Bannayan–Riley–Ruvalcaba syndrome

Bannayan–Riley–Ruvalcaba syndrome
Autosomal dominant
Classification and external resources
ICD-10	Q87.8
OMIM	153480
DiseasesDB	31337
MeSH	D006223

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.^[1] 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.^[2]

Signs and symptoms

Bannayan–Riley–Ruvalcaba syndrome is associated with enlarged head and benign mesodermal hamartomas (multiple hemangiomas, and intestinal polyps). Dysmorphy as well as delayed neuropsychomotor development can also be present.^[3][2] The head enlargement does not cause widening of the ventricles or raised intracranial pressure; these individuals have a higher risk of developing tumors, as the gene involved in BRRs is phosphatase and tensin homologue.

Some individuals have thyroid issues consistent with multinodular goiter, thyroid adenoma, differentiated non-medullary thyroid cancer, most lesions are slowly growing. Visceral as well as intracranial involvement may occur in some cases, and can cause bleeding and symptomatic mechanical compression^[4][5]

Genetics

PTEN

The genetics of the Bannayan–Riley–Ruvalcaba syndrome is determined, in the majority of cases, via the PTEN gene which presents about 30 mutations in this condition. This gene which regulates cell growth, when not working properly can lead to hamartomas. PTEN chromosomal location is 10q23.31, while the molecular location is 87,863,438 to 87,971,930 ^[6][5] There are many syndromes that are linked to PTEN aside from Bannayan–Riley–Ruvalcaba Syndrome.^[7]

The syndrome combines Bannayan–Zonana syndrome, Riley–Smith syndrome, and Ruvalcaba–Myhre–Smith syndrome.^[8] Bannayan–Zonana syndrome is named for George A. Bannayan and Jonathan Zonana^[9]

Diagnosis

In terms of diagnosing Bannayan–Riley–Ruvalcaba syndrome there is no current method outside the physical characteristics that may be present as signs/symptoms.^[10] There are, however, multiple molecular genetics tests (and cytogenetic test) to determine Bannayan–Riley–Ruvalcaba syndrome.^[11]

Differential diagnosis

The differential diagnosis for BRRS consists of the following:^[12]

Treatment

Kidney

In terms of treatment/management one should observe what signs or symptoms are present and therefore treat those as there is no other current guideline. The affected individual should be monitored for cancer of:^[10]

• Thyroid
• Breast
• Renal

See also

• List of cutaneous conditions
• List of cutaneous neoplasms associated with systemic syndromes

References

Further reading

• Gilbert-Barness, Enid; Kapur, Raj P.; Oligny, Luc Laurier; Siebert, Joseph R. (2007). Potter's Pathology of the Fetus and Infant: 2-Volume Set. Edinburgh: Elsevier Health Sciences. ISBN 9780323076166. Retrieved 9 December 2016. 
• (eds.), Martino Ruggieri, Ignacio Pascual-Castroviejo, Concezio Di Rocco,; Castroviejo, Ignacio Pascual; Rocco, Concezio Di (2008). Neurocutaneous disorders phakomatoses and hamartoneoplastic syndromes (revised. ed.). Wien: Springer. ISBN 9783211695005. Retrieved 9 December 2016. CS1 maint: Extra text: authors list (link)