Match!

Dyschromatosis universalis hereditaria: a familial case with ultrastructural skin investigation

Published on Dec 1, 2011in Dermatologica Sinica0.808
· DOI :10.1016/j.dsi.2011.09.006
Yi-Ying Chin3
Estimated H-index: 3
(KMU: Kaohsiung Medical University),
Gwo-Shing Chen25
Estimated H-index: 25
(KMU: Kaohsiung Medical University)
+ 1 AuthorsCheng-Che E. Lan21
Estimated H-index: 21
(KMU: Kaohsiung Medical University)
Abstract
Dyschromatosis universalis hereditaria (DUH) is a rare disease that is inherited both in autosomal dominant and autosomal recessive patterns. It is characterized by appearance of pinpoint to pea-sized hypo- and hyper-pigmented macules distributed in a reticulated pattern over the trunk and limbs within the first few years of life. Although the pathogenesis is still not clear, some authors proposed that decreased melanosome synthesis rate may underlie this disorder. We describe a 56-year-old female and her 24-year-old son with generalized symmetrically distributed hypo- and hyper-pigmented macules. After clinical, histological and ultrastructural examination, we proposed defect in melanosome transfer from melanocytes to keratinocytes may underlie the pathogenesis of DUH.
  • References (19)
  • Citations (3)
📖 Papers frequently viewed together
23 Citations
1 Citations
1 Citations
78% of Scinapse members use related papers. After signing in, all features are FREE.
References19
Newest
#1C. Y. Wu (NDMC: National Defense Medical Center)H-Index: 1
#2W. H. Huang (NDMC: National Defense Medical Center)H-Index: 1
9 CitationsSource
#1Sm YusufH-Index: 5
Last. Az MohammedH-Index: 12
view all 4 authors...
5 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
#1N. KenaniH-Index: 5
#2Najet GharianiH-Index: 8
Last. Rafiaa NouiraH-Index: 10
view all 6 authors...
8 Citations
#1Yu-Hung Wu (Mackay Memorial Hospital)H-Index: 11
#2Yang-Chih Lin (Mackay Memorial Hospital)H-Index: 9
Background Dowling-Degos disease (DDD) is a rare inherited disease characterized by reticular hyperpigmentation on flexor surfaces. Objective We sought to describe several cases of generalized DDD, a presentation that resemble dyschromatosis universalis hereditaria. Methods The clinical manifestations, histopathologic, and genetic studies of a family with autosomal dominant inheritance were analyzed. Results The father and his sister had reticular hyperpigmentation on flexor surfaces, whereas th...
48 CitationsSource
Autosomal recessive cutaneous disorders, including various types of epidermolysis bullosa (EB), usually manifest shortly after birth. The clinical course of these diseases is often characterized by severe complications, limited therapeutic options, and a poor prognosis. A study by Pasmooij et al. reported in this issue of the JCI unravels the molecular mechanisms by which germline mutations in non-Herlitz junctional EB can be corrected in vivo by multiple spontaneously occurring somatic mutation...
22 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
#1Gang Wang (Fourth Military Medical University)H-Index: 23
#2C. Li (Fourth Military Medical University)H-Index: 9
Last. Yufeng Liu (Fourth Military Medical University)H-Index: 16
view all 4 authors...
Summary Two cases of dyschromatosis universalis hereditaria (DUH) from a Chinese family are presented. Case 1 was a 62-year-old woman who had a generalized and progressive hyper- and hypopigmentation of the skin from the age of 8 years. Her brother had also developed a similar skin pigmentary defect from about the same age. Histopathological and ultrastructural examination of lesional skin showed increased melanin content in epidermal keratinocytes but no changes in the appearance or number of m...
11 CitationsSource
#1Noboru Suzuki (Nagoya University)H-Index: 21
#2Tamio Suzuki (Nagoya University)H-Index: 24
Last. Yasushi Tomita (Nagoya University)H-Index: 10
view all 18 authors...
Dyschromatosis symmetrica hereditaria (DSH) (also called "reticulate acropigmentation of Dohi") is a pigmentary genodermatosis of autosomal dominant inheritance. We have clarified for the first time four pathological mutations of the double-stranded RNA-specific adenosine deaminase gene (ADAR1 or DSRAD) in four DSH pedigrees. In this paper, we report 16 novel mutations containing six missense substitutions (p.V906F, p.K1003R, p.G1007R, p.C1036S, p.S1064F, p.R1078C), two splice site mutations (IV...
60 CitationsSource
Cited By3
Newest
#1Ptissam Bergam (Curie Institute)H-Index: 4
Last. Guillaume van NielH-Index: 25
view all 7 authors...
Genetically inheritable pigmentation defects provide a unique opportunity to reveal the function of proteins contributing to melanogenesis. Dyschromatosis universalis hereditaria (DUH) is a rare pigmentary genodermatosis associated with mutations in the ABCB6 gene. Here we use optical and electron microscopy imaging combined with biochemical tools to investigate the localization and function of ABCB6 in pigment cells. We show that ABCB6 localizes to the membrane of early melanosomes and lysosome...
3 CitationsSource
#1Aayush GuptaH-Index: 11
#2Yugal K SharmaH-Index: 5
Last. Archana SinghH-Index: 57
view all 6 authors...
© 2015 The Authors. doi: 10.2340/00015555-2030 Journal Compilation © 2015 Acta Dermato-Venereologica. ISSN 0001-5555 The dyschromatoses are a group of rare genodermatoses characterised by the presence of asymptomatic mottled hyperpigmented macules admixed with variably sized hypopigmented macules (1). Dyschromatoses are divided into dyschromatosis symmetrica hereditaria (DSH) and dyschromatosis universalis hereditaria (DUH). DUH is clinically diagnosed on the basis of widely distributed small hy...
3 CitationsSource
#1Amy Chia Ying Peng (NCKU: National Cheng Kung University)H-Index: 2
#2Yi An Chen (NCKU: National Cheng Kung University)H-Index: 1
Last. Sheau-Chiou Chao (NCKU: National Cheng Kung University)H-Index: 15
view all 3 authors...
Abstract Background/Objective Dyschromatosis symmetrica hereditaria (DSH) is a rare pigmentary genodermatosis characterized by hyper- and hypopigmented macules on the face and dorsal aspects of the extremities. This study aimed to delineate the unique clinical, histological, and genetic features of DSH in a Taiwanese population. Methods A retrospective review of clinical charts and archival photographs was performed for patients diagnosed with DSH in a medical center in Taiwan between 1992 and 2...
3 CitationsSource