Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis - INRAE - Institut national de recherche pour l’agriculture, l’alimentation et l’environnement Access content directly
Book Sections Year : 2016

Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis

Margaret P
  • Function : Author
David B Everman
  • Function : Author
Ghayda M. Mirzaa
  • Function : Author
Roberta Pagon
  • Function : Author
Stephanie Wallace
  • Function : Author
Lora Jh
  • Function : Author
Lora Jh
  • Function : Author
Karen W Gripp
  • Function : Author
Anne Amemiya
  • Function : Author

Abstract

Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is characterized by the skin findings of poikiloderma (typically beginning in the first six months and mainly localized to the face), hypohidrosis with heat intolerance, mild lymphedema of the extremities, chronic erythematous and scaly skin lesions on the extremities, sclerosis of the digits, and mild palmoplantar keratoderma. Scalp hair, eyelashes, and/or eyebrows are typically sparse. Muscle contractures are usually seen in childhood and can be present as early as age two years. The majority of affected individuals develop progressive weakness of the proximal and distal muscles of all four limbs. Some adults develop progressive interstitial pulmonary fibrosis, which can be life threatening within three to four years after respiratory symptoms appear. Other features are exocrine pancreatic insufficiency, liver impairment, hematologic abnormalities, relative short stature, and cataract.
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Dates and versions

hal-03831152 , version 1 (26-10-2022)

Identifiers

  • HAL Id : hal-03831152 , version 1
  • PUBMED : 27748098

Cite

Sandra Mercier, Sébastien Küry, Sébastien Barbarot, Margaret P, David B Everman, et al.. Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis. GeneReviews, pp.1-17, 2016. ⟨hal-03831152⟩
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