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  • References (9)
  • Citations (8)
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References9
Newest
Published on May 7, 2008in Clinical Genetics 4.10
M. Stuhrmann2
Estimated H-index: 2
(MHH: Hannover Medical School),
Hans Christian Hennies37
Estimated H-index: 37
(University of Cologne)
+ 9 AuthorsS. Knothe1
Estimated H-index: 1
(MHH: Hannover Medical School)
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...
Published on Aug 1, 2007in Journal of The American Academy of Dermatology 7.10
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 Dermatology 1.77
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 A 2.20
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...
Published on Sep 1, 2003in American Journal of Human Genetics 9.92
Yoshinori Miyamura10
Estimated H-index: 10
(Nagoya University),
Tamio Suzuki24
Estimated H-index: 24
(Nagoya University)
+ 4 AuthorsYasushi Tomita33
Estimated H-index: 33
(Nagoya University)
Dyschromatosis symmetrica hereditaria (DSH) (also called “reticulate acropigmentation of Dohi”) is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. To determine the gene responsible for this disease, we performed a genomewide search in three families with DSH and mapped the DSH locus to chromosome 1q21.3. The mutations involved in causing DSH have been iden...
Published on Aug 1, 2003in American Journal of Human Genetics 9.92
Qinghe Xing26
Estimated H-index: 26
(CAS: Chinese Academy of Sciences),
Xiangdong Chen3
Estimated H-index: 3
+ 8 AuthorsMingtai Wang4
Estimated H-index: 4
(Zhengzhou University)
Dyschromatosis symmetrica hereditaria (DSH) is a hereditary skin disease characterized by the presence of hyperpigmented and hypopigmented macules on extremities and face. The gene, or even its chromosomal location, for DSH has not yet been identified. In this study, two Chinese families with DSH were identified and subjected to a genomewide screen for linkage analysis. Two-point linkage analysis for pedigree A (maximum LOD score [Zmax] = 7.28 at recombination fraction [θ] = 0.00) and pedigree B...
Published on May 1, 2003in Journal of Investigative Dermatology 6.29
X. Zhang67
Estimated H-index: 67
(Anhui Medical University),
Min Gao24
Estimated H-index: 24
(Anhui Medical University)
+ 9 AuthorsWen-Tao Yuan11
Estimated H-index: 11
(Chinese National Human Genome Center)
Dyschromatosis symmetrica hereditaria is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the face and the dorsal aspects of the extremities. The genetic basis for this disease is unknown. We performed a genome-wide search in two large Chinese families to map the chromosome location of the responsible gene. We identified a locus at chromosome 1q11–1q21 with a cumulative maximum two-point LOD score of 8.85 at m...
Published on Nov 1, 2002in Pediatric Dermatology 1.18
Khalid Al Hawsawi2
Estimated H-index: 2
,
Khalid Al Aboud2
Estimated H-index: 2
+ 1 AuthorsDaifullah Al Aboud1
Estimated H-index: 1
(King Khalid University)
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.
Published on Sep 1, 2002in Clinical and Experimental Dermatology 1.77
G Sethuraman4
Estimated H-index: 4
,
Mariette D'Souza7
Estimated H-index: 7
+ 2 AuthorsSmiles L2
Estimated H-index: 2
(PSG Institute of Medical Sciences and Research)
Summary Dyschromatosis universalis hereditaria is a clinically heterogenous disorder. We report two unrelated Indian patients with dyschromatosis universalis hereditaria, who had generalized and progressive reticulate hyper- and hypo-pigmentation of the skin. The oral mucosa and tongue also showed mottled pigmentation. Intriguingly, the palms and soles were also affected with a diffuse hyper-pigmentation interspersed with spotty de-pigmented macules. Dystrophic nail changes with pterygium format...
Cited By8
Newest
Published on Feb 1, 2016in Piel
Víctor Pinos-León1
Estimated H-index: 1
,
Jennyfer Granizo-Rubio (Central University of Ecuador)
Published on Jan 1, 2016in Dermatology Online Journal
Swapan Sardar1
Estimated H-index: 1
,
Anupam Das4
Estimated H-index: 4
,
Debabrata Bandyopadhyay9
Estimated H-index: 9
Dyschromatosis universalis hereditaria (DUH) is a rare pigmentary disorder characterized by the presence of mottled hyperpigmented and hypopigmented macules over the trunk, extremities, and face. We have presented a case series comprised of six members of a family who had numerous hyperpigmented and hypopigmented macules distributed all over the body. Histological findings were suggestive of dyschromatosis universalis hereditaria.
Published on Apr 1, 2015in Case Reports in Dermatology
Salinee Rojhirunsakool1
Estimated H-index: 1
,
Vasanop Vachiramon9
Estimated H-index: 9
Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant inherited dermatosis which usually appears during childhood and is characterized by dyspigmentation, with both hypopigmented and hyperpigmented macules. We report a case of DUH with unexplained childhood-onset renal failure. The association between DUH and renal failure is yet to be proven by further studies.
Published on Jan 1, 2014in Acta Dermato-venereologica
Aayush Gupta10
Estimated H-index: 10
,
Yugal K Sharma5
Estimated H-index: 5
+ 3 AuthorsArchana Singh7
Estimated H-index: 7
© 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...
Published on Mar 1, 2013in Dermatologica Sinica 0.81
Amy Chia Ying Peng2
Estimated H-index: 2
(NCKU: National Cheng Kung University),
Yi An Chen1
Estimated H-index: 1
(NCKU: National Cheng Kung University),
Sheau-Chiou Chao14
Estimated H-index: 14
(NCKU: National Cheng Kung University)
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...
Published on Jan 1, 2012in Dermatology 2.50
Andreas Arnold15
Estimated H-index: 15
(University Medical Center Freiburg),
Johannes S. Kern17
Estimated H-index: 17
(University Medical Center Freiburg)
+ 3 AuthorsCristina Has28
Estimated H-index: 28
(University Medical Center Freiburg)
We describe an otherwise healthy 7-year-old boy who developed confetti-like hypopigmented macules on the dorsal aspects of the hands and feet, spreading to the palms and soles a few months after birth. In 1964 Siemens introduced the term acromelanosis albo-punctata to describe the skin features of a patient who has remained the only reported case in the literature so far and who strongly resembles our patient. By genetic testing we excluded mutations in genes known to be involved in diseases wit...
Published on Dec 1, 2011in BMC Dermatology
Wenlin Yang1
Estimated H-index: 1
(Guangzhou Medical University),
Yangyang Lin1
Estimated H-index: 1
(Guangzhou Medical University)
+ 1 AuthorsWensheng Lin1
Estimated H-index: 1
(Guangzhou Medical University)
Background Cutaneous amyloidosis has been classified into primary cutaneous amyloidosis (PCA, OMIM #105250), secondary cutaneous amyloidosis and systemic cutaneous amyloidosis. PCA is the deposition of amyloid in previously apparent normal skin without systemic involvement. Amyloidosis cutis dyschromica (ACD) is a rare distinct type of PCA. Here, the unique clinical and histological findings of two Chinese female siblings with ACD were described.
Published on Dec 1, 2011in Dermatologica Sinica 0.81
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...
Mohammad Ali El-Darouti7
Estimated H-index: 7
(Cairo University),
Faiza M. Al-Ali1
Estimated H-index: 1
(Dubai Health Authority)
A boy exhibited early onset of generalized mottled pigmentation affecting the whole body, with reticular pattern and normal hair color. Histology and immunohistochemistry confirmed the diagnosis of an extremely rare metabolic disorder.