Bannayan-Riley-Ruvalcaba syndrome

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Template:Bannayan-Riley-Ruvalcaba syndrome Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Synonyms and keywords: BRRS, Ruvalcaba-Myhre syndrome, Ruvalcaba-Myhre-Smith syndrome, Riley-Smith syndrome, Bannayan syndrome, or Bannayan-Zonana syndrome

Overview

Bannayan-Riley-Ruvalcaba syndrome [1]

(BRRS)/Bannayan-Zonana syndrome is a rare hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas. Bannayan-Riley-Ruvalcaba syndrome (BRRS) is transmitted in autosomal dominant pattern. Bannayan-Riley-Ruvalcaba syndrome (BRRS) was first discovered by Ruvalcaba, in 1980. It is understood that Bannayan-Riley-Ruvalcaba syndrome (BRRS) is caused by genetic mutations. The symptoms of BRRS usually develop in the first decade of life. The prognosis is unknown for Bannayan-Riley-Ruvalcaba syndrome (BRRS). Bannayan-Riley-Ruvalcaba syndrome must be differentiated from CLOVE syndromes. The incidence of Bannayan-Riley-Ruvalcaba syndrome is approximately 1 per 200,000 individuals worldwide. Head MRI may be helpful in the diagnosis of Bannayan-Riley-Ruvalcaba syndrome. There is no treatment for Bannayan-Riley-Ruvalcaba syndrome.

Historical Perspective

  • Bannayan-Riley-Ruvalcaba syndrome (BRRS) was first discovered by Ruvalcaba, in 1980.[2]
  • Bannayan-Riley-Ruvalcaba syndrome was also mentioned with different names previously by different doctors thinking that they were describing a new condition and the names are as follows:
    • Ruvalcaba-Myhre syndrome
    • Riley-Smith syndrome
    • Bannayan-Zonana syndrome

Classification

  • There is no established system for the classification of Bannayan-Riley-Ruvalcaba syndrome (BRRS) .

Pathophysiologya

Causes

PTEN Gene
PTEN Gene[10]

Genetic Cause

Differentiating Bannayan-Riley-Ruvalcaba syndrome from Other Diseases

Epidemiology and Demographics

Incidence

  • The incidence of Bannayan-Riley-Ruvalcaba syndrome is approximately 1 per 200,000 individuals worldwide.[21][22]

Prevalence

  • The prevalence of PTEN mutations Bannayan-Riley-Ruvalcaba syndrome is approximately 65%.

Age

  • Bannayan-Riley-Ruvalcaba syndrome commonly affects individuals of younger age.[23][24]
  • The median age for Bannayan-Riley-Ruvalcaba syndrome diagnosis is as young as five years.

Risk Factors

Screening

  • There is insufficient evidence to recommend routine screening for Bannayan-Riley-Ruvalcaba syndrome (BRRS).

Natural History, Complications, and Prognosis

Natural History

Complications

Prognosis

  • The prognosis is unknown for Bannayan-Riley-Ruvalcaba syndrome (BRRS).

Diagnosis

Diagnostic Criteria

Pilarski et al diagnostic criteria:

Major criteria[33]

Minor criteria[34]

History and Symptoms

The most common symptoms of Bannayan-Riley-Ruvalcaba syndrome (BRRS) include head enlargement, intellectual disability, pigmented skin lesions on penis, and eye and ear morphology abnormality.

Physical Examination

Lipomas in BRRS
Lipomas in BRRS Case courtesy Gabriela Maria Abreu Gontijo et al [35]
Macrocephaly in BRRS
Macrocephaly in BRRS Case courtesy Valentina Peiretti et al[36]
Thyroid in BRRS
Thyroid involvement in BRRS Case courtesy Valentina Peiretti et al[37]
Speckled penis
Speckled penis in BRRS Case courtesy of Corrado Romano et al<[38]

Skin

HEENT

Neck

Abdomen

Genitourinary

Neuromuscular

Laboratory Findings

Mutation testing[49][50]

Imaging Findings

Other Diagnostic Studies

  • There are no other diagnostic studies associated with Bannayan-Riley-Ruvalcaba syndrome.

Treatment

Medical Therapy

  • There is no treatment for Bannayan-Riley-Ruvalcaba syndrome; the mainstay of therapy is treating the symptoms present in the individual like:

Mucocutaneous Manifestations

Surgery

  • Surgery is not the mainstay of treatment for Bannayan-Riley-Ruvalcaba syndrome.

Prevention

References

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  2. Lee SH, Ryoo E, Tchah H (March 2017). "Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report". Pediatr Gastroenterol Hepatol Nutr. 20 (1): 65–70. doi:10.5223/pghn.2017.20.1.65. PMC 5385310. PMID 28401059.
  3. Lachlan KL, Lucassen AM, Bunyan D, Temple IK (September 2007). "Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers". J. Med. Genet. 44 (9): 579–85. doi:10.1136/jmg.2007.049981. PMC 2597943. PMID 17526800.
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  5. Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW (August 2011). "Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features". J. Med. Genet. 48 (8): 505–12. doi:10.1136/jmg.2011.088807. PMID 21659347.
  6. Lachlan KL, Lucassen AM, Bunyan D, Temple IK (September 2007). "Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers". J. Med. Genet. 44 (9): 579–85. doi:10.1136/jmg.2007.049981. PMC 2597943. PMID 17526800.
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  26. Laury AR, Bongiovanni M, Tille JC, Kozakewich H, Nosé V (February 2011). "Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity". Thyroid. 21 (2): 135–44. doi:10.1089/thy.2010.0226. PMID 21190448.
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  35. "Lipomas in Bannayan-Riley-Ruvalcaba syndrome".
  36. "Macrocephaly in BRRS".
  37. "Thyroid".
  38. "Speckled penis in a patient affected by Bannayan-Riley-Ruvalcaba syndrome".
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  43. Laury AR, Bongiovanni M, Tille JC, Kozakewich H, Nosé V (February 2011). "Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity". Thyroid. 21 (2): 135–44. doi:10.1089/thy.2010.0226. PMID 21190448.
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