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Dyschromatosis symmetrica hereditaria

Disease definition

A rare genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.

ORPHA:41

Classification level: Disorder
  • Synonym(s):
    • Acropigmentation of Dohi
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: L81.8
  • OMIM: 127400
  • UMLS: C0406775
  • MeSH: C535729
  • GARD: 334
  • MedDRA: -

Summary

Clinical description

The first manifestations of the disease generally appear during early childhood.

Etiology

A mutation has been identified in the double-stranded RNA-specific adenosine deaminase (ADAR) gene.

Genetic counseling

Transmission is autosomal dominant.

- Last update: June 2006

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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