OMIM Entry – # 142690 – ACNE INVERSA, FAMILIAL, 1; ACNINV1
A number sign (#) is used with this entry because familial acne inversa-1 (ACNINV1) is caused by haploinsufficiency for the gene encoding nicastrin (NCSTN; 605254 ) on chromosome 1q22-
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 ).
Source: http://www.omim.org/entry/142690Tags: Acne Inversa Genetics