Diseases

Epidermolytic Hyperkeratosis

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

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Classification

Broader headings

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MeSH Record

Synonyms

22 entry terms
  • Bullous Congenital Ichthyosiform Erythroderma
  • Bullous Erythroderma Ichthyosiforme
  • Bullous Erythroderma Ichthyosiformis Congenita of Brocq
  • Bullous Ichthyosiform Erythroderma
  • Bullous Ichthyosiform Erythroderma Congenital
  • Congenital Bullous Ichthyosiform Erythroderma
  • Congenital Ichthyosiform Erythroderma, Bullous
  • Epidermolytic Ichthyosis
  • Erythroderma Ichthyosiforme, Bullous
  • Hyperkeratosis, Epidermolytic
  • Ichthyosiform Erythroderma, Bullous Congenital
  • Bullous Erythroderma Ichthyosiformes
  • Bullous Ichthyosiform Erythrodermas
  • Epidermolytic Hyperkeratoses
  • Erythroderma Ichthyosiformes, Bullous
  • Erythroderma, Bullous Ichthyosiform
  • Erythrodermas, Bullous Ichthyosiform
  • Hyperkeratoses, Epidermolytic
  • Ichthyosiform Erythroderma, Bullous
  • Ichthyosiform Erythrodermas, Bullous
  • Ichthyosiforme, Bullous Erythroderma
  • Ichthyosiformes, Bullous Erythroderma

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

1993(1979); use ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL 1991-1992; for ERYTHRODERMA ICHTHYOSIFORME, BULLOUS use ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL 1991-1992, use SKIN DISEASES, BULLOUS 1979-1990

MeSH Record

Previous Indexing

  • Ichthyosiform Erythroderma, Congenital (1991-1992)
  • Ichthyosis (1966-1992)
  • Keratosis (1972-1992)
  • Skin Diseases, Vesiculobullous (1972-1992)

MeSH Hierarchy

Tree Numbers

  1. C16w.131w.831.512w.400w.375w
  2. C16w.320w.850w.400w.375w
  3. C16w.614.492w.400w.375w
  4. C17.800w.428w.333w.250w.375w
  5. C17.800w.804.512w.400w.375w
  6. C17.800w.827w.400w.375w

AMA Style

References

  1. National Library of Medicine. Epidermolytic Hyperkeratosis. Medical Subject Headings (MeSH). 2026. Unique ID D017488. http://id.nlm.nih.gov/mesh/2026/D017488
  2. Epidermolytic Hyperkeratosis. In: Wikipedia. https://en.wikipedia.org/wiki/Epidermolytic_hyperkeratosis
  3. Epidermolytic Hyperkeratosis. In: Wikidata. https://www.wikidata.org/wiki/Q3801491