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nonbullous congenital ichthyosiform erythroderma 1
Genetics:
- mutation in gene for
a) transglutaminase-1 gene
b) 12R-lipoxygenase
c) epidermis-type lipoxygenase 3
Clinical manifestations:
1) prominent erythroderma
2) fine white, superficial, semiadherent scales
3) 90% of affected individuals present at birth as collodion babies
4) palmoplantar keratoderma
5) painful fissures
8) digital contractures,
9) loss of pulp volume
10) nail dystrophy
a) ridging
b) subungeal hyperkeratosis
c) hypoplasia
Related
epidermis-type lipoxygenase 3; e-LOX-3 (ALOXE3)
transglutaminase-1, keratinocyte transglutaminase, epidermal transglutaminase, or transglutaminase-K
General
congenital nonbullous ichthyosiform erythroderma
Database Correlations
OMIM 242100
References
OMIM :accession 242100