Bannayan-Riley-Ruvalcaba syndrome

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

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

Overview

Bannayan-Zonana syndrome is a rare hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas.

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
  • The overlap of symptoms between Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome was made in 1996.[3]

Classification

Pathophysiology

Causes

Genetic Cause


Differentiating Bannayan-Riley-Ruvalcaba syndrome from Other Diseases

Epidemiology and Demographics

Incidence

Prevalence

Age

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

  • Common complications of Bannayan-Riley-Ruvalcaba syndrome (BRRS) include:
    • Increased risk of following cancers:
      • Non-medullary thyroid cancers
      • breast cancer
      • renal cell cancer
      • granulosa cell tumor of the ovary
      • facial dysmorphology

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Skin

HEENT

Neck

Abdomen

Genitourinary

Neuromuscular

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Prevention

References

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