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Dyschromatosis universalis hereditaria.

Published on Sep 1, 2002in Clinical and Experimental Dermatology1.771
· DOI :10.1046/j.1365-2230.2002.01129.x
G Sethuraman5
Estimated H-index: 5
,
Mariette D'Souza7
Estimated H-index: 7
+ 2 AuthorsL. Smiles2
Estimated H-index: 2
(PSG Institute of Medical Sciences and Research)
Abstract
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 formation were seen in one case. Histopathology revealed a variable degree of pigmentary incontinence. Although the precise aetiology of this disorder is not yet known, the clinicopathological findings implicate an inherent abnormality of melanosomes or melanin processing.
  • References (9)
  • Citations (23)
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References9
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Dyskeratosis congenita is a progressive bone-marrow failure syndrome that is characterized by abnormal skin pigmentation, leukoplakia and nail dystrophy1,2. X-linked, autosomal recessive and autosomal dominant inheritance have been found in different pedigrees. The X-linked form of the disease is due to mutations in the gene DKC1 in band 2, sub-band 8 of the long arm of the X chromosome (ref. 3). The affected protein, dyskerin, is a nucleolar protein that is found associated with the H/ACA class...
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#1Nina S. HeissH-Index: 18
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: X-linked dyskeratosis congenita (DKC) is a progressive multisystem disorder most severely affecting tissues with a high cellular turnover such as skin, mucous membranes, and blood. Most patients die of bone marrow failure, although the chances of succumbing to various types of cancer and pulmonary disease are also high. DKC is caused predominantly by missense mutations in the DKC1 gene linked to Xq28. Some of the clinical features are reminiscent of premature ageing and this agrees with recent...
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#1Neil V. Whittock (University of Cambridge)H-Index: 19
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Naegeli–Franceschetti–Jadassohn syndrome is a rare autosomal dominant form of ectodermal dysplasia affecting sweat glands, nails, teeth, and skin. We have studied a multigeneration family of Anglo-Saxon British descent using microsatellite markers to screen candidate loci, including the epidermal differentiation complex on 1q, the keratin gene clusters on chromosomes 12q and 17q and the desmosomal cadherin gene cluster on chromosome 18q. Significant genetic linkage to chromosome 17q was observed...
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We report electron microscopic findings from both hyperchromic and achromic macules of dyschromatosis universalis hereditaria (DUH). The keratinocytes of the hyperchromic macules contained numerous, fully melanized melanosomes; almost all of them were aggregated to form the melanosome complex. In contrast, the melanosomes were absent from both keratinocytes and melanocytes of achromic macules, even though intact melanocytes were found. Our results suggest that DUH may be a disorder of melanosome...
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Summary A syndrome of hyper- and hypopigmentation with melanin, small stature and high-tone deafness is described in the 6-year-old daughter of a first cousin marriage. The condition is discussed in relation to other similar inherited dyschromatoses.
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Dear Editor: Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by hypo- and hyper-pigmented macules with a reticulated pattern, giving an overall impression of mottling, over the trunk and limbs. It is generally an autosomal dominant disorder but recessive inheritance and patients without a family history of dyschromatosis have been reported, implying a sporadic origin1,2. The etiology of this disorder is unknown. It was recently suggested to be a disorder of me...
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Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis reported initially and mainly in Japan. However, subsequent cases have been reported from other countries. We report a case of DUH in a south Indian woman with a positive family history with cosmetic disfigurement and severe psychological impairment.
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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. ...
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