ichthyosis, lamellar, 1

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ichthyosis, lamellar, 1

A genetically distinct, autosomal recessive condition (OMIM:242300) that is clinically similar to other lamellar ichthyoses, which are characterised by abnormal epidermal cornification. These patients are born encased in a tight, shiny, translucent covering or collodion membrane, which, over the first weeks of life, is gradually replaced by large, dark-brown, plate-like scales with minimal to no erythroderma. Tautness of facial skin commonly results in ectropion, eclabium and scarring alopecia of the scalp, often accompanied by severe heat intolerance and recurrent ear infections.

Molecular pathology
Defects of TGM1, which encodes a transglutaminase, cause lamellar ichthyosis type 1.