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MediSur

versión On-line ISSN 1727-897X

Resumen

PEREZ SALOMóN, Edelmis et al. Proteus Syndrome. A Case Report. Medisur [online]. 2013, vol.11, n.5, pp. 563-568. ISSN 1727-897X.

Proteus syndrome is a rare and complex genetic disorder characterized by sporadic occurrence, mosaic distribution and gradual evolution of hamartomatous lesions, affecting most of the mesodermal tissues. Diagnosis is performed on clinical basis and according to well-established criteria. A typical case of an 8-year-old schoolchild with clinical manifestations consistent with the diagnosis of this syndrome is presented. A clinical study and description of the body habitus was conducted. The main distinctive features were: progressive hemihypertrophy of the gluteal region, left leg and foot, flat hemangioma and dilatation of hypogastric veins in the abdomen, dorso-lumbar scoliosis and marked dorsal kyphosis, increased adipose tissue in the back, cerebriform aspect of the skin of the sole of the left foot as well as hyperostosis of the mastoid bone. This case is presented due to the rarity of the entity.

Palabras clave : Proteus syndrome; child; case reports.

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