Jump to content

PubMed RSS Feed - -Rosacea and demodicidosis associated with gain-of-function mutation in STAT1.


Recommended Posts

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

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

Link to comment
Share on other sites

Create an account or sign in to comment

You need to be a member in order to leave a comment

Create an account

Sign up for a new account in our community. It's easy!

Register a new account

Sign in

Already have an account? Sign in here.

Sign In Now
  • Create New...

Important Information

Terms of Use