragility (cytolysis), intra-epidermal blistering, hyperkeratosis, and keratin filament aggregation in severely affected tissues. (nih.gov)
Sole hyperkeratosis2
  • 562 It is possible to classify epidermolytic hyperkeratosis based upon palm and sole hyperkeratosis. (wikipedia.org)
  • People with PS-type epidermolytic hyperkeratosis have thick skin on the palms of their hands and soles of their feet (palmoplantar or palm/sole hyperkeratosis) in addition to other areas of the body. (medlineplus.gov)
Follicular hyperkeratosis1
  • 13 Additional symptoms of PC include oral leukokeratosis (mouth plaques/erosions), cysts, follicular hyperkeratosis, palmoplantar hyperhidrosis, and occasionally natal teeth. (acom-healthcare.dev)
Palms3
  • Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. (beds.ac.uk)
  • It consists of persistent thickening of the epidermis over the palms and soles and is characterized by keratinocyte hyperproliferation and excessive production of horny layer (hyperkeratosis) that develop in response to an inherent fragility of the tissue or a dysregulation of cell proliferation. (biomedcentral.com)
  • A well-demarcated, thick, yellow hyperkeratosis is present over the palms and soles. (symptoma.com)
Acanthoma1
  • Case of isolated epidermolytic acanthoma: Genetic and immunohistochemical analysis. (nih.gov)
Nonepidermolytic1
  • Vorner (epidermolytic) PPK and Unna-Thost (nonepidermolytic) PPK are the result of keratin mutations and show waxy or verrucous, white-yellow, symmetric hyperkeratosis. (logicalimages.com)
Severe1
  • The disease starts in early childhood with severe hyperkeratosis of yellow-brown or grey color, and of spiky, cobblestone-like (hystrix) or verrucous appearance. (orpha.net)
Syndrome3
  • Howel-Evans syndrome is associated with mutations in the TOC gene, focal weight-bearing area plantar hyperkeratosis, milder palm involvement, and development of esophageal carcinoma. (logicalimages.com)
  • Focal PPK may also be seen in pachyonychia congenita type I and type II (syndromes with nail, skin, teeth, and eye anomalies) as well as Carvajal syndrome (striate focal epidermolytic PPK with woolly hair and dilated cardiomyopathy). (logicalimages.com)
  • Hidrotic ectodermal dysplasia 2, or Clouston syndrome (referred to as HED2 throughout this GeneReview) is characterized by a triad of major clinical features including partial-to-complete alopecia, nail dystrophy, and palmoplantar hyperkeratosis. (beds.ac.uk)
Scaly2
  • Epidermolytic hyperkeratosis is part of a group of conditions called ichthyoses, which refers to the scaly skin seen in individuals with related disorders. (medlineplus.gov)
  • However, in epidermolytic hyperkeratosis, the skin is thick but not scaly as in some of the other conditions in the group. (medlineplus.gov)
Diffuse3
  • Hereditary PPKs are approached and classified by the pattern of hyperkeratosis: diffuse, focal (often occurring over weight-bearing areas), or punctate. (logicalimages.com)
  • Mal de Meleda is a rare diffuse hereditary PPK associated with SLURP1 mutations and features stocking-glove distribution of hyperkeratosis with malodor and nail changes. (logicalimages.com)
  • Hyperkeratosis is often diffuse and more pronounced on extensor areas of the limbs, extremities and the trunk. (orpha.net)
Epidermolysis1
  • In 1998 they developed an inducible mouse model for epidermolysis hyperkeratosis which is viable, because the expression of a mutant K10 allele can be restricted to a focal area of the skin. (wikipedia.org)
Parakeratosis1
Palmoplantar keratosis1
  • Conditions characterized by palmoplantar keratosis (PPK) are the most causes of congenital hyperkeratosis. (faoj.org)
Histologic3
  • In the realm of pathology, epidermolytic hyperkeratosis (EHK) refers to a distinct histologic pattern. (medscape.com)
  • Histologic examination demonstrated an exophytic papule with hyperkeratosis, papillomatosis, and acanthosis of the epidermis, and characteristic hypergranulosis of the stratum granulosum and spinosum with prominent reticular degeneration ( Figure 2 ). (medscape.com)
  • Histologic sections demonstrated exophytic papules with hyperkeratosis, papillomatosis, and acanthosis of the epidermis, and characteristic hypergranulosis of the stratum granulosum and spinosum, with prominent reticular degeneration (hematoxylin-eosin stain, original magnification 200X). (medscape.com)
Papillomatosis1
  • There are occasional dyskeratotic cells, while koilocytes are absent (hematoxylin-eosin, original magnifications 10 [A] and 400 [B]). There is marked papillomatosis with usually mild hyperkeratosis (Figure 2, A). Lester D. R. Thompson. (snepal.com)
Thick skin1
  • This condition is characterized by red, blistering skin at an early age and thick skin (hyperkeratosis) later in life. (nih.gov)
Disorder1
Hyperproliferation1
  • Compensatory hyperproliferation leads to hyperkeratosis. (medscape.com)
Involvement1
  • Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement. (medscape.com)
Keratoderma2
  • Bergman R, Khamaysi Z, Sprecher E. A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. (medscape.com)
  • 18. A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. (nih.gov)