Maffucci’s syndrome. Case report and literature review

Julio Ramírez-Bollas; Alejandro Padilla-Rosciano; Andrés Romero-y Huesca; Arturo Javier Lavín-Lozano; Juan Manuel Medina-Castro; Elsa Dubón-García; Elmer René Turcios-Cadenas

2005, Number 3

Cir Cir 2005; 73 (3)

Maffucci’s syndrome. Case report and literature review

Ramírez-Bollas J, Padilla-Rosciano A, Romero-y Huesca A, Lavín-Lozano AJ, Medina-Castro JM, Dubón-García E, Turcios-Cadenas ER

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Language: Spanish
References: 19
Page: 217-221
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ABSTRACT

Maffucci syndrome is a rare, congenital disease, which is associated with the appearance of multiple enchondromas (possibility of malignant transformation in 20 to 100 %), soft tissue hemangiomas and other mesenchymatous injuries. Case 1 is a 33-year-old female who presented with multiple nodules predominantly in upper extremities. Upon examination, there was deformity in articulation and nodules on the hands, which were soft and moveable. There were bony shavings in the second and fourth fingers of the left hand (enchondromas and atypical cells associated with hemangioma esclerosante). Maffucci syndrome was diagnosed. Later, excision of subcutaneous nodules in superior extremities was performed along with excision of nodules in both hands and hypochondrium (enchondroma injuries of left hand and hypochondrium, hemangioma in right hand). There was dysarticulation of the second finger at the metacarpal level of the phalanges of the left hand (chondrosarcoma). The patient is being followed up currently. Case 2 is a 26-year-old female. The patient had a history of subcutaneous abdominal tumor, exostosis, nodules and nodule in right breast. Upon examination, a tumor was found in the right breast, exostosis of right tibia, injury to the right wrist and left thyroid nodule. A simple mastectomy and axillary dissection was performed (fibroadenoma to intracanali- cular and 14 negative lymph nodes). Later, left thyroidectomy and lumpectomy in right wrist were performed (hyperplasia to nodular thyroid and hemangioma cavernous). There was injury in the carpus of the right hand and elbow (hemangioma cavernous and synovial tissue with fibrosis and enchondroma). A diagnosis was made of Marffucci syndrome associated with mesenchy- matous tumors. The patient was in poor general health and did not survive this hospitalization.

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