• Maxillofacial Plastic and Reconstructive Surgery
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• 제33권6호
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• pp.540-548
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• 2011

Proteus syndrome is a congenital hamartomatous malformation that is characterized by a wide range of deformities, including craniofacial deformities. Proteus syndrome features partial gigantism and asymmetry of the limbs, plantar hyperplasia, hemangiomas, lipomas, lymphangiomas, varicosities, verrucous epidermal nevi, macrocephaly, cranial hyperostosis, and long bone overgrowth. We diagnosed Proteus syndrome in a male patient who visited our hospital with a chief complaint of limited mouth opening and report the case because we obtained a good healing outcome after treating the condition with a corrective osteotomy.

• Archives of Plastic Surgery
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• 제51권4호
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• pp.423-431
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• 2024

Proteus syndrome (PS) is an exceptionally uncommon genetic disorder that has been documented in only approximately 250 cases in the literature spanning the past four decades. It is characterized by a disproportionate, asymmetric overgrowth of all types of tissues, provoked by a somatic activating mutation in serine/threonine protein kinase 1. We report a case of PS in a two-year-old female patient with the following clinical features: unilateral overgrowth of connective tissue in the right buttock and right foot, where multiple surgeries were performed to achieve a desirable aesthetic outcome and ensure psychological comfort of the young patient. The insights provided by this case underscore the pivotal role of obtaining pleasing aesthetic outcomes in the surgical management of untreatable genetic disorders, with the aim of nurturing psychological contentment in affected children.