Proteus syndrome: presenting as a large ovarian cyst

Abstract

Abnormal huge progressive enlargement and fusion of digits with limitation of joint movements (macrodactyly, syndactyly, and arthrogryposis) are usually part of a syndromic manifestation. When associated with mosaic skeletal overgrowths, vascular malformations and internal organ cysts it could be a part of the very rare Proteus syndrome. Here we are presenting a case with macrodactyly, syndactyly, arthrogyrposis and bilateral ovarian cysts. When clinical criteria remain inconclusive the diagnosis of Proteus syndrome (PS) is established by identification of a heterozygous pathogenic variant in AKT1 gene, which here could not be done because of economical constraints.

Keywords

• macrodactyly
• syndactyly
• arthrogyrposis
• ovarian cyst
• proteus syndrome