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Bannayan–Riley–Ruvalcaba syndrome (BRRS) 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 form, but sporadic cases have been reported. The disease belongs to a family of hamartomatous polyposis syndromes, which also includes Peutz–Jeghers syndrome, juvenile polyposis and Cowden syndrome. Mutation of the PTEN gene underlies this syndrome, as well as Cowden syndrome, Proteus syndrome, and Proteus-like syndrome. Collectively, these four syndromes are referred to as PTEN Hamartoma-Tumor Syndromes (PHTS). ==Signs and symptoms== Bannayan-Riley-Ruvalcaba syndrome is characterized by an enlarged head, pigmented maculae of the glans penis, and benign mesodermal hamartomas (primarily subcutaneous and visceral lipomas, multiple hemangiomas, and intestinal polyps). Dysmorphy as well as delayed neuropsychomotor development can also be present. The head enlargement is symmetrical, and does not cause widening of the ventricles or raised intracranial pressure. These patients have a higher risk of developing tumors, as the gene involved in BRRs is phosphatase and tensin homologue (PTEN). Up to 30% of the patients have thyroid involvement consistent with multinodular goiter, thyroid adenoma, differentiated non-medullary thyroid cancer, or Hashimoto's thyroiditis. Most lesions are slowly growing and easily resectable. Visceral as well as intracranial involvement may occur in rare cases, and can cause bleeding and symptomatic mechanical compression, especially of the spinal cord or spinal nerve roots. This may require surgical resection. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Bannayan–Riley–Ruvalcaba syndrome」の詳細全文を読む スポンサード リンク
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