Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma

Raphaëlle Goussot; Megana Prasad; Corinne Stoetzel; Cédric Lenormand; Hélène Dollfus; Dan Lipsker

doi:10.1016/j.jdcr.2017.01.002

Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma

JAAD Case Rep. 2017 Mar 19;3(2):143-150. doi: 10.1016/j.jdcr.2017.01.002. eCollection 2017 Mar.

Authors

Raphaëlle Goussot¹, Megana Prasad², Corinne Stoetzel², Cédric Lenormand¹, Hélène Dollfus², Dan Lipsker¹

Affiliations

¹ Faculté de Médecine, Université de Strasbourg et Clinique Dermatologique, Hôpitaux Universitaires, Strasbourg, France.
² Laboratoire de génétique médicale, Faculté de médecine de Strasbourg, Institut de génétique médicale d'Alsace, Université de Strasbourg, Strasbourg, France.

No abstract available

Keywords: FAM111B; IPMN, intraductal papillary mucinous neoplasm; POIKTMP, hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis; RTS, Rothmund-Thomson syndrome; inherited poikiloderma; pancreatic cancer.

Publication types

Case Reports