Bannayan–Riley–Ruvalcaba syndrome
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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 manner.[4] 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, these four syndromes are referred to as PTEN Hamartoma-Tumor Syndromes.[5]
Quick Facts Other names, Specialty ...
Bannayan–Riley–Ruvalcaba syndrome | |
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Other names | BRRS |
Autosomal dominant is the manner in which this condition is inherited | |
Specialty | Oncology, medical genetics |
Symptoms | Enlarged head[1] |
Causes | Mutations in the PTEN gene [2] |
Diagnostic method | Based on signs and symptoms[3] |
Treatment | Based on symptoms[3] |
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