hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis is a rare genetic syndrome characterised by poikiloderma, tendon contractures and progressive pulmonary fibrosis. it is also known as poiktmp syndrome. hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosisrosah syndrome is inherited via an autosomal dominant mannercausesmutation in fam111b gene presentation the main characteristics of this condition are poikiloderma, tendon contractures and progressive pulmonary fibrosis. other features include skin facial telangiectasia mottled hypo- and hyperpigmentation papules epidermal atrophy scanty hair tendon contractures affecting the digits ankles other exocrine pancreatic insufficiency liver impairment growth retardation magnetic resonance imaging shows muscle atrophy and fatty infiltration of the muscles. muscle biopsy shows fibrosis and fatty infiltration. skin biopsy shows fibrosis and alterations of the elastic network. genetics this condition is caused by mutations in the (fam111b) gene. this gene is located on the long arm of chromosome 11 (11q12.1). the inheritance of this condition is autosomal dominant. diagnosis this diagnosis is made by sequencing the fam111b gene. differential diagnosis poikiloderma of weary management there is presently no curative treatment. management is supportive. epidemiology the prevalence is not known but this is considered to be a rare disease. about fifty cases have bene described in the literature up to 2019. history this condition was first described in 2006.