Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (poiktmp): a case series of 28 patients.

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

https://www.ncbi.nlm.nih.gov/pubmed/30972747

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;: