Proteus syndrome: presenting as a large ovarian cyst
Amita Ray, Debjani Goswami, Rahul Chatterjee, Oindrila Roy
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.