Arteriovenous and lymphatic malformations, linear verrucous epidermal nevus and mild overgrowth: another hamartoneoplastic syndrome?
We report a 22 year old female presenting with slowly progressive paraparesis, who appeared to have many (mainly subcutaneous) hamartomas. The neurological symptoms were caused by intraspinal masses and arteriovenous malformations. In addition, she had mild overgrowth of one leg and lymph vessel malformations. This combination of symptoms resembles Proteus syndrome, but is different in symptomatology and progression and may be yet another hamartoneoplastic syndrome.
D000328:Adult; D001165:Arteriovenous Malformations / Q000473:pathology*; D005260:Female; D006223:Hamartoma Syndrome, Multiple / Q000473:pathology*; D006801:Humans; D008208:Lymphatic System / Q000002:abnormalities*; D008279:Magnetic Resonance Imaging; D009506:Nevus / Q000473:pathology*; D010291:Paresis / Q000473:pathology; D011859:Radiography; D013122:Spinal Diseases / Q000000981:diagnostic imaging / Q000473:pathology; D013577:Syndrome