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Familial progressive hyper- and hypopigmentation

Disease definition

Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.

ORPHA:280628

Classification level: Disorder
  • Synonym(s):
    • FPHH
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: L81.8
  • OMIM: 145250
  • UMLS: C1840392
  • MeSH: -
  • GARD: -
  • MedDRA: -
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