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