hereditary sclerosing poikiloderma with tendon and pulmonary involvement
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.
MONDO:0005087
respiratory system disorder
is_a
MONDO:0016382
hereditary poikiloderma
is_a
MONDO:0100118
hereditary skin disorder
is_a
POIKTMP
related
POIKTMP syndrome
exact
hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
related
poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
related