Ultrastructural study of dyschromatosis symmetrica hereditaria with widespread pigmentary eruption

Ultrastructural study of dyschromatosis symmetrica hereditaria with widespread pigmentary eruption Dear Editor,Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominantly inherited disorder characterized by hyperpigmentation and hypopigmentation primarily on the dorsal hands and feet. We have previously described cases involving frame‐shift mutations; however, in the present report, we focus on the ultrastructure of the hyperpigmented and hypopigmented skin of the dorsal feet.A 4‐year‐old girl was referred for the evaluation of pigmentary changes on her face and extremities that appeared at the age of 1 year. Physical examination revealed many small depigmented and hyperpigmented spots, all approximately 1–2 mm in diameter, disseminated on her face and extremities (Fig. a,b; the parents of the patient provided written informed consent for the publication of the photographs). The dyschromia was exaggerated on exposed areas such as the upper arms, face and thighs; however, the covered area was spared. She was otherwise healthy. Her relatives had no history of pigmentary changes. In our previous study, we reported on the ADAR1 frame‐shift mutation, c.2545dupC, p.H849fsX857.(a,b) The patient developed many small pigmented and depigmented spots, all approximately 1–2 mm in diameter, both on the face and extremities. (c) In the hyperpigmented skin, regularly distributed melanocytes (M) are observed on the basal layer. (d) In the hypopigmented skin, http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png The Journal of Dermatology Wiley

Ultrastructural study of dyschromatosis symmetrica hereditaria with widespread pigmentary eruption

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Publisher
Wiley
Copyright
Copyright © 2017 Japanese Dermatological Association
ISSN
0385-2407
eISSN
1346-8138
DOI
10.1111/1346-8138.13849
Publisher site
See Article on Publisher Site

Abstract

Dear Editor,Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominantly inherited disorder characterized by hyperpigmentation and hypopigmentation primarily on the dorsal hands and feet. We have previously described cases involving frame‐shift mutations; however, in the present report, we focus on the ultrastructure of the hyperpigmented and hypopigmented skin of the dorsal feet.A 4‐year‐old girl was referred for the evaluation of pigmentary changes on her face and extremities that appeared at the age of 1 year. Physical examination revealed many small depigmented and hyperpigmented spots, all approximately 1–2 mm in diameter, disseminated on her face and extremities (Fig. a,b; the parents of the patient provided written informed consent for the publication of the photographs). The dyschromia was exaggerated on exposed areas such as the upper arms, face and thighs; however, the covered area was spared. She was otherwise healthy. Her relatives had no history of pigmentary changes. In our previous study, we reported on the ADAR1 frame‐shift mutation, c.2545dupC, p.H849fsX857.(a,b) The patient developed many small pigmented and depigmented spots, all approximately 1–2 mm in diameter, both on the face and extremities. (c) In the hyperpigmented skin, regularly distributed melanocytes (M) are observed on the basal layer. (d) In the hypopigmented skin,

Journal

The Journal of DermatologyWiley

Published: Jul 1, 2017

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