Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients

Br J Dermatol. 2019 Oct;181(4):862-864. doi: 10.1111/bjd.17996. Epub 2019 Apr 10.
No abstract available

Publication types

  • Letter
  • Multicenter Study

MeSH terms

  • Adolescent
  • Adult
  • Atrophy / genetics
  • Atrophy / pathology
  • Cell Cycle Proteins / genetics*
  • Child
  • Child, Preschool
  • Contracture / genetics*
  • Erythema / genetics
  • Erythema / pathology
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Lymphedema / genetics
  • Lymphedema / pathology
  • Male
  • Middle Aged
  • Mutation
  • Pulmonary Fibrosis / genetics*
  • Retrospective Studies
  • Sclerosis / complications*
  • Sclerosis / genetics
  • Sclerosis / pathology
  • Skin / pathology
  • Skin Abnormalities / complications*
  • Skin Abnormalities / genetics
  • Skin Abnormalities / pathology
  • Skin Diseases, Genetic / complications*
  • Skin Diseases, Genetic / genetics
  • Skin Diseases, Genetic / pathology
  • Tendons / pathology*
  • Young Adult

Substances

  • Cell Cycle Proteins
  • FAM111B protein, human

Supplementary concepts

  • Poikiloderma, Hereditary Sclerosing