rss Posted June 18, 2017 Report Share Posted June 18, 2017 Related Articles Rosacea and demodicidosis associated with gain-of-function mutation in STAT1. J Eur Acad Dermatol Venereol. 2017 Jun 16;: Authors: Second J, Korganow AS, Jannier S, Puel A, Lipsker D Abstract We report a family in which 3 of 5 children as well as the mother, had a gain-of-function (GOF) mutation in the signal transducer and activator of transcription (STAT1) associated with early-onset rosacea and demodicidosis. The proband case (Fig. 1) was a 13-year-old boy of non-consanguineous parents, known for a hypothyroidism, failure to thrive and chronic mucocutaneous candidiasis (CMC) since he was 5-6 years old. On examination, he had medio-facial erythema with telangiectasia, as well as sometimes pruritic papulopustular lesions of the face and neck. This article is protected by copyright. All rights reserved. PMID: 28622416 [PubMed - as supplied by publisher] {url} = URL to article Quote Link to comment Share on other sites More sharing options...
Recommended Posts
Join the conversation
You can post now and register later. If you have an account, sign in now to post with your account.
Note: Your post will require moderator approval before it will be visible.