has material basis in germline mutation in FAM111B respiratory system disorder hereditary sclerosing poikiloderma with tendon and pulmonary involvement https://www.malacards.org/card/poikiloderma_hereditary_fibrosing_with_tendon_contractures_myopathy_and_pulmonary_fibrosis Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features. UMLS:C3810325 icd11.foundation:1585528459 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis MEDGEN:816655 POIKTMP POIKTMP syndrome MONDO:0014310 OMIM:615704 Orphanet:221043 hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis GARD:0013218 hereditary poikiloderma hereditary skin disorder