A case of dyschromatosis universalis hereditaria is reported in a 16-year-girl. She had asymptomatic spotty, depigmented and hyperpigmented macules distributed bilaterally all over the body, sparing the palms and soles. She also had associated grandmal epilepsy since early childhood. The common origin of epidermis and brain from ectoderm suggests that the association of epilepsy and dyschromatosis universalis hereditaria in this patient is more than fortuitous.
(Mahatma Gandhi Institute of Medical Sciences), Sonia Jain3
Estimated H-index: 3
(Mahatma Gandhi Institute of Medical Sciences), Vb Shivkumar1
Estimated H-index: 1
(Mahatma Gandhi Institute of Medical Sciences)
Dyschromatosis universalis hereditaria is an autosomal dominant disorder but may be recessive or sporadically inherited disorder, infrequently occurring genodermatosis with peculiar pigmentary changes, consisting of varying sized, intermingled hyperpigmented and hypopigmented macules that give an overall impression of mottling. Herein, we report this extremely rare case of dyschromatosis universalis hereditaria in a young male with a family history of the same disorder in his younger brother.
To the Editor.— Dyschromatosis universalis hereditaria (DUH) is a congenital dyschromatosis that usually shows autosomal dominant inheritance. 1 Dyschromatosis universalis hereditaria shows diffuse mottled hyperpigmentation and hypopigmentation in otherwise healthy patients. 1-4 We observed a middle-aged woman whose clinical features were similar to DUH, but whose histologic picture showed abnormally melanin-laden melanocytes in the basal cell layer. Moreover, she was photosensitive to both ultr...
Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria (DSH) are pigmentary dermatoses most commonly seen in Japan. Both disorders usually show autosomal dominant inheritance, although in some cases autosomal recessive inheritance was reported. DSH was mapped to chromosome 1q21.3, and mutations in the gene ADAR (DSRAD) were identified in Japanese, Chinese and Taiwanese families with autosomal dominant DSH. A second locus for dyschromatosis was mapped on chromosome...
Abstract: We describe dyschromatosis universalis in a 19-month-old Saudi Arabian girl. She had no associated defects and none of the other family members were affected. Similar cases reported from countries other than the Far East, where the disease was first described, are discussed.
Tuberous sclerosis is an autosomal dominant disease due to mutations in two genetic loci, characterized by hamartoma formation in the skin, nervous system, heart, kidney, and other organs. Dyschromatosis universalis hereditaria is an autosomal dominant genodermatosis, characterized by small hyperpigmented and hypopigmented macules, uniformly distributed over the entire body. The face is rarely involved, and the palms, soles, and mucous membranes are usually spared. We report a case of tuberous s...
(Academy of Medical Sciences, United Kingdom)+ 22 AuthorsYi Shi14
Estimated H-index: 14
(Academy of Medical Sciences, United Kingdom)
Ocular coloboma is a developmental defect of the eye and is due to abnormal or incomplete closure of the optic fissure. This disorder displays genetic and clinical heterogeneity. Using a positional cloning approach, we identified a mutation in the ATP-binding cassette (ABC) transporter ABCB6 in a Chinese family affected by autosomal-dominant coloboma. The Leu811Val mutation was identified in seven affected members of the family and was absent in six unaffected members from three generations. A L...
(Huazhong University of Science and Technology), Duanzhuo Li5
Estimated H-index: 5
(Huazhong University of Science and Technology)+ 19 AuthorsQingyan Zhang2
Estimated H-index: 2
Dyschromatosis universalis hereditaria (DUH) is a pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body. No causative genes have been reported to date. In this study, we investigated a large five-generation Chinese family with DUH. After excluding the two known DUH loci, we performed genome-wide linkage analysis and identified a DUH locus on chromosome 2q33.3-q36.1 with a maximum LOD score of 3.49 with marker D2S2382. ...