Yao syndrome: a novel systemic autoinflammatory disease with cutaneous manifestations

Author:

Shakhashiro Muna1ORCID,Sadeghian Shadi2,Newcomer Jack3ORCID,Marzano Angelo Valerio45ORCID,Maronese Carlo Alberto45ORCID,Davis John M.6,Alavi Afsaneh3

Affiliation:

1. University of Kentucky College of Medicine Lexington KY USA

2. Michael G. DeGroote School of Medicine McMaster University Hamilton ON Canada

3. Department of Dermatology Mayo Clinic Rochester MN USA

4. Dermatology Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

5. Department of Pathophysiology and Transplantation Università degli Studi di Milano Milan Italy

6. Division of Rheumatology Mayo Clinic Rochester MN USA

Abstract

AbstractYao syndrome (YAOS) is a novel systemic autoinflammatory disease linked to the nucleotide‐binding oligomerization domain (NOD2) gene. It is characterized by periodic fevers, gastrointestinal (GI) symptoms, arthritis, and dermatitis, among other symptoms. A sparse literature exists on this disease, and little is known about its dermatological manifestations. A review of available literature was performed to characterize the cutaneous manifestations of Yao syndrome. Cutaneous manifestations were documented in 85.7% of patients, with common characteristic descriptions of erythematous patches and plaques involving the face, trunk, abdomen, and extremities. Based on our review of treatment modalities employed for Yao syndrome, prednisone is an appropriate initial approach, with oral sulfasalazine and other disease‐modifying antirheumatic drugs serving as appropriate secondary options. YAOS should be considered in the differential diagnosis of patients presenting with a dermatitic rash, especially in the context of concurrent articular symptoms, periodic fever, and GI symptoms.

Publisher

Wiley

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