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Hereditary sclerosing poikiloderma, Weary type

Disease definition

A rare genetic skin disease characterized by generalized poikiloderma with marked accentuation in flexural regions and on extensor surfaces, sclerosis of palms and soles, and linear and reticulated hyperkeratotic and sclerotic bands in the axilla and the antecubital and popliteal fossae. Subcutaneous calcification, finger clubbing, Raynaud phenomenon, and cardiac abnormalities (such as severe aortic stenosis) have also been reported.

ORPHA:221039

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Childhood
  • ICD-10: Q82.8
  • ICD-11: EC10
  • OMIM: 173700
  • UMLS: C5680890
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.