90
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Dyschromatosis Symmetrica Hereditaria of Late Onset?

      case-report

      Read this article at

      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Dyschromatosis symmetrica hereditaria (DSH), also known as reticulated acropigmentation of Dohi, is an autosomal dominant disease with high penetrance, characterized by hypo- and hyperpigmented macules of varying sizes on the dorsal of the extremities with reticulated pattern. This paper presents a female patient with typical dermatological lesions, but only diagnosed in adulthood. It is necessary to perform differential diagnosis with other pigmentary disorders. This entity is not very common in South America, and the vast majority of cases were described in Japanese population. Since it is a benign disease, it is important to be aware of this diagnosis in order to establish the correct conduct for these patients.

          Related collections

          Most cited references11

          • Record: found
          • Abstract: found
          • Article: not found

          Dyschromatosis symmetrica hereditaria.

          Dyschromatosis symmetrica hereditaria (DSH) is a rare pigmentary genodermatosis, which is acquired by autosomal dominant inheritance with high penetrance. Most cases of this condition have been reported from East Asian countries, including Japan, China and Taiwan. Its symptoms are mixed hyper- and hypopigmented macules on the dorsal aspect of the hands and feet and freckle-like macules on the face. The gene responsible for DSH has been identified as adenosine deaminase acting on RNA1 (ADAR1). The ADAR1 protein catalyzes the transformation of adenosine to inosine in dsRNA substrates (so-called A-to-I editing) and is involved in various activities, such as viral inactivation, structural change of the protein and the resultant cell survival. However, its function in the skin and role in the development of DSH are still unknown. To date, more than 100 mutations of ADAR1 have been reported in patients with DSH, and the catalytic domain deaminase is believed to be crucial to the activities of this gene. Some complications of DSH have been reported and, intriguingly, several patients have been reported to develop neurological symptoms, such as dystonia and mental deterioration. Because ADAR1 plays various important roles in human tissue, we believe that a clarification of the pathogenesis of DSH will promote the understanding of the physiological functions of ADAR1, which will have significant scientific implications.
            Bookmark
            • Record: found
            • Abstract: found
            • Article: found
            Is Open Access

            Case for diagnosis*

            We present a case of bullosis diabeticorum. It is a rare disorder, probably underdiagnosed, associated with long-term diabetes mellitus. Its etiology remains unclear. It is characterized by tense blisters, with serous content, recurrent and spontaneous on normal skin especially in the acral regions. Displays self-limiting course. No specific laboratory tests for diagnosis of this bullous disease exist. Clinical and conservative management to prevent secondary infection reduces morbidity in diabetic patients.
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              The spectrum of reticulate pigment disorders of the skin revisited.

              Within the group of classical reticulate pigment disorders of the skin, Galli-Galli disease (GGD), Dowling-Degos disease (DDD), Kitamura's disease (RPK), Haber's syndrome (HS), and reticulate acropigmentation of Dohi (RAD) are included and distinguished clinically and histopathologically. The clinical appearance of the reticulate pigment disorders of the skin is similar, with slight differences in age of onset and associated disorders. The histopathologic features of reticulate pigment disorders of the skin are comparable, with the exception of the unique hallmark of suprabasal acantholysis, which can be observed exclusively in GGD. Based on a critical discussion, we recommend using major and minor defining criteria for diagnosing skin lesions compatible with the reticulate pigment dermatoses of the skin. Herein we discuss a unifying nosological concept to provide straightforward diagnoses of the reticulate pigment disorders of the skin with a therapeutic impact.
                Bookmark

                Author and article information

                Journal
                Case Rep Dermatol Med
                Case Rep Dermatol Med
                CRIDM
                Case Reports in Dermatological Medicine
                Hindawi Publishing Corporation
                2090-6463
                2090-6471
                2014
                4 February 2014
                : 2014
                : 639537
                Affiliations
                1Dermatology Department, Federal University of Parana, 80530-905 Curitiba, PR, Brazil
                2Pathology Department, Federal University of Parana, 80530-905 Curitiba, PR, Brazil
                Author notes
                *Janyana M. D. Deonizio: janyanadd@ 123456yahoo.com.br

                Academic Editors: A. Morita and E. Schmidt

                Article
                10.1155/2014/639537
                4006555
                24826352
                ee469a0f-df25-4327-bdd0-7da8d6657e8f
                Copyright © 2014 Caroline Balvedi Gaiewski et al.

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 29 November 2013
                : 18 December 2013
                Categories
                Case Report

                Dermatology
                Dermatology

                Comments

                Comment on this article