ichthyosis—congenital—autosomal recessive 4A

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ichthyosis—congenital—autosomal recessive 4A2016-11-26T06:11:46+00:00

ichthyosis—congenital—autosomal recessive 4A 

DERMATOLOGY

Definition A form (OMIM: 601277) of autosomal recessive congenital ichthyosis*.

*Congenital ichthyosis is a disorder of keratinisation with abnormal differentiation and desquamation of the epidermis, resulting in abnormal global skin scaling

Synonyms Ichthyosis congenita IIB, ichthyosis—lamellar—type 2, LI2

Main skin phenotypes, ichthyosis

Lamellar ichthyosis–patients are typically encased in a collodion-like membrane at birth; skin scales develop later and cover the entire surface

Non-bullous congenital ichthyosiform erythroderma–patients typically are covered by fine whitish scaling on an erythrodermal background; larger brownish scales are seen on the buttocks, neck and legs.

Molecular pathology Defects of ABCA12, which encodes an ATP-binding cassette (ABC) transporter involved in lipid homeostasis, cause:

• Ichthyosis—congenital—autosomal recessive 4A (OMIM:601277) and 

• Ichthyosis—congenital—autosomal recessive 4B (OMIM:242500). 

References http://www.uniprot.org/uniprot/Q86UK0

http://www.omim.org/entry/242500

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