Bannayan–Riley–Ruvalcaba syndrome
| Bannayan–Riley–Ruvalcaba syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 153480 |
| DiseasesDB | 31337 |
| Patient UK | Bannayan–Riley–Ruvalcaba syndrome |
| MeSH | D006223 |
Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare overgrowth syndrome and hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas.[1][2] The disease is inherited in an autosomal dominant form, but sporadic cases have been reported. 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. Collectively, these four syndromes are referred to as PTEN Hamartoma-Tumor Syndromes (PHTS).
Signs and symptoms
Bannayan-Riley-Ruvalcaba syndrome is characterized by an enlarged head, pigmented maculae of the glans penis, and benign mesodermal hamartomas (primarily subcutaneous and visceral lipomas, multiple hemangiomas, and intestinal polyps). Dysmorphy as well as delayed neuropsychomotor development can also be present.
The head enlargement is symmetrical, and does not cause widening of the ventricles or raised intracranial pressure.
These patients have a higher risk of developing tumors, as the gene involved in BRRs is phosphatase and tensin homologue (PTEN).
Up to 30% of the patients have thyroid involvement consistent with multinodular goiter, thyroid adenoma, differentiated non-medullary thyroid cancer, or Hashimoto's thyroiditis. Most lesions are slowly growing and easily resectable. Visceral as well as intracranial involvement may occur in rare cases, and can cause bleeding and symptomatic mechanical compression, especially of the spinal cord or spinal nerve roots. This may require surgical resection.
Etymology
The syndrome combines Bannayan–Zonana syndrome, Riley–Smith syndrome, and Ruvalcaba–Myhre–Smith syndrome.[3] Bannayan–Zonana syndrome is named for George A. Bannayan and Jonathan Zonana.[4][5][6] Riley–Smith syndrome was named for Harris D. Riley, Jr. and William R. Smith.[7] Ruvalcaba–Myhre–Smith syndrome is named for S. Myhre, Rogelio H. A. Ruvalcaba and David Weyhe Smith.[8]
See also
References
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ synd/1276 at Who Named It?
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ synd/1731 at Who Named It?
- ↑ synd/1275 at Who Named It?
