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Hereditary sclerosing poikiloderma with tendon and pulmonary involvement

MONDO:0014310

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.

Also known as: POIKTMP syndrome, POIKTMP, hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis, hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome, poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement

12 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Respiratory system disorder (127) Skin disorder (123) Human disease (14) Hereditary skin disorder (5) Disease of genetic or genomic mechanism (2) Hereditary poikiloderma (1) Disease by body system or component (0) Disease by etiologic mechanism (0)
Trials to join now! 5 Not yet recruiting 3 Not yet finished but already full! 2 Completed 2
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