Rectal bleeding and red–purple masses on lower extremities
A 10-year-old girl presented with rectal bleeding, without diarrhoea, abdominal pain, or other symptoms. On physical examination, she had extensive red–purple masses on her right lower extremity. What was the cause of her bleeding? A) Klippel–Trénaunay syndrome B) Juvenile polyposis C) Peutz–Jeghers syndrome D) Bannayan–Riley–Ruvalcaba syndrome
D) Bannayan-Riley-Ruvalcaba is a rare overgrowth syndrome and hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas. The disease is inherited in an autosomal dominant manner. The disease belongs to a family of hamartomatous polyposis syndromes, which also includes Peutz–Jeghers syndrome (is an autosomal dominant genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa) and juvenile polyposis ( syndrome characterized by the appearance of multiple juvenile polyps in the gastrointestinal tract. Polyps are abnormal growths arising from a mucous membrane) and Cowden syndrome.
