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Case Reports
Journal Article
Additional familial case of subtotal leukonychia and sebaceous cysts (Bauer syndrome): belong the nervous tumours to the phenotype?
European Journal of Medical Genetics 2008 September
Familial leukonychia with sebaceous cysts is a rare autosomal dominant genetic condition, previously reported in four families. Molecular basis of the disorder is unknown. We report on a five-generation family with subtotal leukonychia and sebaceous cysts. Six individuals were affected, five women and one boy. One of the women exhibited a cervical ependymoma and bilateral multiple inoperable acoustic neuromas. These tumours have never been reported in association with leukonychia and may represent an uncommon severe complication of the syndrome.
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