ELECTRONIC LETTER

Arteriovenous malformations in Cowden syndrome

M M Turnbull¹, V Humeniuk², B Stein³, G K Suthers^1,4

¹ South Australian Clinical Genetics Service, Women’s & Children’s Hospital, North Adelaide, South Australia
² Department of Surgery, The Queen Elizabeth Hospital, Woodville, South Australia
³ Ashford Cancer Centre, Ashford Hospital, Ashford, South Australia
⁴ Department of Paediatrics, University of Adelaide, Adelaide, South Australia

Correspondence to:
Correspondence to:
Dr Graeme Suthers
Familial Cancer Unit, SA Clinical Genetics Service, Women’s & Children’s Hospital, North Adelaide SA 5006, Australia; suthersg{at}mail.wch.sa.gov.au

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.

Abbreviations: AVM, arteriovenous malformation; OMIM, Online Mendelian Inheritance in Man

Keywords: Cowden syndrome; arteriovenous malformation

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