UN CAZ DE MELORHEOSTOSIS ASOCIAT CU PSEUDO-SCLERODERMIE.

Melorheostosis is a rare mixed, non-familial sclerosing bony dysplasia, with uncertain etiology (OMIM:155950). Diagnosis is based on asymmetrical radiographic pathognomonic sign of "flowing wax" hyperostosis of the cortex of tubular bones. The authors present a complex clinical case with congenital scleroderma-like disease associated with clinical and radiographic manifestations unilateral bones dysplasia. The congenital presence of scleredematous skin lesions, joint contractures and muscle atrophy raised many questions concerning their appartenance to the stiff skin syndrome or to the adjacent skin and soft tissue abnormalities accompanying melorheostosis. Molecular analyse confirmes this diagnosis (LEMD3 mutation). [ABSTRACT FROM AUTHOR]