Epidermolytic Ichthyosis (EI)

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 (1:100,000?)

Key findings:

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

Meet Brennan
(a mother's perspective)
  Meet Esther  

Meet Adam
(a mother's perspective)


Learn more about FIRST's Regional Support Network -  connecting affected individuals and families with each other.

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

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