Bannayan RileyRuvalcaba syndrome

Synonym(s)

Bannayan-Zonana syndrome; Riley-Smith syndrome; Ruvalcaba-Myhre syndrome; Ruvalcaba-Myhre-Smith syndrome; Banna-yan syndrome; Cowden/Bannayan-Riley-Ruvalcaba overlap syndrome; PTEN hama-rtoma tumor syndrome; macrocephaly; pseudopapilledema; multiple hemangiom-ata syndrome; multiple lipomas

Definition

Disease characterized by hamartomatous polyps of the small and large intestine, macrocephaly, lipomas, hemangiomas, thyroid abnormalities, and freckling of the penis

Pathogenesis

Autosomal dominant inheritance; mutation in the tumor suppressor gene, PTEN

84 Bannayan-Zonana syndrome

Clinical manifestation

Hamartomatous polyps of the small and large intestine; macrocephaly; lipomas; hemangiomas; thyroid abnormalities; penile freckling; developmental delay; increased risk for both benign and malignant tumors

Differential diagnosis

Cowden's syndrome; Gardner's syndrome;

multiple lentigines syndrome

Therapy

Increased breast, thyroid, and colon cancer surveillance; surgical excision of lipomas and hemangiomas for cosmetic purposes only

References

Fargnoli MC, Orlow SJ, Semel-Concepcion J, Bo-lognia JL (1996) Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome. Archives of Dermatology 132(10)11214-1218

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