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Bannayan-Riley-Ruvalcaba syndrome(BRRS)

MedGen UID:
78554
Concept ID:
C0265326
Disease or Syndrome
Synonyms: Bannayan-Zonana syndrome; BRRS; Macrocephaly multiple lipomas and hemangiomata; Macrocephaly pseudopapilledema and multiple hemangiomas; Riley-Smith syndrome; Ruvalcaba -Myhre-Smith syndrome
SNOMED CT: Bannayan syndrome (234138005); Bannayan-Zonana syndrome (234138005); Bannayan-Riley-Ruvalcaba syndrome (234138005); Macrocephaly with multiple lipomas and hemangiomas (234138005); Ruvalcaba Myhre Smith syndrome (234138005); Riley Smith syndrome (234138005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0007924
Orphanet: ORPHA109

Disease characteristics

Excerpted from the GeneReview: PTEN Hamartoma Tumor Syndrome
The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and PTEN-related Proteus-like syndrome. CS is a multiple hamartoma syndrome with a high risk for benign and malignant tumors of the thyroid, breast, kidney, and endometrium. Affected individuals usually have macrocephaly, trichilemmomas, and papillomatous papules, and present by the late 20s. The lifetime risk of developing breast cancer is 85%, with an average age of diagnosis between 38 and 46 years. The lifetime risk for thyroid cancer (usually follicular, rarely papillary, but never medullary thyroid cancer) is approximately 35%. The lifetime risk for renal cell cancer (predominantly of papillary histology) is 34%. The risk for endometrial cancer may approach 28%. BRRS is a congenital disorder characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, and pigmented macules of the glans penis. PS is a complex, highly variable disorder involving congenital malformations and hamartomatous overgrowth of multiple tissues, as well as connective tissue nevi, epidermal nevi, and hyperostoses. Proteus-like syndrome is undefined but refers to individuals with significant clinical features of PS who do not meet the diagnostic criteria for PS. [from GeneReviews]
Authors:
Lamis Yehia  |  Charis Eng   view full author information

Additional descriptions

From OMIM
Blumenthal and Dennis (2008) provided a detailed review of PTEN-related tumor syndromes.  http://www.omim.org/entry/153480
From MedlinePlus Genetics
Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males. The signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome are present from birth or become apparent in early childhood.

At least half of affected infants have macrocephaly, and many also have a high birth weight and a large body size (macrosomia). Growth usually slows during childhood, so affected adults are of normal height and body size. About half of all children with Bannayan-Riley-Ruvalcaba syndrome have intellectual disability or delayed development, particularly the development of speech and of motor skills such as sitting, crawling, and walking. These delays may improve with age.

About half of all people with Bannayan-Riley-Ruvalcaba syndrome develop hamartomas in their intestines, known as hamartomatous polyps. Other noncancerous growths often associated with Bannayan-Riley-Ruvalcaba syndrome include fatty tumors called lipomas and angiolipomas that develop under the skin. Some affected individuals also develop hemangiomas, which are red or purplish growths that consist of tangles of abnormal blood vessels. People with Bannayan-Riley-Ruvalcaba syndrome may also have an increased risk of developing certain cancers, although researchers are still working to determine the cancer risks associated with this condition.

Other signs and symptoms that have been reported in people with Bannayan-Riley-Ruvalcaba syndrome include weak muscle tone (hypotonia) and other muscle abnormalities, and seizures. Some affected individuals have thyroid problems, such as an enlargement of the thyroid gland, known as multinodular goiter, or a condition called Hashimoto thyroiditis. Skeletal abnormalities have also been described with this condition, including an unusually large range of joint movement (hyperextensibility), abnormal side-to-side curvature of the spine (scoliosis), and a sunken chest (pectus excavatum).

The features of Bannayan-Riley-Ruvalcaba syndrome overlap with those of another disorder called Cowden syndrome. People with Cowden syndrome develop hamartomas and other noncancerous growths; they also have an increased risk of developing certain types of cancer. Both conditions can be caused by mutations in the PTEN gene. Some people with Bannayan-Riley-Ruvalcaba syndrome have had relatives diagnosed with Cowden syndrome, and other individuals have had the characteristic features of both conditions. Based on these similarities, researchers 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.  https://medlineplus.gov/genetics/condition/bannayan-riley-ruvalcaba-syndrome

Professional guidelines

PubMed

Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ
Gastroenterology 2022 Jun;162(7):2063-2085. Epub 2022 Apr 26 doi: 10.1053/j.gastro.2022.02.021. PMID: 35487791
Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ
Gastrointest Endosc 2022 Jun;95(6):1025-1047. Epub 2022 Apr 26 doi: 10.1016/j.gie.2022.02.044. PMID: 35487765
Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ
Am J Gastroenterol 2022 Jun 1;117(6):846-864. Epub 2022 Apr 26 doi: 10.14309/ajg.0000000000001755. PMID: 35471415

Recent clinical studies

Etiology

Yehia L, Keel E, Eng C
Annu Rev Med 2020 Jan 27;71:103-116. Epub 2019 Aug 21 doi: 10.1146/annurev-med-052218-125823. PMID: 31433956
Yehia L, Ni Y, Sesock K, Niazi F, Fletcher B, Chen HJL, LaFramboise T, Eng C
PLoS Genet 2018 Apr;14(4):e1007352. Epub 2018 Apr 23 doi: 10.1371/journal.pgen.1007352. PMID: 29684080Free PMC Article
Mester J, Charis E
Handb Clin Neurol 2015;132:129-37. doi: 10.1016/B978-0-444-62702-5.00009-3. PMID: 26564076
Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng C
Am J Hum Genet 2011 Jan 7;88(1):42-56. Epub 2010 Dec 30 doi: 10.1016/j.ajhg.2010.11.013. PMID: 21194675Free PMC Article
Gustafson S, Zbuk KM, Scacheri C, Eng C
Semin Oncol 2007 Oct;34(5):428-34. doi: 10.1053/j.seminoncol.2007.07.009. PMID: 17920899

Diagnosis

Niklinska EB, Lyons EM, Hicks A, Zwerner JP, Albers SE
Pediatr Dermatol 2021 Sep;38(5):1351-1353. Epub 2021 Jul 14 doi: 10.1111/pde.14691. PMID: 34259361
Yehia L, Keel E, Eng C
Annu Rev Med 2020 Jan 27;71:103-116. Epub 2019 Aug 21 doi: 10.1146/annurev-med-052218-125823. PMID: 31433956
Ghusayni R, Sachdev M, Gallentine W, Mikati MA, McDonald MT
Epileptic Disord 2018 Feb 1;20(1):30-34. doi: 10.1684/epd.2018.0954. PMID: 29444762
Mester J, Charis E
Handb Clin Neurol 2015;132:129-37. doi: 10.1016/B978-0-444-62702-5.00009-3. PMID: 26564076
Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng C
Am J Hum Genet 2011 Jan 7;88(1):42-56. Epub 2010 Dec 30 doi: 10.1016/j.ajhg.2010.11.013. PMID: 21194675Free PMC Article

Therapy

Şahin GE, Hoşnut FÖ, Yeşil Ş, Lafcı NG, Gül AE, Şahin G
Turk J Pediatr 2022;64(4):766-774. doi: 10.24953/turkjped.2021.5330. PMID: 36082652
Bevacqua M, Baldo F, Pastore S, Valencic E, Tommasini A, Maestro A, Rabusin M, Arbo A, Barbi E
Paediatr Drugs 2019 Jun;21(3):185-193. doi: 10.1007/s40272-019-00337-7. PMID: 31124053
Moon K, Ducruet AF, Crowley RW, Klas K, Bristol R, Albuquerque FC
J Neurosurg Pediatr 2013 Jul;12(1):87-92. Epub 2013 May 10 doi: 10.3171/2013.3.PEDS12551. PMID: 23662932
Faisal Ahmed S, Marsh DJ, Weremowicz S, Morton CC, Williams DM, Eng C
J Clin Endocrinol Metab 1999 Dec;84(12):4665-70. doi: 10.1210/jcem.84.12.6178. PMID: 10599735

Prognosis

Yehia L, Keel E, Eng C
Annu Rev Med 2020 Jan 27;71:103-116. Epub 2019 Aug 21 doi: 10.1146/annurev-med-052218-125823. PMID: 31433956
Ngeow J, Sesock K, Eng C
Breast Cancer Res Treat 2017 Aug;165(1):1-8. Epub 2015 Dec 23 doi: 10.1007/s10549-015-3665-z. PMID: 26700035
Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW
J Med Genet 2011 Aug;48(8):505-12. Epub 2011 Jun 9 doi: 10.1136/jmg.2011.088807. PMID: 21659347
Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng C
Am J Hum Genet 2011 Jan 7;88(1):42-56. Epub 2010 Dec 30 doi: 10.1016/j.ajhg.2010.11.013. PMID: 21194675Free PMC Article
Perriard J, Saurat JH, Harms M
J Am Acad Dermatol 2000 Feb;42(2 Pt 2):348-50. doi: 10.1016/s0190-9622(00)90109-9. PMID: 10640930

Clinical prediction guides

Ghusayni R, Sachdev M, Gallentine W, Mikati MA, McDonald MT
Epileptic Disord 2018 Feb 1;20(1):30-34. doi: 10.1684/epd.2018.0954. PMID: 29444762
Ngeow J, Sesock K, Eng C
Breast Cancer Res Treat 2017 Aug;165(1):1-8. Epub 2015 Dec 23 doi: 10.1007/s10549-015-3665-z. PMID: 26700035
Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW
J Med Genet 2011 Aug;48(8):505-12. Epub 2011 Jun 9 doi: 10.1136/jmg.2011.088807. PMID: 21659347
Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng C
Am J Hum Genet 2011 Jan 7;88(1):42-56. Epub 2010 Dec 30 doi: 10.1016/j.ajhg.2010.11.013. PMID: 21194675Free PMC Article
Lachlan KL, Lucassen AM, Bunyan D, Temple IK
J Med Genet 2007 Sep;44(9):579-85. Epub 2007 May 25 doi: 10.1136/jmg.2007.049981. PMID: 17526800Free PMC Article

Recent systematic reviews

Stanich PP, Pilarski R, Rock J, Frankel WL, El-Dika S, Meyer MM
World J Gastroenterol 2014 Feb 21;20(7):1833-8. doi: 10.3748/wjg.v20.i7.1833. PMID: 24587660Free PMC Article

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