Bannayan-Riley-Ruvalcaba Syndrome

Summarized by Plex Health
Last Updated: 08 May 2022
bannayan-riley-ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report. "bannayan-riley-ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report.", by Gontijo GM, Pinto CA, Rogatto SR, Cunha IW, Aguiar S, Alves CA. f01: Multiple masses of soft consistency on the back and hips, larger on the rightside...

Bannayan-Riley-Ruvalcaba syndrome is a hereditary condition identified by a large head size, several tumor-like developments and noncancerous tumors called hamartomas, and dark freckles on the penis in males. The signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome exist from birth or emerge in early childhood years. About fifty percent of all children with Bannayan-Riley-Ruvalcaba syndrome have intellectual disability or delayed growth, specifically the growth of speech and of motor abilities such as resting, creeping, and strolling. About half of all people with Bannayan-Riley-Ruvalcaba syndrome develop hamartomas in their intestinal tracts, called hamartomatous polyps. Other noncancerous developments usually linked with Bannayan-Riley-Ruvalcaba syndrome include fatty tumors called lipomas and angiolipomas that develop under the skin. People with Bannayan-Riley-Ruvalcaba syndrome might also have an increased risk of developing specific cancers, although scientists are still working to identify the cancer threats linked with this problem. Other signs and symptoms that have been reported in people with Bannayan-Riley-Ruvalcaba syndrome consist of weak muscle mass tone and other muscular tissue problems, and seizures. Some affected individuals have thyroid issues, such as an enlargement of the thyroid gland, called multinodular goiter, or a condition called Hashimoto thyroiditis. The features of Bannayan-Riley-Ruvalcaba syndrome overlap with those of another disorder called Cowden syndrome. People with Cowden syndrome develop hamartomas and other noncancerous developments; they additionally have an increased risk of developing certain types of cancer. Some people with Bannayan-Riley-Ruvalcaba syndrome have had loved ones identified with Cowden syndrome, and other people have had the characteristic features of both conditions. Based on these resemblances, researchers have proposed that Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome stand for a spectrum of overlapping features understood as PTEN hamartoma tumor syndrome rather than 2 unique problems.

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