Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome

Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP), also known as hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome, is an extremely rare multisystem disorder caused by biallelic mutations in the FAM111B gene. This condition is characterized by a distinctive combination of skin, musculoskeletal, and pulmonary manifestations that typically begin in early childhood and progress over time. The hallmark skin finding is poikiloderma, which refers to patches of skin showing a combination of atrophy, abnormal pigmentation (both increased and decreased), and prominent small blood vessels (telangiectasia). These skin changes often have a sclerotic or fibrosing quality. Affected individuals develop progressive tendon contractures, particularly of the fingers and large joints, which limit mobility. Myopathy (muscle weakness) is another core feature, contributing to functional impairment. Perhaps the most serious complication is progressive pulmonary fibrosis, which involves scarring of lung tissue that can lead to respiratory insufficiency and represents a major source of morbidity and mortality. Additional features may include short stature, hepatomegaly, exocrine pancreatic insufficiency, and liver fibrosis, reflecting the widespread nature of the fibrosing process across multiple organ systems. There is currently no specific or curative treatment for this condition. Management is supportive and multidisciplinary, focusing on physical therapy for contractures, pulmonary rehabilitation and monitoring for lung fibrosis, dermatologic care, and nutritional support when pancreatic insufficiency is present. Regular surveillance of pulmonary function is essential given the progressive nature of the lung disease.

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