Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?
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.
Eng
C
C
Department of Pathology, University of Cambridge, UK.
Murday
V
V
Seal
S
S
Mohammed
S
S
Hodgson
S V
SV
Chaudary
M A
MA
Fentiman
I S
IS
Ponder
B A
BA
Eeles
R A
RA
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