IllnessAkne inversa, familial; differential diagnosis

NGS +

Acne inversa (hidradenitis suppurativa) is a chronic skin disease characterized by recurrent nodules under the skin. The nodules become painfully inflamed, especially in the armpits and groin. They tend to rupture and abscess, leaving scars after healing. These symptoms typically appear after puberty, especially in affected females. They may also form around the anus, on the buttocks or in other locations. The nodules and abscesses cause chronic pain and can lead to social isolation and depression. In rare cases, chronic abscesses on the buttocks develop into squamous cell carcinoma. Commonly, the cause of acne inversa is unknown. Genetic factors clearly play a role in its development. For example, some cases are due to variants in the NCSTN, PSEN1 or PSENEN genes that affect Notch signaling in hair follicles. Obesity and smoking appear to increase the risk of disease, and obesity is also associated with increased severity of symptoms. 30-40% of patients have at least one affected family member, which may be an underestimate. In some families, acne inversa appears to be inherited in an autosomal dominant manner. The diagnostic yield by molecular genetics is unknown, but certainly it is not close to complete. Therefore, a negative DNA test result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK534867/

• Alias: Hidradenitis suppurativa
• Alias: Hidradenitis suppurativa, familial 1-3
• Alias: Schweißdrüsenabszess
• Acne inversa, familial, 1 (NCSTN)
• Acne inversa, familial, 2 (PSENEN)
• Acne inversa, familial, 3 (PSEN1)
• Keratitis-ichthyosis-deafness syndrome, follicular occlusion triad (GJB2)
• Nevus comedonicus, multifocal hidradenitis suppurativa, acne [panelapp] (FGFR2)
• Pyogenic sterile arthritis, pyoderma gangraenosum, acne (PSTPIP1)