title: Brain magnetic resonance imaging in patients with Cowden syndrome.
abstract: Cowden syndrome (CS) is a rare autosomal dominant genodermatosis, characterized by multiple hamartomas, particularly of the skin, associated with high frequencies of breast, thyroid, and genitourinary malignancies. Although Lhermitte-Duclos disease (LDD) or dysplastic gangliocytoma of the cerebellum, a slowly progressive unilateral tumor, is a major criterion of CS, its frequency in patients with CS is unknown. Other cerebral abnormalities, especially meningioma and vascular malformations, have also been described, albeit rarely, in these patients. The aim of the current study was to use cerebral magnetic resonance imaging (MRI) to evaluate LDD frequency and to investigate other brain abnormalities in CS patients recruited by dermatologists. A multicenter study was conducted in 8 hospital dermatology departments between January 2000 and December 2003. Twenty patients with CS were included; specific cerebral MRI abnormalities were found in 35% (7/20) of them. Cerebral MRI revealed LDD in 3 patients, a meningioma in 1, and numerous vascular malformations in 6 patients. Five patients had venous angiomas (3 associated with LDD) and 2 patients had cavernous angiomas (1 associated with LDD and a venous angioma). The discovery of asymptomatic LDD in 3 patients and a cavernous angioma in another prompted us to perform neurologic examinations regularly and MRI to estimate the size and the extension of the tumor, and to assess the need for surgery. CS similarities with Bannayan-Riley-Ruvalcaba (BRR) are discussed because some patients could also have the BRR phenotype (for example, genital lentigines, macrocephaly, multiple lipomas) and because BRR seems to have more central nervous system vascular anomalies. Because CS signs can involve numerous systems, all physicians who might encounter this disease should be aware of its neurologic manifestations. Our findings confirm the contribution of brain MRI to detecting asymptomatic LDD, vascular malformations, and meningiomas in patients with CS.
authors.affiliation: From Department of Dermatology (CL, VV, CD-T, SC), CHU Sud, Amiens; Department of Dermatology (MFA), Institut Gustave-Roussy, Villejuif; Department of Dermatology (MAR), CHU Sainte-Marguerite, Marseille; Department of Radiology A (CG-J, HD), Department of Neurosurgery (DL), CHU Nord, Amiens; Department of Dermatology (MD), CHU Saint-André, Bordeaux; Department of Dermatology (FP), CHU de Lille, Lille; Department of Dermatology (BD), CHU de Nantes, Nantes; Department of Dermatology (PS), CHU Ambroise-Paré, Boulogne-Billancourt; Molecular Genetics Laboratory (ML), Bergonié Institute, Bordeaux; Department of Dermatology (GL), CHU Tours, Tours; Department of Dermatology (LL, FC), CHU Avicenne, Bobigny, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Lok
authors.forename: Valérie
authors.initials: V
authors.lastname: Viseux
authors.forename: Marie Françoise
authors.initials: MF
authors.lastname: Avril
authors.forename: Marie Aleth
authors.initials: MA
authors.lastname: Richard
authors.forename: Catherine
authors.initials: C
authors.lastname: Gondry-Jouet
authors.forename: Hervé
authors.initials: H
authors.lastname: Deramond
authors.forename: Caroline
authors.initials: C
authors.lastname: Desfossez-Tribout
authors.forename: Sandrine
authors.initials: S
authors.lastname: Courtade
authors.forename: Michèle
authors.initials: M
authors.lastname: Delaunay
authors.forename: Fréderic
authors.initials: F
authors.lastname: Piette
authors.forename: Daniel
authors.initials: D
authors.lastname: Legars
authors.forename: Brigitte
authors.initials: B
authors.lastname: Dreno
authors.forename: Philippe
authors.initials: P
authors.lastname: Saïag
authors.forename: Michel
authors.initials: M
authors.lastname: Longy
authors.forename: Gérard
authors.initials: G
authors.lastname: Lorette
authors.forename: Liliane
authors.initials: L
authors.lastname: Laroche
authors.forename: Fréderic
authors.initials: F
authors.lastname: Caux
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology*; D020787:Central Nervous System Venous Angioma / Q000150:complications / Q000473:pathology; D002528:Cerebellar Neoplasms / Q000150:complications / Q000473:pathology; D002648:Child; D005260:Female; D005729:Ganglioneuroma / Q000150:complications / Q000473:pathology; D006223:Hamartoma Syndrome, Multiple / Q000150:complications / Q000235:genetics / Q000473:pathology*; D006391:Hemangioma / Q000150:complications / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008577:Meningeal Neoplasms / Q000150:complications / Q000473:pathology; D008579:Meningioma / Q000150:complications / Q000473:pathology; D008875:Middle Aged; D009154:Mutation; D051059:PTEN Phosphohydrolase; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human