Dyschromatosis universalis hereditaria: an infrequently occurring entity in Europe

Krishnan, Ajay; Kar, Sumit

doi:10.3315/jdcr.2012.1111

Cited by 9 publications

(8 citation statements)

References 5 publications

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“…Although DUH has been linked with short stature, dental abnormalities, photosensitivity, deafness and cataracts, extracutaneous abnormalities have not previously been reported with FPHH, apart from one case with short stature and developmental delay . The skin thickening with age and the sparse lateral eyebrows noted in our patients have not been reported previously in FPHH.…”

Section: Discussioncontrasting

confidence: 40%

Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations inKITLG

et al. 2015

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Section: Discussioncontrasting

confidence: 40%

Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations inKITLG

et al. 2015

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“…The prevalence of DUH is 0.3 per 100,000 with a female preponderance 5,6,8 . The skin lesions usually appear in infancy or early childhood 1 .…”

Section: Epidemiologymentioning

confidence: 99%

Dyschromatosis universalis hereditaria

Murthy,

Palaniappan,

Karthikeyan

et al. 2023

Int J Dermatology

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Reticulate pigmentary dyschromatoses primarily include dyschromatosis universalis hereditaria (DUH), dyschromatosis symmetrica hereditaria (DSH) (Reticulate acropigmentation of Dohi), and unilateral dermatomal pigmentary dermatosis, which differ in their patterns of distribution. The disease was initially described by Ichikawa and Hiraga in Germany in 1933. The prevalence of DUH is 0.3 per 100,000 with a female preponderance. The skin lesions usually appear in infancy or early childhood and cease to progress beyond adolescence. The subtypes DUH 1 and DUH 3 are found to have autosomal dominant inheritance, which is the most common inheritance pattern, while DUH 2 has an autosomal recessive pattern. The most common gene involved in DUH is ABCB6, while the other genes include SASH 1, PER 3, and KITLG (DUH type 2). DUH is characterized by multiple irregular hyperpigmented macules interspersed with hypopigmented macules in a mottled pattern over the trunk and extremities. The face is involved in 50% of individuals. Rarely, it can also involve hairs, nails, mucous membranes, palms, and soles. Other varied presentations include localized forms, localization of lesions to sun‐exposed areas, large macules, uniform palmar hypopigmentation, diffuse hyperpigmentation with spotty depigmented macules, and unilateral involvement. DUH has been reported to be associated with various cutaneous and systemic diseases. The authors have observed cases of DUH associated with hepatocellular carcinoma, solitary keratoacanthoma, and dermoid cyst. The various diagnostic modalities include dermoscopy, histopathology, electron microscopy, and targeted gene sequencing. Though various treatment modalities like NBUVB and lasers have been tried, no treatment is promising.

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“…69). Facial lesions were seen in almost 50% of affected individuals, but involvement of palms and soles is unusual (Merino de Paz et al 2012). It may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications including neurosensory hearing defect, high-tone deafness, small stature, and X-linked ocular albinism (Sardar et al 2016;Yadalla et al 2013).…”

Section: Pigmentary Disordermentioning

confidence: 99%