Mon, January 01, 2007

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About Ichthyosis
Collodian Baby

Other names: None

OMIM: None

Inheritance: variable

Incidence: 1:100,000 (?)

Key findings:

  • skin: parchment-like covering of entire skin surface that cracks before or shortly after birth and then peels off in 2-4 weeks; eversion of eyelids (ectropion) and lips (eclabium) improves as collodion membrane shed

Associated findings: may be none; depends on the skin type causing the collodion membrane

Age at first appearance: birth

Long-term course: depends on underlying cause; most individuals have lifelong lamellar ichthyosis or congenital ichthyosiform erythroderma; some shed the collodion membrane and have no skin or other sequelae; some have trichothiodystrophy, X-linked recessive, neutral lipid storage disease, or Gaucher's disease

Diagnostic tests: none

Abnormal gene: many

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