ichthyosis lamellar type 1
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Pathology
- non-bullous ichthyosis
- abnormal cornification of the epidermis
Genetics
- autosomal recessive
- associated with defects in transglutaminase-1
Clinical manifestations
- one the most severe forms of ichthyoses apparent at birth & persisting throughout life
- patients are born encased in a tight, shiny, translucent covering called collodion membrane
- over the first weeks of life, the collodion membrane is gradually replaced by generalized large, dark brown, plate-like scales with minimal to no erythroderma
- tautness of facial skin commonly results in ectropion, eclabium & scarring alopecia of the scalp
Complications
- severe heat intolerance
- recurrent ear infections