Inversa Acne (Hidradenitis Suppurativa): A Case Report and Identification of the Locus at Chromosome 1p21.1–1q25.3

• Published in: Journal of investigative dermatology Vol. 126; no. 6; pp. 1302 - 1306
• Main Authors: Gao, Min, Wang, Pei-Guang, Cui, Yong, Yang, Sen, Zhang, Yu-Hui, Lin, Da, Zhang, Kai-Yue, Liang, Yan-Hua, Sun, Liang-Dan, Yan, Kai-Lin, Xiao, Feng-Li, Huang, Wei, Zhang, Xue-Jun
• Format: Journal Article
• Language: English
• Published: Danvers, MA Elsevier Inc 01.06.2006; Nature Publishing; Elsevier Limited
• Subjects: Adult; Asian Continental Ancestry Group - genetics; Biological and medical sciences; Chromosome Mapping; Chromosomes, Human, Pair 1 - genetics; Dermatology; Genetic Linkage; Genetic Markers; Haplotypes; Hidradenitis Suppurativa - genetics; Hidradenitis Suppurativa - pathology; Humans; Male; Medical sciences; Pedigree; Skin involvement in other diseases. Miscellaneous. General aspects; Case study; Skin disease; Hidradenitis suppurativa; Dermatology; Chromosome A1; Genetics; Identification; Locus; Sweat gland disease
• ISSN: 0022-202X; 1523-1747
• DOI: 10.1038/sj.jid.5700272

Acne inversa (hidradenitis suppurativa) is a chronic relapsing inflammatory skin disease characterized by recurrent draining sinuses and abscesses, predominantly in skin folds that carry terminal hairs and apocrine glands. The genetic basis for this disease is unknown. In this study, we performed a genome-wide scan in a four-generation Chinese family to map the chromosome location of the responsible gene. We first identified a locus at chromosome 1p21.1–1q25.3 with the maximum logarithm of odds (LOD) score of 3.26 at the marker D1S2624 (at recombination fraction=0.00). The other two-point LOD scores ≥3 were observed at markers D1S2695, D1S2726, D1S252, and D1S2777. Haplotype analysis localized this locus to a 76Mb region flanked by D1S248 and D1S2711. This is the first locus for the inversa acne and will be a starting point towards understanding the molecular mechanisms of this disease.