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congenital ichthyosis
Represents a group of disorders with a wide spectrum of clinical presentations ranging from Harlequin ichthyosis to lamellar ichthyosis & nonbullous congenital ichthyosiform erythroderma
Pathology:
- keratinization with non inflammatory dryness & scaling of skin
Genetics:
- associated with defects in ichthyin gene (autosomal recessive)
Clinical manifestations:
- non-bullous congenital ichthyosiform erythroderma
- fine whitish scaling on an erythrodermal background
- larger brownish scales are present on the buttocks, neck & legs
- some of the families may show a more lamellar ichthyosis phenotype
Specific
ichthyosis autosomal recessive with hypotrichosis
lamellar ichthyosis
General
ichthyosis; erythrokeratodermia variabilis
Database Correlations
OMIM 609383
References
- UniProt :accession Q0D2K0
- OMIM :accession 609383