Background: Proteus syndrome is characterized by a range of various manifestations. The main ones are partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly. Urinary tract abnormalities are exceptional.
Case Report: A 6 year-old boy was examined because he had presented numerous abnormalities from birth. His weight was 26 kg (+3 SD) and his height was 135 cm (+4 SD). The main abnormalities were ptosis, pterygium colli, nevi of the cervical area, plagiocephaly, frontal bossing, scoliosis, hemihypertrophy involving the skin, mucosa and bones, macrodactyly, varicose veins and lipomatosis. He underwent surgery at the age of 3 years for urinary lithiasis associated with an ureterovesical reflux on the left side, i.e. the side of hemihypertrophy.
Conclusion: This case suggests that Proteus syndrome may be an example of ectomesodermal dysembryoplasy but it requires confirmation by a report of at least one other case of obstruction of the ureteropelvic junction on the same side as hemihypertrophy.
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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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