Dyschromatosis universalis hereditariaQ82.86

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 15.02.2023

Dieser Artikel auf Deutsch

Synonym(s)

DUH; Dyschromatosis universalis hereditaria; Melanosis diffuse neurocutaneous; OMIM 127500

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

HistoryThis section has been translated automatically.

Van Bogaert, 1948; Suenaga, 1952; Ichikawa and Hiraya, 1933;

DefinitionThis section has been translated automatically.

Rare, autosomal dominant inherited genodermatosis with diffuse hyperpigmentationg and spotty, speckled depigmentation of the entire integument without further organ symptoms (neurological disorders are described in a single case). Erroneously sometimes also called diffuse neurocutaneous melanosis.

Occurrence/EpidemiologyThis section has been translated automatically.

Mainly occurring in the Japanese population. Also described in Arab countries.

EtiopathogenesisThis section has been translated automatically.

Several mutations in the ABCB6 gene (ABCB6=ATB-binding cassette subfamily B, member 6) located on chromosome 6q24.2-q25.2 are described (Zhong W et al. 2019). ABCB6 mutations cause changes in the Golgi apparatus of melanocytes, which affects melanosome formation and melanosome transport. Another autosomal recessive inherited phenotypically largely identical but different genotype (OMIM 612715: chromsome 12q21.q23) has been described.

LocalizationThis section has been translated automatically.

The whole Integument.

Clinical featuresThis section has been translated automatically.

Uniform dirty-grey-brown hyperpigmentation, spot-like depigmentation in the area of large skin folds, the axillae and the inguinal region. Follicular hyperkeratoses on the extensor sides of the extremities (Sardar SK et al. 2016). Leukonychie, koilonychie, thin hair.

HistologyThis section has been translated automatically.

Increased melanin granules in the keratinocytes of the epidermis, pigment incontinence.

Differential diagnosisThis section has been translated automatically.

TherapyThis section has been translated automatically.

A causal therapy is not yet known. In case of cosmetic impairment brightening by antioxidants (e.g. vitamin C) or topically applied retinoids (e.g. isotretinoin; isotrex gel).

Progression/forecastThis section has been translated automatically.

Brightening with age.

LiteratureThis section has been translated automatically.

  1. Al Hawsawi K et al (2002) Dyschromatosis universalis hereditaria: report of a case and review of the literature. Pediatr Dermatol 19: 523-526
  2. Elser I et al (2003) Dyschromatosis universalis hereditaria. An unusually rare clinical picture. Dermatol. 54: 368-370
  3. Sardar SK et al. (2016) Dyschromatosis universalis hereditaria: report of six cases from a family. Dermatol Online J 22(9).
  4. Sethuraman G et al (2000) Dyschromatosis universalis hereditaria: a unique disorder. Pediatr Dermatol 17: 70-72.
  5. Suenaga M (1952) Genetical studies on skin diseases. VII. dyschromatosis universalis hereditaria in five generations. Tohoku J Exp Med 55: 373-376
  6. Van Bogaert LC (1948) La mélanose neurocutanée diffuse hérédofamiliale. Bull Acad R Med Belg 3: 397-427.
  7. Zhong W et al (2019) Atypical presentation of dyschromatosis universalis hereditaria with a novel ABCB6 mutation.Clin Exp Dermatol 44:e58-e60.
  8. OMIM 127500

Authors

Last updated on: 15.02.2023