title: Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?
abstract: Cowden syndrome is an autosomal dominant condition of multiple hamartomas. Patients with this phakomatosis have an increased risk of breast cancer and thyroid tumours. Lhermitte-Duclos disease is usually a sporadic condition of cerebellar ganglion cell hypertrophy, ataxia, mental retardation, and self-limited seizure disorder. We describe a three generation family with Cowden syndrome and Lhermitte-Duclos disease. Karyotyping performed on the peripheral lymphocytes of the proband and her affected mother showed a 46,XX complement. Single strand conformational polymorphism analysis failed to show any germline p53 mutations as a cause of the syndrome in this family.
authors.affiliation: Department of Pathology, University of Cambridge, UK.
authors.forename: C
authors.initials: C
authors.lastname: Eng
authors.forename: V
authors.initials: V
authors.lastname: Murday
authors.forename: S
authors.initials: S
authors.lastname: Seal
authors.forename: S
authors.initials: S
authors.lastname: Mohammed
authors.forename: S V
authors.initials: SV
authors.lastname: Hodgson
authors.forename: M A
authors.initials: MA
authors.lastname: Chaudary
authors.forename: I S
authors.initials: IS
authors.lastname: Fentiman
authors.forename: B A
authors.initials: BA
authors.lastname: Ponder
authors.forename: R A
authors.initials: RA
authors.lastname: Eeles
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics; D002526:Cerebellar Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002648:Child; D005260:Female; D018226:Fibroadenoma / Q000235:genetics; D005799:Genes, Dominant; D016158:Genes, p53; D006223:Hamartoma Syndrome, Multiple / Q000150:complications / Q000235:genetics*; D006801:Humans; D006984:Hypertrophy; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D013577:Syndrome