Dyschromatosis universalis hereditaria Q82.86

Author: Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 15.02.2023

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Synonym(s)

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

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

Definition
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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.

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Occurrence/Epidemiology
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Mainly occurring in the Japanese population. Also described in Arab countries.

Etiopathogenesis
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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.

Localization
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The whole Integument.

Clinical features
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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.

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

Differential diagnosis
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M. Addison; M. Gaucher; Niemann-Pick disease; ACTH- or MSH-producing thymus tumors; erythema dyschromicum perstans; xeroderma pigmentosum.

Therapy
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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/forecast
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Brightening with age.

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