Enchondroma of the nasal septum due to Ollier disease: A case report and review of the literature

Jacobi, Christian Manuel Claus; Hiranya, Egodage Samitha; Holzmann, David; Kollias, Spyridon; Soyka, Michael

doi:10.1002/hed.23783

Cited by 8 publications

(6 citation statements)

References 12 publications

(28 reference statements)

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“…To the best of our knowledge, this was one of the rarest case of nasal enchondroma in a patient of Maffucci syndrome with only two such cases reported in the literature till now. 4,5 We got a computed tomography (CT) of paranasal sinuses PNS, which confirmed our clinical findings. The CT-PNS was suggestive of well-defined expansile nasal mass approximately 3 × 2 cm in size in left nasal cavity with epicenter in nasal septum, pushing on left lateral nasal wall with smooth pressure erosions on left half of hard palate and right-sided middle and inferior turbinate (Figs 5A and B).…”

Section: Aijcrsupporting

confidence: 77%

“…There are only two case reports that describe a primary involvement of the nasal cavities and paranasal sinuses (PNS). 4,5 It results from deregulated proliferation and differentiation of chondrocytes during physiological enchondral ossification. 3 Complications include spontaneous fracture, resulting in skeletal deformity and high risk of malignant transformation in up to 40% of the cases.…”

Section: Introductionmentioning

confidence: 99%

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Maffucci Syndrome with Nasal Enchondroma: A Rare Entity

Sharma¹,

Dabholkar²,

Bansal³

2016

An International Journal Clinical Rhinology

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Introduction 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. Aim 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. Conclusion 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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Section: Aijcrsupporting

confidence: 77%

Section: Introductionmentioning

confidence: 99%

Maffucci Syndrome with Nasal Enchondroma: A Rare Entity

Sharma¹,

Dabholkar²,

Bansal³

2016

An International Journal Clinical Rhinology

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“…Compared with Maffucci syndrome, Ollier disease lacks the clinical manifestation of hemangioma and typically presents unilaterally. Imaging studies of patients with Ollier disease have demonstrated that there is generally no venous stone in the hemangioma and previously published studies reported that the probability of chondroma malignant transformation in Ollier disease was low ( 20 , 21 ). Furthermore, Maffucci syndrome needs to be distinguished from other diseases characterized by similar vascular malformations, such as blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome and glomuvenous malformations.…”

Section: Discussionmentioning

confidence: 99%

A rare presentation of Maffucci syndrome: A case report and literature review

Wang

Qin

et al. 2023

Exp Ther Med

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Maffucci syndrome is an extremely rare disease which can manifest symptoms as early as childhood. It is estimated that there have been <300 cases reported globally; however, this number is likely to be an underestimate. Maffucci syndrome is characterized by multiple enchondromas and soft tissue hemangiomas, which can cause growth and developmental malformations. In addition to bone deformities, pathological fractures and a loss of mobility, patients with Maffucci syndrome may develop secondary central chondrosarcoma and have a higher risk of developing non-skeletal malignant tumors, such as gliomas and mesenchymal ovarian tumors. The present study provides information for clinicians about this disease through the use of imaging, physical examinations, clinical manifestations and the treatment strategy used. There is need to summarize the existing cases of this disease around the world and produce an effective framework for the diagnosis, treatment and prevention of Maffucci syndrome, in order to better understand this disease. The present study reports on a 15-year-old male diagnosed with Maffucci syndrome. . Due to the risk of malignant tumor development in the absence of effective treatment, regular and careful observation through monitoring of tumor markers and imaging studies is important for patients with Maffucci syndrome. As cases of this disease are rare and case data is limited, it is difficult to create a clear treatment plan. There is an urgent need to establish a case database of Maffucci syndrome patients and explore its pathogenesis for early diagnosis, treatment and prevention of disease.

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“…[ 1 – 3 ] They most commonly affect the long bones of the hand, followed by the flat bones, and predominantly occur in the tubular bones. [ 4 ] Enchondroma protuberans is a rare type of enchondroma, defined as an exophytic enchondroma of bones because of its location; the phalanges or metacarpal bones are the most common location involved. [ 5 , 6 ] The main difference between enchondroma protuberans and the conventional enchondroma is the protruded mass.…”

Section: Introductionmentioning

confidence: 99%

Ultrasound manifestations of enchondroma protuberans

Xiang

Cheng²,

Yang³

et al. 2018

Medicine

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Rationale:We report two rare cases of enchondroma protuberans originating from phalanxes.Patient concerns:The patients visited doctors for a palpable mass in their phalanx without any pain or discomfort.Diagnoses:Biopsy is the gold standard for the diagnosis of enchondroma protuberans. Radiographs usually provide important imaging information, while studied on the ultrasound manifestation of enchondroma protuberans are still limited. In our cases, significant information about ultrasound manifestation of enchondroma protuberans were presented. Sonographic examination of enchondroma protuberans revealed a hypoechoic mass located in and beyond the medullary cavity of bone through the interrupted bone cortex, and blood flow signals were usually not abundant.Interventions:Patients were subsequently referred for surgical removal and the masses were confirmed by following pathological examination.Outcomes:After surgery, the patients recovered well with no relapse within 2 years.Lessons:Enchondroma protuberans is a rare form of benign enchondroma. Enchondroma protuberans can present as an intramedullary hypoechoic mass extending to the surrounding soft tissue via the discontinuous cortex line on ultrasound. Ultrasound can provide important information for the diagnosis of enchondroma protuberans.

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Enchondroma of the nasal septum due to Ollier disease: A case report and review of the literature

Abstract: Surgery remains the only effective solution in removing an enchondroma and preventing the tendency toward malignant transformation.

Cited by 8 publications

References 12 publications

Maffucci Syndrome with Nasal Enchondroma: A Rare Entity

Maffucci Syndrome with Nasal Enchondroma: A Rare Entity

A rare presentation of Maffucci syndrome: A case report and literature review

Ultrasound manifestations of enchondroma protuberans

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