英: hereditary benign intraepithelial dyskeratosis
関: フォン・サルマン-パトン-ウィットコップ症候群

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リンク元	「フォン・サルマン-パトン-ウィットコップ症候群」「hereditary benign intraepithelial dyskeratosis」
関連記事	「角化症」「上皮」「遺伝」「角化」「遺伝性」

「フォン・サルマン-パトン-ウィットコップ症候群」

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英: von Sallmann-Paton-Witkop syndrome
同: ウィットコップ-フォン・サルマン症候群、遺伝性良性上皮内異角化症 hereditary benign intraepithelial dyskeratosis

参考2より引用

Characteristic histologic changes of the prickle cell layer of the mucosa include numerous round, waxy-looking, eosinophilic cells that appear to be engulfed by normal cells, giving a cell-within-cell appearance. In a triracial isolate in North Carolina, Witkop et al. (1960) found this disorder in at least 83 persons. The conjunctiva and oral mucous membranes are affected. The oral lesion, which grossly resembles leukoplakia, is not precancerous. The eye lesions resemble pterygia (see 178000). The only symptoms are produced by involvement of the cornea, resulting in impairment of vision. Histologically, characteristic findings are obtained in oral and eye scraping. Penetrance is about 97% and there is little effect on reproductive fitness. Yanoff (1968) described the condition in mother and daughter. This was the only report of the condition in persons apparently unrelated to the North Carolinian triracial isolate, the 'Haliwa Indians,' studied by Witkop and Gorlin (1961). However, Gorlin (1971) stated that Yanoff's patients were in fact related to Witkop's. (Members of the triracial isolate are called Haliwa Indians because they live in Halifax and Warren Counties, North Carolina.) Shields et al. (1987) described an affected 37-year-old woman of Haliwa ancestry who was born in Philadelphia.

By linkage analysis, Allingham et al. (2001) localized the gene for benign intraepithelial dyskeratosis, which they abbreviated HBID, to 4q35 with a peak lod score of 8.97. Molecular analysis revealed that all individuals affected with HBID in the 2 large families studied had 3 alleles for 2 tightly linked markers, D4S1652 and D4S2390, which map to the telomeric region of 4q35. They suggested that a duplication was involved in the causation of the disorder.