title: Association of hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) and malignant melanoma in two patients.
abstract: Hereditary haemorrhagic telangiectasia is a rare autosomal-dominant vascular dysplasia characterized by telangiectasia, recurrent epistaxis, visceral arteriovenous manifestations and inheritance. Several reports have pointed out that hereditary haemorrhagic telangiectasia could be associated with various neoplasm development. Malignant melanoma has occasionally been reported. We herein describe two cases of fatal malignant melanoma that developed in patients with hereditary haemorrhagic telangiectasia. The potential pathogenetic relationship between those two diseases is discussed.
authors.affiliation: Dermatiology Unit, Saint Eloi Hospital, Montpellier, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Kluger
authors.forename: Sophie
authors.initials: S
authors.lastname: Riviére
authors.forename: Isabelle
authors.initials: I
authors.lastname: Coupier
authors.forename: Didier
authors.initials: D
authors.lastname: Bessis
authors.forename: Bernard
authors.initials: B
authors.lastname: Guillot
mesh_terms: D000368:Aged; D015703:Antigens, CD / Q000235:genetics; D000071063:Endoglin; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D011956:Receptors, Cell Surface / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000235:genetics* / Q000473:pathology
chemical_list: D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface