Other names: ichthyosis hystrix; ichthyosis bullosa of Siemens; b-CIE; bullous congenital ichthyosiform erythroderma; (formerly epidermolytic hyperkeratosis (EHK)

OMIM: 113800

Inheritance: autosomal dominant (50% new mutations)

Incidence: rare (1:300,000)

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 K2

Clinicians seeking to confirm a diagnosis should visit FIRST's TeleIchthyosis site to submit a case to experts in ichthyosis.

To learn more about epidermolytic ichthyosis, follow this link.

Learn more about FIRST's Regional Support Network -  connecting affected individuals and families with each other. Or call the FIRST office at 800.545.3286.

This information is provided as a service to patients and parents of patients who have ichthyosis.  It is not intended to supplement appropriate medical care, but instead to complement that care with guidance in practical issues facing patients and parents.  Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors nor Foundation staff and officials endorse any treatments or products reported here.  All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.

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