OMIM Entry – # 142690 – ACNE INVERSA, FAMILIAL, 1; ACNINV1

OMIMO

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/142690

Tags:
0 Comments

Leave a reply

HSAWARENESS.ORG | Fighting for Hidradenitis suppurativa (HS), a.k.a Acne Inversa Patient and Doctor Awareness ©2018 hidradenitissuppurativaawareness.org  All Rights Reserved. Your use of this website constitutes explicit agreement to our Terms of Use and Privacy Policies. This website does not provide medical advice, diagnosis or treatment.

Log in with your credentials

Forgot your details?