A case of Proteus syndrome is presented, in which severe hemihypertrophy of the left trunk and left lower extremity, scoliosis, endometriosis and huge bizarre-shaped body tumors were observed. Up to 22.6 kg of tumorous tissue was excised. This syndrome was first described in 1983. The name Proteus comes from a Greek mythical sea god who was able to change his body form freely. This syndrome has numerous features including hemihypertrophy, macrodactyly, various subcutaneous masses, scoliosis and other minor abnormalities. Although diagnostic criteria have been established for Proteus syndrome, which is very difficult to differentiate from other congenital hamartomatous syndromes, more case reports are needed to define such a rare disorder. Our patient is the 6th Japanese case in the English literature.
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Article Synopsis
- Proteus syndrome is a rare condition that causes overgrowth in limbs and organs, with some patients experiencing significant foot enlargement referred to as megafoot, leading to mobility and cosmetic challenges.
- Three patients underwent debulking surgery to address megafoot, resulting in improved mobility and function, although one patient experienced a recurrence after five years.
- Early surgical intervention showed better outcomes, as patients reported being able to wear shoes and walk comfortably post-surgery, despite ongoing debate in the literature regarding treatment strategies for Proteus syndrome.
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