About the Journal | Editorial Board | Instructions to Contributors | Submission & Review | Advertise with Us | Subscribe to E- Alerts
Sitemap | Feedback
Advanced search
Journal of Case Reports
Maffucci´s Syndrome: A Rare Diagnosis
Ada Paloma Soto Brambila1,2, Ingrid Patricia Dávalos Rodríguez1,2, Rodrigo Santoscoy Valencia3
1Division of Genetics, Center of Biomedical Research of the West, Mexican Institute of Social Security. Guadalajara, Mexico; 2University Center of Health Sciences, University of Guadalajara. Guadalajara, Mexico. 3Autonomous University of Guadalajara. Guadalajara, México.
Corresponding Author:
Dr. Rodrigo Santoscoy Valencia
Email: rodrigo_santoscoy@hotmail.com 
Received: 11-OCT-2017 Accepted: 10-DEC-2017 Published Online: 30-DEC-2017
DOI: http://dx.doi.org/10.17659/01.2017.0112
Abstract
Background: Maffucci´s syndrome is a rare genetic disorder that affects the skeletal and venous systems. It is also known as dyschondrodysplasia with hemangiomas, enchondromatosis with multiple cavernous hemangiomas, Kast syndrome, hemangiomatosis chondrodystrophica, and enchondromatosis Spranger type II. There have been only reported less than 200 cases in the world. Case Report: This case presents a 25-year-old male with malformations-deformations of the skeletal and venous systems: upper limbs with limbs asymmetry, shortening of the ulna with radius arching. Lower limbs examination showed, varus or valgus angulation of the knee and deformities of the ankle, adequate sensitivity, strength, trophic, without paresis, paresthesias, myalgias, normal preserved ROTS in 4 limbs. Conclusion: To diagnose Maffucci´s syndrome it is essential to perform a thorough medical history, clinical and radiological examination. There are genetics analysis that help the diagnosis but are still under study. Management entails a very strict follow-up and careful examination and monitoring for malignant degenerations.
Keywords : Enchondromatosis, Hemangioma, Knee Joint, Myalgia, Paresis, Ulna.
Article Options
FULL TEXT
ABSTRACT
PDF
PRINTER FRIENDLY VERSION
Search PubMed for
Search Google Scholar for
Article Statistics
Bookmark and Share