In 1960, Riley and Smith described a mother and her four children with macrocephaly and pseudopapilledema due to a mutation in a single autosomal gene. In 1971, Bannayan described a 3-year-old girl with macrocephaly and numerous subcutaneous lesions ranging from lipolymphangio-hemangiomas to vascular hamartomas. This syndrome was felt to be related to the one reported earlier by Riley and Smith since both lipomatosis and hemangiomatosis are hamartomatous malformations. In 1980, Ruvalcaba, Myhre, and Smith described two patients with macrocephaly, mental retardation, pigmented spotting of the glans penis and shaft, and multiple polyps of the gastrointestinal tract. The cases described by Bannayan, Riley, Ruvalcaba, Myhre, and Smith were later known as the Bannayan–Riley–Ruvalcaba syndrome (BRRS) when Gorlin and colleagues in 1992 coined the term based on evidence of overlap of these syndromes, and later would be linked to mutations in the PTENgene, which also causes Cowden syndrome...
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(2012). Bannayan–Riley–Ruvalcaba Syndrome. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_21
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