We report the case of a 24-year-old man who presented with symptomatic vascular intramuscular lesions of the left forearm and right calf, macrocephaly, post Hashimoto thyroiditis, a multicystic intracranial paratrigonal lesion, lentiginous hyperpigmented [zora.uzh.ch]

Prognosis The prognosis is unknown and is dependent on initial presentation and likely genotype. The documents contained in this web site are presented for information purposes only. [orpha.net]

Dysmorphy as well as delayed neuropsychomotor development can also be present.[1][5] 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 [en.wikipedia.org]

• Chronic Diarrhea

  The gastrointestinal tract is involved in 35% to 40% of the patients, with the development of intestinal hamartomatous polyps that can cause anemia, chronic diarrhea, and small bowel intussusception (5). [journals.lww.com]

• Facial Papule

  Biopsy specimens of facial papules demonstrated the histological features of both syringomas and trichilemmomas. [jamanetwork.com]

• Muscle Hypotonia

  muscle hypotonia, lipid storage myopathy, and delayed psychomotor development, have been observed in BRRS patients.1,2,4 Muscle weakness and hypotonia cause affected BRRS infants to appear “floppy” and with delayed development of motor skills. [nature.com]

• Long Arm

  In about 60% of all cases of Bannayan-Riley-Ruvalcaba syndrome they have identified mutations in the PTEN gene, located on the long arm of chromosome 10 (10q23.3). The protein encoded from PTEN is a tumor suppressor. [ivami.com]

Germline variants identified in ACMG non-cancer genes in CS/CS-like and BRRS. aPatients harboring these variants did not undergo related medical workup in our clinic, and pedigree did not indicate a family history of the associated syndromes. [journals.plos.org]

• Karyotype Abnormal

  The aim of this study was to precisely map loss of DNA from 2 patients with intestinal juvenile polyposis and karyotypic abnormalities involving chromosome 10q. [gastrojournal.org]

Correct diagnosis has a relevant impact on patients, as the risk of malignancies is high and treatment options are limited. [zora.uzh.ch]

Still, it can be suspected based on: The presence of characteristic symptoms Genetic testing for PTEN gene mutations What are the treatments for BRRS? Treatment caters to the affected individual. [patientworthy.com]

Management and treatment Management and treatment are multidisciplinary. Monitoring for symptoms of gastrointestinal hamartomatous polyposis is important as they can be more severe than those seen in CS. [orpha.net]

The treatment of patients with BRRS is usually symptomatic. Gastrointestinal polyps may require removal, and surveillance of the gastrointestinal tract should be considered. [medigoo.com]

What are the treatment options for PTEN hamartoma tumor syndrome? Treatment for PHTS is centered on treating the symptoms and careful screening for cancer. Children with PTEN mutations should have cancer screenings at the time of diagnosis. [childrenshospital.org]

Prognosis The prognosis is unknown and is dependent on initial presentation and likely genotype. The documents contained in this web site are presented for information purposes only. [orpha.net]

The prognosis is unknown for Bannayan-Riley-Ruvalcaba syndrome (BRRS). [wikidoc.org]

SDHB-D, AKT1, PIK3CA and KLLN) have not been formally studied in BRRS, it is not clear if they are also etiologic for non-PTEN-related BRRS. [orpha.net]

Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity.Am J Med Genet. 1990; 35: 291-292 Hayashi Y. Ohi R. Tomita Y. et al. [jpedsurg.org]

Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity. Am J Med Genet 1990; 35(2): 291–2. Article PubMed Google Scholar Zigman AF, Lavine JE, Jones MC et al. [link.springer.com]

Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity. Am J Med Genet 1990;35:291–92 3. Gorlin RJ, Cohen MM Jr, Condon LM, Burke BA. Bannayan-Riley-Ruvalcaba syndrome. [journals.lww.com]

However, despite all efforts towards seeking the genetic etiology for PTEN mutation negative CS/CS-like and BRRS, there remain half with “missing heritability.” [journals.plos.org]

Summary Epidemiology The prevalence is unknown, but Bannayan-Riley-Ruvalcaba syndrome (BRRS) is generally considered as a rare disease. [orpha.net]

Epidemiology Although it appears to be rare, the incidence of Bannayan-Riley-Ruvalcaba syndrome is unknown. Several hundred incidents have been documented in medical journals. [news-medical.net]

[…] syndrome must be differentiated from CLOVE syndrome which include the following:[17][18][19][20] Congenital lipomatous overgrowth Vascular malformations Epidermal nevi and Cowden syndrome Proteus syndrome Lhermitte-Duclos syndrome Birt-Hogg-Dube syndrome Epidemiology [wikidoc.org]

Emerging roles in physiology and pathophysiology. Circ. Res 80, 290–294 (1997). Article CAS PubMed Google Scholar Punetha, J. & Hoffman, E. P. Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar. Circ. [nature.com]

Physiotherapy to prevent progression of the contractures should be initiated meanwhile. [zora.uzh.ch]

Some women at increased risk for breast cancer consider prophylactic mastectomy (removal of the breasts to prevent cancer). Thyroid cancer screening. [my.clevelandclinic.org]

All these genetic changes prevent the enzyme PTEN regulate cell proliferation effectively, which can lead to uncontrolled cell growth and formation of hamartomas and other tumor types. [ivami.com]

The protein produced from the PTEN gene is a tumor suppressor, which means that it normally prevents cells from growing and dividing (proliferating) too rapidly or in an uncontrolled way. [encyclopedia.pub]

For some women with dense breast tissue that can make it harder to detect breast cancers, preventative mastectomy may be an option. [medigoo.com]