DISEASE: Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
Entry
H01906 Disease
Name
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
Description
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a rare autosomal dominant disorder caused by mutations in FAM111B. Clinical manifestations are poikiloderma from early childhood and telangiectasia and pigmentary anomalies especially on the face and sun-exposed areas. Scalp hair, eyelashes, and eyebrows are typically sparse. Tendon contractures especially involve the ankles and feet and cause gait disturbance. The majority of affected individuals develop progressive weakness of the proximal and distal muscles of all four limbs. Pulmonary involvement are noted during the second decade of life, and progressive dyspnea and restrictive impairment of lung function were linked to pulmonary fibrosis. Other features are exocrine pancreatic insufficiency, liver impairment, hematologic abnormalities, relative short stature, and cataract.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
Genetic and developmental disorders affecting the skin
Genetic syndromes affecting the skin
EC10 Genetic syndromes with poikiloderma
H01906 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
