Acne inversa is a chronic relapsing inflammatory and painful skin disease characterized by recurrent draining sinuses and abscesses, predominantly in skin folds that carry terminal hairs and apocrine glands. The inflammation occasionally leads to squamous cell carcinoma. Healing occurs with substantial scarring. The prevalence of acne inversa has been estimated at 1 in 100 to 1 in 600. It affects women more often than men with a ratio from 2:1 to 5:1. Both genetic and environmental factors have been identified as potential causes.
There is no cure for acne inversa, but there are various treatments available, depending on the stage. Mild cases can be treated with self-care measures, including local hygiene and ordinary hygiene, application of warm compresses with sodium chloride solution, losing weight, and stopping smoking. Moderate cases may require medications such as: antibiotics, oral retinoid medications, and Nonsteroidal anti-inflammatory drugs. For severe cases surgery may be necessary.
Acne inversa is an autosomal dominant disease with more than one genetic factor responsible for its occurance. Rare mutations have been reported in Presenilin-1 (PSEN1), Presenilin Enhancer-2 homolog (PSENEN), and Nicastrin (NCSTN) genes and on 3 loci on chromosome 1, 6 and 19, mostly, with an autosomal dominant inheritance. Familial acne inversa-1is associated with mutations in NCSTN gene, which encodes nicastrin.