Proteus syndrome in a child aged 14 years and 11 months

Abstract

Proteus syndrome is an extremely rare genetic disorder with problematic genetic identification. It has been hypothesized that it is related to a lethal dominant somatic mutation occurring at a post-zygotic stage of embryonic development. Clinical presentation of the disease has much in common with a number of hereditary disorders and is frequently associated with malignancies. We present a clinical case of Proteus syndrome in a child aged 14 years and 11 months, in whom late diagnosis and late administration of specific treatment resulted in disease progression with the development of the end stage chronic renal disease. Only correct and early diagnosis allows for timely referral of a patient to a specialized hospital for adequate care.

Keywords

• proteus syndrome
• polycystic kidney disease
• renal cell carcinoma
• macrodactylia
• metacarpal bone deviation
• "senile" hand
• nevus
• multiple papillomas