Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease

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Journal: Chin. Med. J. 2016 5th Dec;129(23):2834-2839

Author(s): Zhou C, Wen GD, Soe LM, Xu HJ, Du J, Zhang JZ

BACKGROUND: Acne inversa (AI), also called hidradenitis suppurativa, is a chronic, inflammatory, recurrent skin disease of the hair follicle. Familial AI shows autosomal-dominant inheritance caused by mutations in the γ-secretase genes. This study was aimed to identify the specific mutations in the γ-secretase genes in two Chinese families with AI.

METHODS: In this study, two Chinese families with AI were investigated. All the affected individuals in the two families mainly manifested with multiple comedones, pitted scars, and a few inflammatory nodules on their face, neck, trunk, axilla, buttocks, upper arms, and thighs. Reticulate pigmentation in the flexures areas resembled Dowling-Degos disease clinically and pathologically. In addition, one of the affected individuals developed anal canal squamous cell carcinoma. Molecular mutation analysis of γ-secretase genes including PSENEN, PSEN1, and NCSTN was performed by polymerase chain reaction and direct DNA sequencing.

RESULTS: Two novel mutations of PSENEN gene were identified, including a heterozygous missense mutation c.194T>G (p.L65R) and a splice site mutation c.167-2A>G.

CONCLUSIONS: The identification of the two mutations could expand the spectrum of mutations in the γ-secretase genes underlying AI and provide valuable information for further study of genotype-phenotype correlations.

Dermatology Journal and/or Publisher

Journal Name: Chinese medical journal
Journal Abbreviation: Chin. Med. J.
Journal Volume: 129, Issue: 23
Journal Date Published:

National Center for Biotechnology Information

PMI ID: 27900998
Article: Source Link
Created: 2016-11-30

Abstract Source: National Center for Biotechnology Information, U.S. National Library of Medicine Abstract Query for “Hidradenitis suppurativa”

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