ichthyosis—congenital—autosomal recessive 5

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ichthyosis—congenital—autosomal recessive 52016-11-26T06:17:34+00:00

ichthyosis—congenital—autosomal recessive 5  


Definition An autosomal recessive form of (OMIM:604777) congenital ichthyosis*.

*A disorder of keratinisation with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body.

Main ichthyosis phenotypes

Lamellar ichthyosis A condition in which the infant is encased in a collodion-like membrane at birth; skin scales develop later and cover the entire body.

Non-bullous congenital ichthyosiform erythroderma A condition characterised by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.

Note: Phenotypic overlaps occur in the same patient or among patients from the same family.

Molecular pathology Defects of CYP4F22, which encodes a cytochrome P450 enzyme, cause ichthyosis—congenital—autosomal recessive 5.

Synonyms Ichthyosis congenita III, ichthyosis—nonlamellar and nonerythrodermic—congenital—autosomal recessive, ichthyosis—lamellar—3, lamellar ichthyosis

References http://www.uniprot.org/uniprot/Q6NT55


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