Association of hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) and malignant melanoma in two patients.
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.
Kluger
Nicolas
N
Dermatiology Unit, Saint Eloi Hospital, Montpellier, France.
Riviére
Sophie
S
Coupier
Isabelle
I
Bessis
Didier
D
Guillot
Bernard
B
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
D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface