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Poikiloderma with neutropenia

Disease definition

Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

ORPHA:221046

  • Synonym(s):
    • Poikiloderma with neutropenia, Clericuzio type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: D82.8
  • OMIM: 604173
  • UMLS: C1858723
  • MeSH: -
  • GARD: 4085
  • MedDRA: -

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