Ruvalcaba-Myhre-Smith syndrome: a new consideration in the differential diagnosis of intestinal polyposis.
We present a case of Ruvalcaba-Myhre-Smith syndrome, which, to our knowledge, has not been reported in the radiologic literature. This rare entity is characterized by intestinal polyps, macrocephaly, and hyperpigmented genital macules. The differentiation of this syndrome from other polyposis syndromes is discussed.
D000328:Adult; D003110:Colonic Neoplasms / Q000175:diagnosis / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D004379:Duodenal Neoplasms / Q000175:diagnosis* / Q000000981:diagnostic imaging; D006222:Hamartoma / Q000175:diagnosis* / Q000000981:diagnostic imaging; D006257:Head / Q000002:abnormalities*; D006801:Humans; D007078:Ileal Neoplasms / Q000175:diagnosis / Q000000981:diagnostic imaging; D007417:Intestinal Polyps / Q000175:diagnosis* / Q000000981:diagnostic imaging; D008297:Male; D010409:Penile Diseases / Q000175:diagnosis*; D010859:Pigmentation Disorders / Q000175:diagnosis*; D011127:Polyps / Q000175:diagnosis / Q000000981:diagnostic imaging; D011859:Radiography; D013274:Stomach Neoplasms / Q000175:diagnosis / Q000000981:diagnostic imaging; D013577:Syndrome