Epidermolytic Hyperkeratosis (EHK)

Other names: ichthyosis hystrix; ichthyosis bullosa of Siemens; b-CIE; bullous congenital ichthyosiform erythroderma

OMIM: 113800

Inheritance: autosomal dominant (50% new mutations)

Incidence: rare (1:100,000?)

Key findings:

  • skin: generalized redness; thick, generally dark, scales that tend to form parallel rows of spines or ridges,especially near large joints; the skin is fragile and blisters easily following trauma; extent of blistering and amount of scale is variable
  • nails: thickening or dystrophy of one or more nails (common)
  • hair: often sparse; no shaft abnormalities

Associated findings: none

Age at first appearance: birth

Long-term course: blistering is usually most severe at birth and improves significantly with age; scaling is lifelong; infection of blisters and blisters caused by infection is common

Diagnostic tests: skin biopsy shows characteristic changes; analysis of cellular DNA

Abnormal gene: Keratins K1, K10 or K2e


 


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