title: The Genetics of Hidradenitis Suppurativa.
abstract: A family history of hidradenitis suppurativa (HS) is reported by about one-third of patients, and the pattern of inheritance suggests a single gene disorder inherited as an autosomal dominant trait. Several γ-secretase gene mutations were identified in 6 Han Chinese families with multiple affected family members. Several of the Han Chinese patients had a severe disease phenotype, with involvement of nonflexural skin locations such as the back and chest. These findings have been repeated in other populations, but γ-secretase mutations have been found only in a minority of patients with HS.
authors.affiliation: Department of Dermatology & Wound Healing, University Hospital of Wales, Cardiff University, 3rd Floor Glamorgan House, Heath Park, Cardiff CF14 4XN, UK. Electronic address: ingramjr@cardiff.ac.uk.
authors.forename: John R
authors.initials: JR
authors.lastname: Ingram
mesh_terms: D053829:Amyloid Precursor Protein Secretases / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D006579:Heterozygote; D017497:Hidradenitis Suppurativa / Q000235:genetics*; D006801:Humans; D009154:Mutation; D051880:Receptors, Notch; D015398:Signal Transduction; D044465:White People / Q000235:genetics
chemical_list: D051880:Receptors, Notch; D053829:Amyloid Precursor Protein Secretases
keywords: Gamma secretase; Genetics; Hidradenitis suppurativa; Notch signaling