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Original Research

BMB. 2022; 7(1): 70-76

What is the share of mucocutaneous manifestations in the clinical presentation of monogenic autoinflammatory diseases? A single-center experience

Oya Koker, Nuray Aktay Ayaz.


Objective: The aim of the study was to determine the distribution, frequency, and characteristics of mucocutaneous manifestations along with other clinical and laboratory data in the presentation of monogenic autoinflammatory diseases.
Methods: The study was performed with the patients being followed-up with a diagnosis of autoinflammatory diseases at the Pediatric Rheumatology Department in Istanbul Faculty of Medicine. Medical records on clinical and laboratory characteristics covering the date range from January 1, 2018, to September 1, 2021, were retrospectively reviewed.
Results: The study cohort (n=97) demonstrated a distribution as familial Mediterranean fever (n=64, 66%), mevalonate kinase deficiency (n=16, 16.5%), cryopyrin-associated periodic syndromes (n=11, 11.3%), TNF receptor-associated periodic syndrome (n=6, 6.2%). Among the entire cohort, 59.8% was female. The median age at diagnosis and at the study were 71 (3-195) and 147 (34-253) months, respectively. Mucocutaneous involvement (34%, n=33) appeared as erysipelas-like, urticaria-like, maculopapular or morbilliform in character. The location and extent of rash differed between the subgroups, limited to a localized area in patients with familial Mediterranean fever, but scattered in patients with cryopyrin-associated periodic syndromes.
Conclusion: The location and character of the mucocutaneous signs demonstrated a consistent distribution according to the subgroups. Skin manifestations accompany almost all subtypes and may provide a clue regarding the subdivision and pathological mechanism of the disease.

Key words: autoinflammatory diseases, mucocutaneous manifestations, pediatric rheumatology

Article Language: Turkish English

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