By Gary M. White, MD
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder characterized most notably by developmental delay and macrocephaly. It typically presents in childhood. Cutaneous features include pigmented macules on the penis, cafe-au-lait spots, vascular malformations, lipomas, hamartomatous polyps of the distal ileum and colon, and Hashimoto thyroiditis.
- BRRS is an autosomal dominant overgrowth syndrome.
- 65% of patients have PTEN mutations
- Classic triad:
- Genital lentiginosis
- Hamartomatous polyps of distal ileum/colon
- Developmental delay or mental retardation.
Bannayan-Riley-Ruvalcaba syndrome vs Cowden Syndrome
Because of the many similarities between Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome (e.g., PTEN mutation, harmatomatous polyps, macrocephaly) and that some people with Bannayan-Riley-Ruvalcaba syndrome have had relatives diagnosed with Cowden syndrome [J Cutan Med Surg. 2001 May-Jun;5(3):228-30], and other individuals have had the characteristic features of both conditions, many have proposed that Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions see also overgrowth syndromes.
- Vascular malformations
- Papillomas-oral, facial, acral
- Acanthosis-like lesions
- Multiple skin tags
- Genital pigmented macules
- Café au lait macules
- Thyroid abnormalities
- Overgrowth (prenatal/postnatal)
- Hypotonia, autism, mental retardation, seizures (25%), developmental delay
- CV: AVM, ASD, aneurysms
- Joint hyperextensibility, high-arched palate, scoliosis
- Facial dysmorphism
- Eye: pseudopapilloedema, prominent Schwalbe lines
A 12-year-old boy with intermittent rectal bleeding and penile lentigines. Journal of Digestive Endoscopy Vol 4; October-December 2013
JAAD February 2000 Volume 42, Issue 2, Part 2, Pages 348–350
11 year old boy. JAAD 2005;53:639
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