410 Pyrin-associated auto-inflammation with neutrophilic dermatosis (PAAND): Novel autosomal recessive MEFV mutation and successful treatment with colchicine

PAAND is a recently described monogenic auto-inflammatory disorder which shares clinical features with Familial Mediterranean Fever (FMF). PAAND unlike FMF, is not associated with serositis or amyloidosis. Although, different recessive and dominant mutations in MEFV can cause FMF, up to now, all reported cases of PAAND were associated with a dominant p.S242R mutation in MEFV. The proband was a 5-years old female born to healthy, consanguineous parents. She developed an oral aphthous ulcer at 20 days of age, followed by a maculo-papular and pustular skin rash on the perioral region and upper and lower extremities.

Source: Journal of Investigative Dermatology - April 19, 2019 Category: Dermatology Authors: S. Shahrokh, M. Faghankhani, A. Jazayeri, L. Youssefian, H. Vahidnezhad, V. Ziaee, A.H. Saeidian, S. Zeinali, J. Uitto Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research