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VOLUME 9 , ISSUE 2 ( May-August, 2016 ) > List of Articles


Maffucci Syndrome with Nasal Enchondroma: A Rare Entity

Arpit Sharma, JP Dabholkar, Shruti Bansal

Keywords : Maffucci syndrome,Mesodermal dysplasia,Nasal enchondromas

Citation Information : Sharma A, Dabholkar J, Bansal S. Maffucci Syndrome with Nasal Enchondroma: A Rare Entity. Clin Rhinol An Int J 2016; 9 (2):94-97.

DOI: 10.5005/jp-journals-10013-1278

Published Online: 01-08-2016

Copyright Statement:  Copyright © 2016; The Author(s).



Maffucci syndrome is a congenital nonhereditary disorder in which patients develop multiple enchondromas and cutaneous, visceral, or soft tissue hemangiomas. Less than 200 cases of Maffucci syndrome have been published in the English literature. These lesions most commonly occur in the limb bones, especially in the hands and feet. Rarely, patients of Maffucci syndrome may present with mesodermal dysplasia involving head and neck region with nasal septum enchondromas reported only in two cases till now.


To report a rare case of nasal enchondroma in a patient of Maffucci syndrome.

Case description

A 15-year-old girl diagnosed with Maffucci syndrome 2 years back was referred to our ENT department with symptoms of left-sided nasal obstruction and epiphora. On thorough clinical examination and proper investigation, she was diagnosed to have nasal enchondroma. She successfully underwent endonasal endoscopic resection of nasal enchondroma.


Maffucci syndrome is a rare entity characterized by multiple enchondromas and hemangiomas, especially in the extremities. A manifestation in the head and neck region is rare and cartilaginous tumors of nasal septum are even rarer; however, differential of nasal cartilaginous tumors should be borne in mind in patients with underlying mesodermal dysplastic disorders like Maffucci syndrome.

Clinical significance

Patients of Maffucci syndrome with enchondromas are at high risk of undergoing malignant transformation, especially chondrosarcomas. These patients need vigilant and close follow-up. Despite their rarity, chondromas should be taken into consideration in the differential diagnosis of nasal tumors, especially those arising from the nasal septum.

How to cite this article

Bansal S, Sharma A, Dabholkar JP. Maffucci Syndrome with Nasal Enchondroma: A Rare Entity. Clin Rhinol An Int J 2016;9(2):94-97.

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  1. Incidence, predictive factors, and prognosis of chondrosarcoma in patients with Ollier disease and Maffucci syndrome: an international multicenter study of 161 patients. Oncologist 2011;16(12):1771-1779.
  2. Maffucci syndrome with unilateral limb: a case report and review of the literature. Chin J Cancer Res 2013 Apr;25(2);254-258.
  3. Maffucci's syndrome (dyschondroplasia with hemangiomata). Q J Med 1942;35:203-228.
  4. Enchondroma of the nasal septum due to Ollier disease: a case report and review of the literature. Head Neck 2015 Mar;37(3):E30-E33.
  5. Head and neck manifestations of Maffucci's syndrome: chondrosarcoma of the nasal septum. Am J Otolaryngol 1995 Jul-Aug;16(4):272-275.
  6. Vascular malformations. Part II: associated syndromes. J Am Acad Dermatol 2007 Apr;56(4):541-564.
  7. Somatic mosaic IDH1 or IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet 2012 Nov 6;43(12):1256-1261.
  8. Septal nasal chondroma -a case report. Otolaryngol Pol 2007;61(6):1021-1023.
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