Arteriovenous malformations in Cowden syndrome.
نویسندگان
چکیده
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.
منابع مشابه
The Synergistic Effect of Bleomycin, Triamcinolone and Epinephrine in Treatment of Hemangioma and Arteriovenous Malformations
BACKGROUND Hemangioma is the most common tumor of neonatal period and it is almost always appeared by the end of the first week of life and can be found mostly in head and neck area. This study evaluated the synergistic effect of bleomycin, triamcinolone and epinephrine in treatment of hemangioma and arte-riovenous malformations. METHODS In this multicenter study, a combination of bleomycin,...
متن کاملTwenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome)
PURPOSE Follow-up of vascular changes in a patient with congenital retinocephalofacial vascular malformation syndrome. METHODS MRI and cerebral angiography. RESULTS In a 36-year-old man, magnetic resonance imaging of the skull and cerebral angiography revealed left intracranial arteriovenous malformations. Follow-up observation of 27 years revealed no essential change of retinal and cerebra...
متن کاملLong term effects of Gamma knife Radiosurgery for treatment of cerebral arteriovenous malformations
Abstract Background: The Gamma Knife Radiosurgery (GKR) is an established management option for Cerebral Ar-teriovenous Malformations (AVMS). Therapeutic benefits of radiosurgery for arteriovenous malformations are complete obliteration of nidus with minimal neurological deficit. Methods: Radiosurgery was performed between February 2003 and April 2010 at Kamraniye day clinic, Teh-ran, Iran, us...
متن کاملArteriovenous malformations of the colon: A report of two cases and review of the literature
Background: Arteriovenous malformations are one of the most common vascular disorders of the colon. Vascular disorders present as painless, high-volume rectal bleeding. Case Presentation: This study elucidates two rare cases of vascular disorders that are diagnosed as angiodysplasia of the left colon and cavernous hemangioma of the colon and rectum. The chief complaint in two patients ...
متن کاملRASA1: variable phenotype with capillary and arteriovenous malformations.
Capillary malformation-arteriovenous malformation (CM-AVM) is a newly discovered hereditary disorder. Its defining features are atypical cutaneous multifocal capillary malformations often in association with high-flow lesions: cutaneous, subcutaneous, intramuscular, intraosseous and cerebral arteriovenous malformations and arteriovenous fistulas. Some patients have Parkes Weber syndrome - a lar...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Journal of medical genetics
دوره 42 8 شماره
صفحات -
تاریخ انتشار 2005