Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

Conclusions:
HFP with tendon contractures, myopathy and pulmonary fibrosis, is a multisystemic disorder due to autosomal dominant FAM111B mutations. Future functional studies will help in understanding the specific pathological process of this fibrosing disorder.

Source: Orphanet Journal of Rare Diseases - October 15, 2015 Category: Internal Medicine Authors: Sandra MercierSébastien KüryEmmanuelle Salort-CampanaArmelle MagotUchenna AgbimThomas BesnardNathalie BodakChantal Bou-HannaFlora BréhéretPerrine BrunelleFlorence CaillonBrigitte ChabrolValérie Cormier-DaireAlbert DavidBruno EymardLaurence FaivreDomi Source Type: research