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Discromatosis universal hereditaria: reporte de un caso

Published on Feb 1, 2016in Piel
· DOI :10.1016/j.piel.2015.06.004
Víctor Pinos-León1
Estimated H-index: 1
,
Jennyfer Granizo-Rubio (Central University of Ecuador)
Abstract
  • References (13)
  • Citations (0)
References13
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Dyschromatosis universalis hereditaria is a rare genodermatosis characterized by hyper- and hypopigmented macules in a reticulate pattern. Here, we present a case of DUH with involvement of the palms.
2 CitationsSource
#1Caie Zhang (HUST: Huazhong University of Science and Technology)H-Index: 3
#2Duanzhuo Li (HUST: Huazhong University of Science and Technology)H-Index: 4
Last. Yunhua Deng (HUST: Huazhong University of Science and Technology)H-Index: 3
view all 22 authors...
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. ...
40 CitationsSource
#1Esha Bisne (Mahatma Gandhi Institute of Medical Sciences)H-Index: 1
#2Sonia Jain (Mahatma Gandhi Institute of Medical Sciences)H-Index: 3
Last. Vb Shivkumar (Mahatma Gandhi Institute of Medical Sciences)H-Index: 1
view all 3 authors...
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.
1 CitationsSource
#1Lejin Wang (PKU: Peking University)H-Index: 1
#2Fei He (Academy of Medical Sciences, United Kingdom)H-Index: 5
Last. Zhenglin Yang (Academy of Medical Sciences, United Kingdom)H-Index: 34
view all 25 authors...
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...
55 CitationsSource
#1C. Y. Wu (NDMC: National Defense Medical Center)H-Index: 1
#2W. H. Huang (NDMC: National Defense Medical Center)H-Index: 1
9 CitationsSource
#1M. Stuhrmann (MHH: Hannover Medical School)H-Index: 2
#2Hans Christian Hennies (University of Cologne)H-Index: 45
Last. E.H. El-Harith (MHH: Hannover Medical School)H-Index: 1
view all 12 authors...
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...
29 CitationsSource
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...
6 CitationsSource
#1Iqbal A. Bukhari (King Faisal University)H-Index: 9
Last. M. StuhrmannH-Index: 2
view all 3 authors...
18 CitationsSource
#1Ulrike A. Nuber (MPG: Max Planck Society)H-Index: 17
#2Sigrid Tinschert (MPG: Max Planck Society)H-Index: 34
Last. Ingrid Hauber (Heidelberg University)H-Index: 1
view all 4 authors...
We report a familial case of dyschromatosis universalis hereditaria (DUH) which is compatible with an autosomal dominant inheritance. The male proband from Bangladesh presented with randomly distributed hyper- and hypo-pigmented skin lesions of variable shape and size with a mottled appearance. Three additional members of the non-consangineous family are similarly affected. Light and electron microscopy show normal numbers of active melanocytes, but different amounts of fully melanized melanosom...
23 CitationsSource
#1Khalid Al HawsawiH-Index: 2
#2Khalid Al AboudH-Index: 2
Last. Daifullah Al Aboud (King Khalid University)H-Index: 1
view all 4 authors...
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.
33 CitationsSource
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