Rosacea and demodicidosis associated with gain-of-function mutation in STAT1

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.

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