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Familial progressive hyperpigmentation

Disease definition

Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.

ORPHA:79146

  • Synonym(s):
    • Melanosis diffusa congenita
    • Melanosis universalis hereditaria
    • Universal melanosis
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Infancy
  • ICD-10: L81.4
  • OMIM: 145250  614233
  • UMLS: C1835039  C1840392
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

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