Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2814531 | European Journal of Medical Genetics | 2008 | 8 Pages |
Abstract
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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Authors
Gilles Morin, Christine Desenclos, Cécile Jeanpetit, Nicolas Lévy, Hervé Deramond, Michèle Mathieu,