Lamellar Ichthyosis

Other names: n-CIE; non-bullous congenital ichthyosiform erythroderma

OMIM: 242300

 
Inheritance: autosomal recessive

Incidence: 1:200,000

Key findings:

  • skin: generalized flat, polygonal, dark, often large (>1cm) scales; palms and soles usually thickened; variable redness under scales; ectropion usually present
  • hair: no shaft abnormalities; may become sparse
  • nails: usually normal; may become dystrophic
Associated findings: apparently none in those with a transglutaminase mutation

 

Age at first appearance: birth, usually as collodion baby

Long-term course: lifelong; little fluctuation in severity of scale or redness; increased susceptibility to bacterial and fungal infections of skin; heat intolerance may be a problem for some

Diagnostic tests: analysis of cellular DNA

Abnormal gene: transglutaminase 1 in 50-75% of individuals; unknown in others
 

 

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