title: Additional familial case of subtotal leukonychia and sebaceous cysts (Bauer syndrome): belong the nervous tumours to the phenotype?
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.
authors.affiliation: Clinical Genetic Unit, University Hospital, Amiens, France. morin.gilles@chu-amiens.fr
authors.forename: Gilles
authors.initials: G
authors.lastname: Morin
authors.forename: Christine
authors.initials: C
authors.lastname: Desenclos
authors.forename: Cécile
authors.initials: C
authors.lastname: Jeanpetit
authors.forename: Nicolas
authors.initials: N
authors.lastname: Lévy
authors.forename: Hervé
authors.initials: H
authors.lastname: Deramond
authors.forename: Michèle
authors.initials: M
authors.lastname: Mathieu
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology; D003638:Deafness / Q000175:diagnosis / Q000235:genetics; D004814:Epidermal Cyst / Q000175:diagnosis / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D009264:Nails, Malformed / Q000175:diagnosis / Q000235:genetics*; D009423:Nervous System Neoplasms / Q000175:diagnosis / Q000235:genetics; D009463:Neuroma / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome