Dyschromatosis Universalis Hereditaria 1 (DUH1)

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OMIM® 57 127500 OMIM Phenotypic Series 57 PS127500 MeSH 44 D010859

MedGen 41 C2675711 SNOMED-CT via HPO 68 263681008 UMLS 70 C2675711

OMIM® : ⁵⁷ Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013). The autosomal dominant SASH1-associated DUH1 phenotype is characterized by generalized lentigines accompanied by mottled hyper- and hypopigmentation (Zhang et al., 2017). DUH is distinct from dyschromatosis symmetrica hereditaria (DSH; 127400), which also occurs particularly in Japanese and Korean individuals, but shows a characteristic mixture of hyper- and hypopigmented macules limited largely to the dorsal aspects of the hands and feet (Suenaga, 1952). Gao et al. (2005) noted that lesions associated with DUH appear within the first year of life predominantly on the trunk, whereas the age of onset of DSH is approximately 6 years and lesions appear predominantly on the extremities. (127500) (Updated 20-May-2021)

MalaCards based summary : Dyschromatosis Universalis Hereditaria 1, also known as duh1, is related to dyschromatosis universalis hereditaria and dyschromatosis symmetrica hereditaria. An important gene associated with Dyschromatosis Universalis Hereditaria 1 is SASH1 (SAM And SH3 Domain Containing 1). Affiliated tissues include skin, and related phenotype is hyperpigmented/hypopigmented macules.

UniProtKB/Swiss-Prot : ⁷² Dyschromatosis universalis hereditaria 1: A form of dyschromatosis universalis, an autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications.

Clinical features from OMIM®:

127500 (Updated 20-May-2021)

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