Acne inversa 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. Healing occurs with substantial scarring. The prevalence of acne inversa has ... Acne inversa 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. Healing occurs with substantial scarring. The prevalence of acne inversa has been estimated at 1 in 100 to 1 in 600. The female-to-male ratio in most published series is between 2:1 and 5:1 (Jansen et al., 2001). Jansen et al. (2001) provided a detailed history and review of the disorder. - Genetic Heterogeneity of Familial Acne Inversa Familial acne inversa-2 (ACNINV2; 613736) is caused by haploinsufficiency for the PSENEN gene (607632) on chromosome 19q13.1. Familial acne inversa-3 (ACNINV3; 613737) is caused by haploinsufficiency for the PSEN1 gene (104311) on chromosome 14q24.3, making this disorder allelic to early-onset Alzheimer disease (607822).
Fitzsimmons et al. (1984) observed chronic hidradenitis suppurativa in a total of 21 members (16 females, 5 males) from 3 English families. In 1 kindred, the condition was associated with acne conglobata (cystic acne) and vertical transmission through ... Fitzsimmons et al. (1984) observed chronic hidradenitis suppurativa in a total of 21 members (16 females, 5 males) from 3 English families. In 1 kindred, the condition was associated with acne conglobata (cystic acne) and vertical transmission through 3 generations was documented. In the other families, affected persons had a history of acne vulgaris with comedone formation and 2 generations were affected. No male-to-male transmission was documented; however, the authors stated that the grandfather in their family B was probably affected and, if true, this would mean one instance of father-to-son transmission. Several of the females were obese, but none had diabetes. Fitzsimmons et al. (1985) extended their studies to 23 families in which they found a total of 62 affected persons. Fitzsimmons and Guilbert (1985) reported a series based on 26 probands. 'Single gene transmission' was supported by the findings in 11 of these. In another 3 families, a history of other affected persons was obtained; in 9 families no history of other cases was found. Several of the families included persons with acne conglobata alone or with hidradenitis suppurativa.
Wang et al. (2010) identified 3 families segregating autosomal dominant acne inversa who had heterozygous loss-of-function mutations in the NCSTN gene. One family had a single-basepair deletion leading to a frameshift (605254.0001). Another had exon skipping (605254.0002), and ... Wang et al. (2010) identified 3 families segregating autosomal dominant acne inversa who had heterozygous loss-of-function mutations in the NCSTN gene. One family had a single-basepair deletion leading to a frameshift (605254.0001). Another had exon skipping (605254.0002), and the last family had a premature termination codon (605254.0003). Wang et al. (2010) found mutations causing acne inversa in other components of the gamma-secretase complex, PSENEN (607632) and PSEN1 (104311).