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

Abstract

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 76 Mb 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.

Hidradenitis suppurativa

“…An autosomal dominant pattern has been reported, and a linkage to a locus at chromosome 1p21.1-1q25.3 [32] has been reported in one family but with no linkage in other families. HS appears to be a genetically heterogeneous disease with several mutations at various locations.…”

Hidradenitis suppurativa: A comprehensive review

“…53 However, because of the considerable size of this region, a specific gene was not identified. 53 Endocrinologic factors. The role of hormones in HS is still being defined, with many studies demonstrating conflicting results.…”

Human β-defensin-2 and psoriasin are overexpressed in lesions of acne inversa

“…A broad range of contributing factors have been suggested including endocrine, genetic, infectious, and immunologic factors. 1,4 Lately, increased attention has been paid to the role of the immune system in the genesis, maintenance, or both of acne inversa. This is based on a growing number of studies reporting therapeutic success in the treatment of acne inversa with antitumor necrosis factor (TNF)-a agents such as infliximab and etanercept, 5 thereby suggesting that an altered immune response may contribute to the chronic inflammation.…”