| Additional familial case of subtotal leukonychia and sebaceous cysts (Bauer syndrome): belong the nervous tumours to the phenotype? | |
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MedLine Citation:
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PMID: 18684681 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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:
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Gilles Morin; Christine Desenclos; Cécile Jeanpetit; Nicolas Lévy; Hervé Deramond; Michèle Mathieu |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2008-05-28 |
Journal Detail:
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Title: European journal of medical genetics Volume: 51 ISSN: 1769-7212 ISO Abbreviation: Eur J Med Genet Publication Date: 2008 Sep-Oct |
Date Detail:
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Created Date: 2008-09-08 Completed Date: 2008-11-13 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 436-43 Citation Subset: IM |
Affiliation:
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Clinical Genetic Unit, University Hospital, Amiens, France. morin.gilles@chu-amiens.fr |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Brain / pathology Deafness / diagnosis, genetics Epidermal Cyst / diagnosis, genetics* Family Health Female Humans Male Nails, Malformed / diagnosis, genetics* Nervous System Neoplasms / diagnosis, genetics Neuroma / diagnosis, genetics* Pedigree Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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