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ichthyosis lamellar type 1
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
General
autosomal recessive lamellar ichthyosis
Database Correlations
OMIM correlations
MORBIDMAP 190195
References
- OMIM :accession 242300
- UniProt :accession P22735