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Generalized Dowling-Degos disease

Published on Aug 1, 2007in Journal of The American Academy of Dermatology7.102
· DOI :10.1016/j.jaad.2006.12.023
Yu-Hung Wu11
Estimated H-index: 11
(Mackay Memorial Hospital),
Yang-Chih Lin9
Estimated H-index: 9
(Mackay Memorial Hospital)
Abstract
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 the daughter and son had generalized hyperpigmentation with numerous hypopigmented or erythematous macules and papules on the trunk and limbs. Skin biopsy specimens from both types of lesions all had typical features of DDD. Biopsy specimens from axillary skin had features of Galli-Galli disease, an acantholytic form. There were no mutations of the double-stranded RNA-specific adenosine deaminase or keratin 5 genes. Limitation Generalizations cannot be drawn from genetic study of only one family. Conclusion DDD can present with generalized hyperpigmentation and hypopigmented papules.
  • References (32)
  • Citations (48)
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References32
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#1Alfredo Rebora (UniGe: University of Genoa)H-Index: 41
#2Franco CrovatoH-Index: 15
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#1Cheng-Rang Li (Nanjing Medical University)H-Index: 1
#2Qinghe Xing (SJTU: Shanghai Jiao Tong University)H-Index: 27
Last. Lin He (SJTU: Shanghai Jiao Tong University)H-Index: 57
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Reticulate pigmented anomaly of the flexures (RPAF), also called Dowling–Degos disease, is a rare autosomal-dominant cutaneous disorder characterized by spotted and reticulate pigmentation of the flexures. The gene, or even the chromosomal location, for RPAF has not yet been identified. In this study, one Chinese family with RPAF was identified and subjected to a genomewide screen for linkage analysis. We identified a locus at chromosome 17p13.3 with a maximum two-point limit of detection score ...
26 CitationsSource
#1Regina C. BetzH-Index: 28
#2Laura PlankoH-Index: 3
Last. Rudolf Kruse (HHU: University of Düsseldorf)H-Index: 78
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Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation of the flexures. We performed a genomewide linkage analysis of two German families and mapped DDD to chromosome 12q, with a total LOD score of 4.42 (θ=0.0) for marker D12S368. This region includes the keratin gene cluster, which we screened for mutations. We identified loss-of-function mutations in the keratin 5 gene (KRT5) in all affected family members a...
166 CitationsSource
#1S‐C. Chao (NCKU: National Cheng Kung University)H-Index: 8
#2Jun-Young Lee (NCKU: National Cheng Kung University)H-Index: 24
Last. M‐H. Yang (NCKU: National Cheng Kung University)H-Index: 3
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#1Sun XkH-Index: 1
#2Xu AeH-Index: 1
Last. Tang XH-Index: 1
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Summary Background Dyschromatosis symmetrica hereditaria (DSH, MIM 127400) is an autosomal dominant pigmentary genodermatosis. Pathogenic mutations in the double-RNA-specific adenosine deaminase (DSRAD) gene encoding an RNA editing enzyme have recently been identified. Objectives To identify gene mutations of DSRAD in Chinese patients with DSH. Methods Three unrelated Chinese patients with DSH were subjected to mutation detection in DSRAD. Two had family histories of DSH. All the coding exons an...
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#1Noboru Suzuki (Nagoya University)H-Index: 21
#2Tamio Suzuki (Nagoya University)H-Index: 24
Last. Yasushi Tomita (Nagoya University)H-Index: 10
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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...
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#1Yong Cui (Wannan Medical College)H-Index: 27
#2Jun Wang (Wannan Medical College)H-Index: 1
Last. X. Y. Zhang (Anhui Medical University)H-Index: 71
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Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant skin disorder characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the face and dorsal aspects of the extremities that appear in infancy or early childhood. The DSH locus has recently been mapped to chromosome 1q21 and then pathogenic mutations have been identified in the DSRAD gene. In the study reported here we examined the DSRAD gene mutations of a three-generation Chinese pedigree with DSH b...
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Dowling‐Degos disease is a rare autosomal dominant inherited pigmentary disorder characterized by reticulate pigmentation of the flexures, prominent comedone like lesions and pitted scars. Dyschromatosis universalis hereditaria is characterized by the presence of hypopigmented as well as hyperpigmented macules. We report a family showing features of both these diseases.
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#1X. Y. Zhang (Anhui Medical University)H-Index: 71
#2Ping-Ping He (Anhui Medical University)H-Index: 14
Last. Wei Huang (Chinese National Human Genome Center)H-Index: 13
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Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterized by hyperpigmented and hypopigmented macules of on the extremities and caused by the mutations in the ADAR gene(also called DSRAD) encoding for RNA-specific adenosine deaminase. Here we reported clinical and molecular findings of 6 Chinese multi-generation families and 2 sporadic patients with DSH. We found that the same mutation could lead to different phenotypes even in the same family a...
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#1Ping-Ping He (Anhui Medical University)H-Index: 14
#2Chundi He (PRC: China Medical University (PRC))H-Index: 3
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Summary Background Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterized by hyperpigmented and hypopigmented macules on the extremities, which has recently been mapped to an 11·6-cM interval on chromosome 1q11–21. So far, most cases of DSH have been reported in Japan and dermatologists around the world might think this disorder mainly occurs in Japan. In fact, there are 17 DSH families including 136 cases reported in China since 1980, but mo...
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: Dowling-Degos disease (DDD) is a rare autosomal-dominant genodermatosis with limited treatment possibilities. Although the efficacy of ablative laser therapy has been reported, we sought to examine the efficacy of fractional versus full ablative laser therapy in a female patient with DDD in a split-side report. We treated the lesions on the right side of the patient's upper abdomen with an ablative fractional CO2 laser and the lesions on the left side of the upper abdomen with a full ablative ...
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#1Wanting Yu (Academy of Medical Sciences, United Kingdom)
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Dowling–Degos disease (DDD) is an autosomal dominant genodermatosis characterised by acquired hyperpigmentation in a reticulate pattern, particularly affecting the flexural areas and other major skin folds. Mutations in KRT5, POFUT1 and POGLUT1 genes have been identified as causative genetic defects1,2,3. We report a new mutation in KRT5 in a sporadic Chinese patient with classical features of DDD. The patient, a 54-year-old man presented a 10-year history of progressively prutitic reticulated h...
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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 ...
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