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Ultrastructural Investigations in an Autosomal Recessively Inherited Case of Dyschromatosis Universalis Hereditaria

Published on Jan 1, 2014in Acta Dermato-venereologica
· DOI :10.2340/00015555-2030
Aayush Gupta10
Estimated H-index: 10
,
Yugal K Sharma5
Estimated H-index: 5
+ 3 AuthorsArchana Singh7
Estimated H-index: 7
Cite
Abstract
© 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 hypoand hyperpigmented lesions with appearance in infancy or early childhood and progression until stagnation before adolescence (2). This division got highlighted recently by the detection of specific mutations in ADAR1/ DSRAD and ABCB6 genes in DSH and DUH, respectively (1, 3). First reported from Japan, DUH has subsequently been reported from several regions of the world as a generalised leucomelanoderma relatively sparing the face, palms and soles. It is usually transmitted in an autosomal dominant (AD) pattern with variable penetrance, with very few autosomal recessive (AR) and even sporadic cases reported (4, 5). In this study, we present ultrastructural findings in a case of DUH, with probable AR transmission.
  • References (13)
  • Citations (3)
Cite
References13
Newest
Vivek Tirunelveli Natarajan1
Estimated H-index: 1
(IRI: Industrial Research Institute),
Parul Ganju4
Estimated H-index: 4
+ 11 AuthorsHemanta Kumar Kar7
Estimated H-index: 7
(PGIMER: Post Graduate Institute of Medical Education and Research)
Cellular homeostasis is an outcome of complex interacting processes with nonlinear feedbacks that can span distinct spatial and temporal dimensions. Skin tanning is one such dynamic response that maintains genome integrity of epidermal cells. Although pathways underlying hyperpigmentation cascade are recognized, negative feedback regulatory loops that can dampen the activated melanogenesis process are not completely understood. In this study, we delineate a regulatory role of IFN-γ in skin pigme...
Published on Feb 3, 2014in PLOS ONE2.78
Hong-Hong Liu2
Estimated H-index: 2
,
Yi Li44
Estimated H-index: 44
(Genome Institute of Singapore)
+ 34 AuthorsJia Nee Foo24
Estimated H-index: 24
(Genome Institute of Singapore)
Background As a genetic disorder of abnormal pigmentation, the molecular basis of dyschromatosis universalis hereditaria (DUH) had remained unclear until recently when ABCB6 was reported as a causative gene of DUH. Methodology We performed genome-wide linkage scan using Illumina Human 660W-Quad BeadChip and exome sequencing analyses using Agilent SureSelect Human All Exon Kits in a multiplex Chinese DUH family to identify the pathogenic mutations and verified the candidate mutations using Sanger...
Published on Sep 1, 2013in Journal of Investigative Dermatology6.29
Caie Zhang3
Estimated H-index: 3
(HUST: Huazhong University of Science and Technology),
Duanzhuo Li4
Estimated H-index: 4
(HUST: 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. ...
Published on Dec 1, 2011in Dermatologica Sinica0.81
Yi-Ying Chin3
Estimated H-index: 3
(KMU: Kaohsiung Medical University),
Gwo-Shing Chen16
Estimated H-index: 16
(KMU: Kaohsiung Medical University)
+ 1 AuthorsCheng-Che E. Lan16
Estimated H-index: 16
(KMU: Kaohsiung Medical University)
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 fema...
Published on Dec 1, 2009in Clinical and Experimental Dermatology1.77
C. Y. Wu1
Estimated H-index: 1
(NDMC: National Defense Medical Center),
W. H. Huang1
Estimated H-index: 1
(NDMC: National Defense Medical Center)
Published on Jul 1, 2009in International Journal of Dermatology1.79
Sm Yusuf5
Estimated H-index: 5
,
Muhammad Sani Mijinyawa4
Estimated H-index: 4
+ 1 AuthorsAz Mohammed11
Estimated H-index: 11
Dyschromatosis universalis hereditaria (DUH) is a clinically heterogeneous disorder that shows generalized mottled pigmentation. It occurs most commonly in Japanese persons, with sporadic reports from South Africa, India, and Iraq. Histopathology reveals a variable degree of pigmentary incontinence. Although the precise etiology of this disorder is not yet known, the clinicopathological findings implicate an inherent abnormality of melanosomes or melanin processing. We describe a case in a young...
Published on Aug 1, 2007in Journal of The American Academy of Dermatology7.10
Yu-Hung Wu2
Estimated H-index: 2
(Mackay Memorial Hospital),
Yang-Chih Lin1
Estimated H-index: 1
(Mackay Memorial Hospital)
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...
Published on Sep 1, 2005in Clinical and Experimental Dermatology1.77
G. Wang7
Estimated H-index: 7
(Fourth Military Medical University),
C. Li9
Estimated H-index: 9
(Fourth Military Medical University)
+ 1 AuthorsYu Liu8
Estimated H-index: 8
(Fourth Military Medical University)
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...
Published on Mar 15, 2004in American Journal of Medical Genetics Part A2.20
Ulrike A. Nuber17
Estimated H-index: 17
(MPG: Max Planck Society),
Sigrid Tinschert33
Estimated H-index: 33
(MPG: Max Planck Society)
+ 1 AuthorsIngrid Hauber1
Estimated H-index: 1
(Heidelberg University)
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...
Cited By3
Newest
Published on Oct 1, 2017in British Journal of Dermatology6.71
Jian Zhang11
Estimated H-index: 11
(SJTU: Shanghai Jiao Tong University),
M. Li4
Estimated H-index: 4
(SJTU: Shanghai Jiao Tong University),
Zhirong Yao13
Estimated H-index: 13
(SJTU: Shanghai Jiao Tong University)
Summary Reticulate pigmentary disorders are a group of disorders characterized by hyper- and/or hypopigmented macules with varying sizes and amounts of pigment. Some of the disorders are heritable, such as Dowling-Degos disease, dyschromatosis universalis hereditaria, dyschromatosis symmetrica hereditaria, reticulate acropigmentation of Kitamura and X-linked reticulate pigmentary disorder. Although each condition possesses unique phenotypic characteristics and the prognosis for each is somewhat ...
Published on Jan 1, 2017
Thuy L. Phung17
Estimated H-index: 17
(BCM: Baylor College of Medicine),
Teresa S. Wright (UTHSC: University of Tennessee Health Science Center)+ 1 AuthorsBruce R. Smoller43
Estimated H-index: 43
(UR: University of Rochester)
Human variability is most strikingly defined by variations in skin and hair color. Skin pigmentation is primarily a result of melanocyte functioning. However, surrounding keratinocytes, extracellular matrix proteins and dermal fibroblasts also play a role in cutaneous homeostasis and the phenotypic demonstration of color.
Published on Oct 21, 2015in PLOS Pathogens6.46
Vijay Soni7
Estimated H-index: 7
(BITS: Birla Institute of Technology and Science),
Sandeep Upadhayay1
Estimated H-index: 1
+ 5 AuthorsVinay Kumar Nandicoori18
Estimated H-index: 18
M. tuberculosis N-acetyl-glucosamine-1-phosphate uridyltransferase (GlmUMtb) is a bi-functional enzyme engaged in the synthesis of two metabolic intermediates N-acetylglucosamine-1-phosphate (GlcNAc-1-P) and UDP-GlcNAc, catalyzed by the C- and N-terminal domains respectively. UDP-GlcNAc is a key metabolite essential for the synthesis of peptidoglycan, disaccharide linker, arabinogalactan and mycothiols. While glmUMtb was predicted to be an essential gene, till date the role of GlmUMtb in modulat...
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