Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of FAM111B

Hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis (POIKTMP; Online Mendelian Inheritance in Man number, 615704) is a recently described autosomal dominant condition due to FAM111B mutation. Hallmark cutaneous findings begin in childhood and include poikiloderma, photosensitivity, and bullae on the extremities. Thin hair, sparse eyebrows, and eczematous skin changes are reported. Dermatologists play a crucial role in diagnosing this genetic disorder, which presents with recognizable skin findings in childhood and has known complications of muscular weakness with fatty myopathy, tendon contractures, pancreatic insufficiency, and life-threatening pulmonary fibrosis.

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