title: Arteriovenous malformations in Cowden syndrome.
abstract: Cowden syndrome (OMIM No 158350) is a pleomorphic, autosomal dominant syndrome characterised by hamartomas in tissues derived from the endoderm, mesoderm, and ectoderm. It is caused by germline mutations in the PTEN gene and is allelic to the Bannayan-Riley-Ruvalcaba and Lhermitte-Duclos syndromes. The three syndromes are defined on clinical grounds but there is overlap in their definitions. The clinical features include trichilemmomas, verrucose lesions of the skin, macrocephaly, intellectual disability, cerebellar gangliocytoma, thyroid adenomas, fibroadenomas of the breast, and hamartomatous colonic polyps. Cutaneous haemangiomas are occasionally noted. Malignancies often arise in the affected tissues. Visceral arteriovenous malformations are a recognised component of the Bannayan-Riley-Ruvalcaba syndrome but have been reported rarely in Cowden syndrome. A family is described with a clinical diagnosis of Cowden syndrome, a familial frameshift mutation in the PTEN gene, and large visceral arteriovenous malformations. The association of these pleomorphic syndromes with arteriovenous malformations can be explained by the putative role of the PTEN gene in suppressing angiogenesis. Recognition of arteriovenous malformations as a clinical feature of Cowden syndrome has implications for the clinical management of patients with this disorder.
authors.forename: M M
authors.initials: MM
authors.lastname: Turnbull
authors.forename: V
authors.initials: V
authors.lastname: Humeniuk
authors.forename: B
authors.initials: B
authors.lastname: Stein
authors.forename: G K
authors.initials: GK
authors.lastname: Suthers
mesh_terms: D000328:Adult; D001165:Arteriovenous Malformations / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D051059:PTEN Phosphohydrolase / Q000235:genetics; D011859:Radiography
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human