Fiche publication
Date publication
juin 2017
Journal
Journal of the European Academy of Dermatology and Venereology : JEADV
Auteurs
Membres identifiés du Cancéropôle Est :
Pr LIPSKER Dan
,
Dr JANNIER Sarah
Tous les auteurs :
Second J, Korganow AS, Jannier S, Puel A, Lipsker D
Lien Pubmed
Résumé
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.
Référence
J Eur Acad Dermatol Venereol. 2017 Jun;:
