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
