Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (poiktmp): a case series of 28 patients.
Fiche publication
Date publication
avril 2019
Journal
The British journal of dermatology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr LIPSKER Dan
Tous les auteurs :
Chasseuil E, McGrath JA, Seo A, Balguerie X, Bodak N, Chasseuil H, Denis-Musquer M, Goldenberg A, Goussot R, Irvine AD, Khumalo NP, King MC, Küry S, Lipsker D, Mallet S, Mayosi BM, Nanda A, Puzenat E, Salort-Campana E, Sidbury R, Shimamura A, Bézieau S, Mercier S, Barbarot S
Lien Pubmed
Résumé
Dear Editor, Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy and Pulmonary Fibrosis (POIKTMP [MIM 615704]) is a recently described autosomal dominant disorder due to missense mutations in the FAM111B gene. Key features are early-onset poikiloderma, muscle contractures in particular of the triceps surae, diffuse progressive fatty myopathy, pulmonary fibrosis in adulthood and exocrine pancreatic insufficiency. Dermatological manifestations seem to be constant and early however, a precise description is lacking. This article is protected by copyright. All rights reserved.
Référence
Br. J. Dermatol.. 2019 Apr 10;: