Cole-Engman症候群
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概要
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A case of Cole-Engman syndrome which is a rare and fatal genodermatosis, characterised by the triad of reticulated hyperpigmentation of the skin, nail dystrophy, and leukoplakia of the mucous membrane was reported.The patient was 16-year-old who had shown reticulated skin pigmentation on the bilateral ear, the neck, and the anterior chest, and atrophy and deformation of the nails for 5 years. Last year, folds and ulcers of the tongue emerged associated with pancytopenia, splenomegaly and hyperhidrosis in the regions of palms and soles.Unfortunately, there was no effective treatments for this disease.
- 社団法人 日本耳鼻咽喉科学会の論文