Bannayan-Riley-Ruvalcaba syndrome

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

Macule

A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.


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PMID (PMCID)
29168369
 MALE Child
Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome.
Hzarcoglu-Gulsen H, Klc E, Dominguez-Garrido E, Aydemir Y, Utine GE, Saltk-Temizel N.
Turk J Pediatr. 2017;59(1):80-83.
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal dominant inherited polyposis syndrome characterized by macrocephaly, lipomatosis, hemangiomatosis, intestinal polyposis and pigmented macules on penis.
17043057
 MIXED_SAMPLE Middle Aged
PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping.
Suphapeetiporn K, Kongkam P, Tantivatana J, Sinthuwiwat T, Tongkobpetch S, Shotelersuk V.
Jpn J Clin Oncol. 2006;36(12):814-21.
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is an autosomal dominant disorder characterized by macrocephaly, intestinal hamartomatous polyps, lipomas and pigmented macules of the glans penis.
8859033
 MIXED_SAMPLE Adult
Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome.
Fargnoli MC, Orlow SJ, Semel-Concepcion J, Bolognia JL.
Arch Dermatol. 1996;132(10):1214-8.
The histologic findings of both the facial lesions and the pigmented macules of the penis in the Bannayan-Riley-Ruvalcaba syndrome have not, to our knowledge, been reported previously.