The Genetics of Hidradenitis Suppurativa

The Genetics of Hidradenitis Suppurativa
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DOI:
10.1016/j.det.2015.07.002
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发表时间:
2016-01-01
影响因子:
2.4
通讯作者:
Ingram, John R.
Ingram, John R.
中科院分区:
医学2区
文献类型:
--
作者:
Ingram, John R.

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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 g-secretase gene mutations were identified in 6 Han Chinese families with multiple affected family members. Some 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 replicated in European populations, but g-secretase mutations have been found only in a minority of patients with HS.