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Melorheostosis: unusual presentation in a girl
Rocío P Mariaud-Schmidt1, Wadih Emilio Bitar, Francisco Pérez-Lamero
1División de Genética, CIBO-IMSS, Sierra Mojada 800, Col. Independencia, CP 44340, AP 1-3838 Guadalajara, Jalisco, Mexico.
Abstract:
Melorheostosis is a rare bone disease of unknown etiology. It is characterized by tense and erythematous skin, contractures and shortening of the affected limbs. Radiographs reveal hyperostosis in long bones resembling melting wax, and spotty or patchy endostic deposits in short bones. An 11-year-old girl showed, since birth, contractural deformities in the right hand without bone abnormalities. At the age of 12 months, she complained of soft tissue tightness in the right buttock. At 3 years, limitation of flexion and extension of the right knee was evident. Radiographs revealed findings typical of melorheostosis.