https://orcid.org/0000-0002-3708-9964
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E. Chasseuil, J.A. McGrath, A. Seo, X. Balguerie, N. Bodak, H. Chasseuil, M. Denis‐Musquer, A. Goldenberg, R. Goussot, A.D. Irvine, N.P. Khumalo, M.C. King, S. Küry, D. Lipsker, S. Mallet, B.M. Mayosi, A. Nanda, E. Puzenat, E. Salort‐Campana, R. Sidbury, A. Shimamura, S. Bézieau, S. Mercier, S. Barbarot, Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients, British Journal of Dermatology, Volume 181, Issue 4, 1 October 2019, Pages 862–864, https://doi.org/10.1111/bjd.17996
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A full list of affiliations is available in Appendix S1 (see Supporting Information).
S.M. and S.B. contributed equally and should be considered joint last authors.
Funding sources: none.
Conflicts of interest: none to declare.
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.1 Key features are early‐onset poikiloderma, muscle contractures (particularly 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.2
We report a retrospective multicentre case series whose objective was to describe the cutaneous manifestations of all known patient cases of POIKTMP. Cases were identified by literature review (end of search February 2019) and from our institution.2,3,4,5,6 A questionnaire was sent to the treating medical physician. Missing data were supplemented, where possible, from already published case reports. The study was approved by the French Committee for the Protection of Persons (CPP). Written informed consent was obtained for patients or their legal guardian.
