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References OMIM Gene GeneReviews HGMD HGNC
last update : 14-01-2014
Symbol FPTCM
Location 11q12.1
Name hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis
Corresponding gene FAM111B
Main clinical features
  • mottled pigmentation, telangiectasia, and epidermal atrophy, tendon contractures, and progressive pulmonary fibrosis
  • poikiloderma from early childhood and telangiectasia and pigmentary anomalies especially on the face and sun-exposed areas
  • tendon contractures especially involved the ankles and feet and caused gait disturbance, and progressive dyspnea and restrictive impairment of lung function linked to pulmonary fibrosis
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease