acne inversa—familial 1

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acne inversa—familial 12016-11-24T11:55:26+00:00

acne inversa—familial 1 

DERMATOLOGY, MOLECULAR MEDICINE

A chronic relapsing inflammatory disorder (OMIM:142690) of hair follicles characterised by recurrent draining sinuses, painful skin abscesses, and disfiguring scars, which usually appear after puberty.

Molecular pathology Haploinsufficiency of NCSTN, which encodes nicastrin, a subunit of the gamma-secretase complex that catalyses intramembrane cleavage of integral membrane proteins, cause acne inversa—familial 1.

Synonyms Acne inversa—familial, hidradenitis suppurativa—familial

References http://www.uniprot.org/uniprot/Q92542

http://www.omim.org/entry/142690

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