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

    March 2017 in “ JAAD case reports ”
    R. Goussot, Megana Prasad, Corinne Stoetzel, C. Lenormand, Hélène Dollfus, Dan Lipsker
    TLDR The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
    The document reported on an additional family affected by hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis due to FAM111B mutations, expanding the known phenotype of this condition. It raised the question of a potential cancer predisposition, particularly noting a case of pancreatic cancer in one family member. The study highlighted the clinical variability of early-onset poikiloderma and emphasized the importance of recognizing this rare genetic disorder in differential diagnoses. Further research was recommended to explore the potential oncogenic activity of FAM111B mutations.
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