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congenital nonbullous ichthyosiform erythroderma
Pathology:
- nonbullous ichthyosis
- abnormal cornification of the epidermis
Genetics:
- autosomal recessive
- associated with defects in transglutaminase-1
Clinical manifestations:
- most affected individuals are born with a tight, shiny, translucent covering called collodion membrane
- the collodion membrane subsequently evolves into generalized scaling & intense redness of the skin
- clinical features are milder than in lamellar ichthyoses & demonstrate a greater variability in the intensity of erythema, size & type of scales
- in contrast to lamellar ichthyoses, scales are usually white, fine & powdery, & palms & soles are severely affected
- patients suffer from palmoplantar keratoderma, often with painful fissures, digital contractures, & loss of pulp volume
Related
erythroderma (exfoliative dermatitis)
Specific
nonbullous congenital ichthyosiform erythroderma 1
General
autosomal recessive lamellar ichthyosis
Database Correlations
OMIM correlations
MORBIDMAP 190195
References
- OMIM :accession 242300
- UniProt :accession P22735