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Accession number;02A0168957
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| Title;A Case of Dyschromatosis Symmetrica Hereditaria with Hypersensitivity to Ultraviolet. |
| Author;
ARAI HIDEE
(Kokuritsuchibabyoin Shonika)
NISHIOKA TADASHI
(Nishiokakurinikku)
SUGITA KATSUO
(Chibadai Kyoiku Kisoikagaku)
KONO YOICHI
(Chibadai Daigakuin'igakukenkyuin Shonibyotaigaku)
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Journal Title;Journal of the Japan Pediatric Society
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Journal Code:F0896A
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ISSN:0001-6543
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VOL.106;NO.1;PAGE.89-92(2002)
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| Figure&Table&Reference;FIG.3, REF.9 |
| Pub. Country;Japan |
| Language;Japanese |
| Abstract;Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant disorder, noted as both hyperpigmented and hypopigmented lesions on the extremities. Based on the similar hyperpigmentosum maculae, xeroderma pigmentpsum (XP) should be diagnosed differentially from DSH. A 13-year-old Korean boy, who was admitted to our hospital because of lymphadenitis on his neck, showed many hyperpigmented and pypopigmented maculae. Physical examination revealed much mottled pigmentation with depigmentation on the face, dorsal hands and feet. The maculae have increased since before one year of age. No neurological abnormalities were seen. His mother and sisters had similar maculae, but no cancer. Cellular UV sensitivity test by colony formation on his fibroblasts revealed middle hypersensitivity between normal control and complication A group XP cells. No mutation was detected on XP variant genes. We diagnosed DSH on the basis of his clinical symptoms and an autosomal dominant inheritance pattern. There has been no report of cellular hypersensitivity to UV in DSH. This case suggested that DNA repair disorders might be involved in DSH. (author abst.) |
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