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The dyschromatoses

Michihiro Kono, MD, PhD
Section Editor
Jennifer L Hand, MD
Deputy Editor
Rosamaria Corona, MD, DSc


The dyschromatoses are a group of rare, inherited pigmentary disorders characterized by the development during infancy or childhood of numerous, irregular hyperpigmented and hypopigmented macules approximately 5 mm in diameter [1]. Dyschromatosis symmetrica hereditaria (DSH, MIM #127400) and dyschromatosis universalis hereditaria (DUH, DUH1 MIM #127500, DUH2 MIM #612715, DUH3 MIM #615402), which are the two most common dyschromatoses, were first reported and most commonly occur in Japan.

This topic will discuss the clinical manifestations, diagnosis, and treatment of DSH and DUH. Other congenital and inherited hyperpigmentation disorders and the acquired hyperpigmentation disorders are discussed separately. (See "Acquired hyperpigmentation disorders".)


Epidemiologic data on the inherited dyschromatoses are limited. The prevalence of dyschromatosis symmetrica hereditaria (DSH) in Japan is estimated to be approximately 1.5 per 100,000 [2]. The prevalence of dyschromatosis universalis hereditaria (DUH) is probably much lower than DSH prevalence. One study reported that approximately 1.9 and 0.3 per 100,000 dermatology consultations in Japan are related to DSH and DUH, respectively [3].


Dyschromatosis symmetrica hereditaria (DSH), also called reticulate acropigmentation of Dohi, is an autosomal dominant disorder characterized by a mixture of hypopigmented and hyperpigmented macules approximately 5 mm in diameter on the dorsa of the hands and feet (picture 1) and freckle-like macules on the face. First described by Toyama in 1910, DSH has been reported mainly in Japan and China [4,5]. However, Korean [6], Taiwanese [7], Thai [8], Indian [9], Turkish [10], European [11,12], and Hispanic [13] cases have also been reported.

Genetics — DSH (MIM#127400) is caused by mutations in the adenosine deaminase acting on RNA1 gene (ADAR1) at 1q21.3, which encodes the RNA editing enzyme [2]. DSH is inherited in an autosomal dominant manner with nearly complete penetrance but variable expressivity. Both familial and sporadic cases have been reported. More than 160 different mutations throughout ADAR1 have been described in patients with DSH. These mutations, including nonsense, missense, frameshift, and splice-site mutations, are thought to lead to ADAR1 haploinsufficiency. Biallelic mutations in ADAR1 cause Aicardi-Goutières syndrome 6 (AGS6, MIM #615010), a severe childhood autoimmune disease characterized by encephalitis and interferonopathy that mimics viral infection [14]. However, DSH is not a feature of AGS. There is a single report of a patient with DSH due to a compound heterozygous ADAR1 mutation and associated with severe neurologic symptoms and brain calcification [15].

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Literature review current through: Oct 2017. | This topic last updated: Oct 30, 2017.
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