 Hyperkeratosis, Epidermolytic
"Hyperkeratosis, Epidermolytic" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D017488
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| MeSH Number(s) |
C16.131.831.512.400.375 C16.320.850.400.375 C16.614.492.400.375 C17.800.428.333.250.375 C17.800.804.512.400.375 C17.800.827.400.375
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| Concept/Terms |
Hyperkeratosis, Epidermolytic- Hyperkeratosis, Epidermolytic
- Epidermolytic Hyperkeratoses
- Hyperkeratoses, Epidermolytic
- Bullous Congenital Ichthyosiform Erythroderma
- Congenital Bullous Ichthyosiform Erythroderma
- Ichthyosiform Erythroderma, Bullous Congenital
- Epidermolytic Ichthyosis
- Bullous Ichthyosiform Erythroderma Congenital
- Bullous Erythroderma Ichthyosiformis Congenita of Brocq
- Bullous Ichthyosiform Erythroderma
- Bullous Ichthyosiform Erythrodermas
- Erythroderma, Bullous Ichthyosiform
- Erythrodermas, Bullous Ichthyosiform
- Ichthyosiform Erythroderma, Bullous
- Ichthyosiform Erythrodermas, Bullous
- Epidermolytic Hyperkeratosis
- Bullous Erythroderma Ichthyosiforme
- Erythroderma Ichthyosiforme, Bullous
- Bullous Erythroderma Ichthyosiformes
- Erythroderma Ichthyosiformes, Bullous
- Ichthyosiforme, Bullous Erythroderma
- Ichthyosiformes, Bullous Erythroderma
- Congenital Ichthyosiform Erythroderma, Bullous
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Below are MeSH descriptors whose meaning is more general than "Hyperkeratosis, Epidermolytic".
- Diseases [C]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
- Skin Abnormalities [C16.131.831]
- Ichthyosis [C16.131.831.512]
- Ichthyosiform Erythroderma, Congenital [C16.131.831.512.400]
- Hyperkeratosis, Epidermolytic [C16.131.831.512.400.375]
- Genetic Diseases, Inborn [C16.320]
- Skin Diseases, Genetic [C16.320.850]
- Ichthyosiform Erythroderma, Congenital [C16.320.850.400]
- Hyperkeratosis, Epidermolytic [C16.320.850.400.375]
- Infant, Newborn, Diseases [C16.614]
- Ichthyosis [C16.614.492]
- Ichthyosiform Erythroderma, Congenital [C16.614.492.400]
- Hyperkeratosis, Epidermolytic [C16.614.492.400.375]
- Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
- Keratosis [C17.800.428]
- Ichthyosis [C17.800.428.333]
- Ichthyosiform Erythroderma, Congenital [C17.800.428.333.250]
- Hyperkeratosis, Epidermolytic [C17.800.428.333.250.375]
- Skin Abnormalities [C17.800.804]
- Ichthyosis [C17.800.804.512]
- Ichthyosiform Erythroderma, Congenital [C17.800.804.512.400]
- Hyperkeratosis, Epidermolytic [C17.800.804.512.400.375]
- Skin Diseases, Genetic [C17.800.827]
- Ichthyosiform Erythroderma, Congenital [C17.800.827.400]
- Hyperkeratosis, Epidermolytic [C17.800.827.400.375]
Below are MeSH descriptors whose meaning is more specific than "Hyperkeratosis, Epidermolytic".
This graph shows the total number of publications written about "Hyperkeratosis, Epidermolytic" by people in this website by year, and whether "Hyperkeratosis, Epidermolytic" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1994 | 3 | 0 | 3 | | 1995 | 1 | 0 | 1 | | 1996 | 1 | 0 | 1 | | 1997 | 1 | 0 | 1 | | 1998 | 2 | 0 | 2 | | 1999 | 2 | 0 | 2 | | 2000 | 1 | 0 | 1 | | 2001 | 1 | 0 | 1 | | 2004 | 0 | 1 | 1 | | 2005 | 1 | 0 | 1 | | 2008 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Hyperkeratosis, Epidermolytic" by people in Profiles.
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Tewari-Singh N, Jain AK, Orlicky DJ, White CW, Agarwal R. Cutaneous injury-related structural changes and their progression following topical nitrogen mustard exposure in hairless and haired mice. PLoS One. 2014; 9(1):e85402.
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Chen J, Roop DR. Genetically engineered mouse models for skin research: taking the next step. J Dermatol Sci. 2008 Oct; 52(1):1-12.
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High WA, Miller MD. Localized epidermolytic hyperkeratosis of the female genitalia: a case report and review of an underappreciated disorder of women. MedGenMed. 2005 Nov 03; 7(4):33.
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Arin MJ, Roop DR. Inducible mouse models for inherited skin diseases: implications for skin gene therapy. Cells Tissues Organs. 2004; 177(3):160-8.
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Arin MJ, Longley MA, Wang XJ, Roop DR. Focal activation of a mutant allele defines the role of stem cells in mosaic skin disorders. J Cell Biol. 2001 Feb 05; 152(3):645-9.
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Arin MJ, Longley MA, Epstein EH, Rothnagel JA, Roop DR. Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis. Exp Dermatol. 2000 Feb; 9(1):16-9.
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Arin MJ, Longley MA, K?ster W, Huber M, Hohl D, Rothnagel JA, Roop DR. An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis. Exp Dermatol. 1999 Apr; 8(2):124-7.
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Arin MJ, Longley MA, Anton-Lamprecht I, Kurze G, Huber M, Hohl D, Rothnagel JA, Roop DR. A novel substitution in keratin 10 in epidermolytic hyperkeratosis. J Invest Dermatol. 1999 Apr; 112(4):506-8.
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Suga Y, Duncan KO, Heald PW, Roop DR. A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. J Invest Dermatol. 1998 Dec; 111(6):1220-3.
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Rothnagel JA, Lin MT, Longley MA, Holder RA, Hazen PG, Levy ML, Roop DR. Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis. Prenat Diagn. 1998 Aug; 18(8):826-30.
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