PTEN Hamartoma Tumor Syndrome

PTEN Hamartoma Tumor Syndrome

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Bone, Muscle, & Joint
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Contributed byMaulik P. Purohit MD MPHOct 27, 2020

The topic PTEN Hamartoma Tumor Syndrome you are seeking is a synonym, or alternative name, or is closely related to the medical condition Ruvalcaba Syndrome.

Quick Summary:

  • Ruvalcaba Syndrome or Bannayan-Ruvalcaba-Riley Syndrome (BRRS) is a congenital genetic  condition characterized by macrosomia (abnormally large size at birth), macrocephaly (abnormally enlarged head), scaphocephaly (narrow and long head), mild retardation, multiple non-cancerous tumors and tumor-like growths (called hamartomas), short stature, craniofacial abnormalities (abnormalities of brain and face), and freckles on the penis and vulva
  • The symptoms can either be present at birth or shows up during early childhood. The incidence of Ruvalcaba Syndrome is very rare. It is inherited in an autosomal dominant pattern (only one copy of mutated gene is required to develop this condition)
  • Development of the following conditions are also commonly seen in those with Bannayan-Ruvalcaba-Riley Syndrome:
    • Hamartomas (benign growth) in the intestines
    • Fatty superficial tumors (lipomas and angiolipomas)
    • Hemangiomas (benign blood vessel tumors)
    • Risk of developing certain cancers            
  • Often symptomatic treatment and supportive management of the condition is undertaken by a team of medical specialists. The prognosis is dependent upon a variety of factors, but is generally grim

Please find comprehensive information on Ruvalcaba Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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