Orphanet: Dyschromatosis symmetrica hereditaria
x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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

Health care 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.