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Indian Journal of Otolaryngology and... Oct 2019Maffucci syndrome is an extremely rare sporadic disease, characterized by multiple enchondromas and associated with multiple hemangiomas and/or lymphangiomas. First case...
Maffucci syndrome is an extremely rare sporadic disease, characterized by multiple enchondromas and associated with multiple hemangiomas and/or lymphangiomas. First case was reported in 1881, and fewer than 200 case have been reported to date. Potential sarcomatous malignant transformation have been noticed in previous cases. This report describes the case of 21 years-old male complain of right sided nasal obstruction for 10 months, and right sided aural fullness. Examination revealed multiple asymptomatic nodules in both hands since childhood, that have not been investigated and a large nasopharyngeal mass. Computed tomography, showed a 36 mm in 30 mm diameter lesion extending from the inferior aspect of the clivus and basisphenoid into the nasopharynx, which did not seems to be highly vascular with angiogram. Incidental radiological findings of multiple bubbly lytic bony lesions. Endoscopic sinus surgery and clival lesion excision was performed. Pathology confirmed diagnosis of clival enchondroma with clinical and radiological features consistent with Maffucci syndrome. Clear etiology have not been established yet. Mutations in gene encoding parathyroid hormone receptor 1 found in 10% of enchondromatosis. Mutations in gene encoding isocitrate dehydrogenase 1 and 2 (IDH 1&2) occur in some enchondromas and spindle cell hemangiomas. Maffucci syndrome usually presents with asymmetrical distribution of multiple enchondromas. Malignant transformation is the most concerning potential sequel. Many studies have shown sarcomatous degeneration of enchondromas to chondrosarcomas in average of 25% of cases. Patient counselling and education are crucial in the management. Surgical excision usually for symptomatic patients and suspicious lesions. Nevertheless, all patient of Maffucci syndrome will require a long term follow up and surveillance for the lifelong risk of malignant transformation. Maffucci syndrome diagnosis based on clinical presentation, radiological and histopathological findings. Surgical excision offered for symptomatic patients and for suspicious lesions. Lifelong risk of sarcomatous malignant transformation necessitate a long term surveillance.
PubMed: 31742037
DOI: 10.1007/s12070-018-1463-8 -
International Journal of Clinical and... Jun 2010Enchondromatosis is a rare, heterogeneous skeletal disorder in which patients have multiple enchondromas. Enchondromas are benign hyaline cartilage forming tumors in the... (Review)
Review
Enchondromatosis is a rare, heterogeneous skeletal disorder in which patients have multiple enchondromas. Enchondromas are benign hyaline cartilage forming tumors in the medulla of metaphyseal bone. The disorder manifests itself early in childhood without any significant gender bias. Enchondromatosis encompasses several different subtypes of which Ollier disease and Maffucci syndrome are most common, while the other subtypes (metachondromatosis, genochondromatosis, spondyloenchondrodysplasia, dysspondyloenchondromatosis and cheirospondyloenchondromatosis) are extremely rare. Most subtypes are non-hereditary, while some are autosomal dominant or recessive. The gene(s) causing the different enchondromatosis syndromes are largely unknown. They should be distinguished and adequately diagnosed, not only to guide therapeutic decisions and genetic counseling, but also with respect to research into their etiology. For a longtime enchondromas have been considered a developmental disorder caused by the failure of normal endochondral bone formation. With the identification of genetic abnormalities in enchondromas however, they were being thought of as neoplasms. Active hedgehog signaling is reported to be important for enchondroma development and PTH1R mutations have been identified in approximately 10% of Ollier patients. One can therefore speculate that the gene(s) causing the different enchondromatosis subtypes are involved in hedgehog/PTH1R growth plate signaling. Adequate distinction within future studies will shed light on whether these subtypes are different ends of a spectrum caused by a single gene, or that they represent truely different diseases. We therefore review the available clinical information for all enchondromatosis subtypes and discuss the little molecular data available hinting towards their cause.
Topics: Enchondromatosis; Humans
PubMed: 20661403
DOI: No ID Found -
Indian Journal of Dermatology,... 2019Maffucci syndrome is a rare nonhereditary disorder comprising of lymphovascular malformations and multiple enchondromas, which may be associated with several internal...
Maffucci syndrome is a rare nonhereditary disorder comprising of lymphovascular malformations and multiple enchondromas, which may be associated with several internal malignancies. This report describes a new association of Maffucci syndrome with pedal synovial sarcoma. Our case is also remarkable as lymphangioma circumscriptum is the sole lymphovascular component, which has been rarely reported. The aim of this report is to generate awareness about this rare condition and also highlight the importance of screening for malignancies in this disorder.
Topics: Enchondromatosis; Humans; Male; Middle Aged; Sarcoma, Synovial
PubMed: 29667613
DOI: 10.4103/ijdvl.IJDVL_547_17 -
Medicina (Kaunas, Lithuania) May 2023: Maffucci syndrome is a rare genetic disorder associated with the development of multiple enchondromas and soft tissue cavernous hemangiomas, as well as an increased...
: Maffucci syndrome is a rare genetic disorder associated with the development of multiple enchondromas and soft tissue cavernous hemangiomas, as well as an increased risk of malignant tumors. : Here we report a case of Maffucci syndrome in a patient who presented with a giant left frontal lobe tumor. Molecular genetic analysis of the tumor revealed an isocitrate dehydrogenase (IDH) mutation p.R132H (c.395C>A) mutation in the IDH1 gene and a heterozygous duplication of the CDKN2A genes. : The presence of an IDH1 mutation is notable because this mutation is frequently seen in glial tumors and other neoplasms, and its co-occurrence with Maffucci syndrome may represent a novel risk factor for the development of gliomas. This case underscores the importance of genetic testing in patients with Maffucci syndrome who present with central nervous system tumors, as well as the need for further research to understand the relationship between IDH1 mutations and the development of gliomas in this population.
Topics: Humans; Enchondromatosis; Mutation; Astrocytoma; Genetic Testing; Isocitrate Dehydrogenase; Brain Neoplasms
PubMed: 37374260
DOI: 10.3390/medicina59061056 -
International Seminars in Surgical... Jan 2009Maffucci syndrome, a congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas, was first described in 1881, and 200 cases have been...
BACKGROUND
Maffucci syndrome, a congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas, was first described in 1881, and 200 cases have been reported in the literature since then. Its etiology is unknown, there is no predilection for race or sex, and the development of lesions usually occurs in puberty. The risk of sarcomatous transformation is about 25%.
CASE PRESENTATION
The initial investigation of the case reported here focused on the diagnosis and treatment of malignancy, and the first diagnostic hypothesis was thrombosed hemangioma. After histopathologic confirmation of soft tissue sarcoma, examinations were performed to stage the tumor and enchondromas were found in ribs. The final diagnosis was Maffucci syndrome with malignant transformation.
CONCLUSION
Treatment should aim at symptom relief and early detection of malignancies; no therapy is indicated for asymptomatic patients. As in the case reported here, bone or soft tissue lesions that grow or become painful should be biopsied.
PubMed: 19144147
DOI: 10.1186/1477-7800-6-2 -
Dermatology Online Journal Dec 2014A patient with Ollier disease presenting with onycholysis and nail dystrophy related to a subungual enchondroma is presented.
A patient with Ollier disease presenting with onycholysis and nail dystrophy related to a subungual enchondroma is presented.
Topics: Adult; Enchondromatosis; Fingers; Humans; Male; Nails; Onycholysis
PubMed: 25756487
DOI: No ID Found -
Indian Journal of Dermatology Mar 2011Maffucci's syndrome is a rare, congenital, nonhereditary, mesodermal dysplastic disease characterized by venous malformations and benign cartilaginous tumors. The...
Maffucci's syndrome is a rare, congenital, nonhereditary, mesodermal dysplastic disease characterized by venous malformations and benign cartilaginous tumors. The occurrence of endocrine tumors in Maffucci's syndrome is very rare. We report a case of Maffucci's syndrome associated with hyperparathyroidism and multinodular goiter.
PubMed: 21716549
DOI: 10.4103/0019-5154.80418 -
International Journal of Surgery Case... 2019Maffucci's syndrome is a rare congenital, non-hereditary mesodermal dysplasia characterised by multiple enchondromas and vascular lesions. To our knowledge this is the...
INTRODUCTION
Maffucci's syndrome is a rare congenital, non-hereditary mesodermal dysplasia characterised by multiple enchondromas and vascular lesions. To our knowledge this is the first report of tubular adenoma of the breast in association with Maffucci's syndrome.
PRESENTATION OF CASE
We report a 31-year-old female who presented with a large, ulcerated slow-growing painless breast mass. She had also sustained two pathological fractures during childhood as well as progressive deformity and limb shortening on the right side of the body. Skeletal survey revealed enchondromas exclusively on the right side in association with phleboliths. Excision of the breast mass was performed. Histological examination of the breast lesion revealed a diagnosis of tubular adenoma, core biopsy of the bony lesions confirmed enchondromas and a cutaneous haemangioma was excised from the abdominal wall.
DISCUSSION
Tubular adenoma of the breast is a rare benign tumour. When large they may cause ulceration leading to diagnostic and management dilemmas. Patients with Maffucci's Syndrome require lifelong surveillance for the development of malignancy.
CONCLUSION
Tubular adenomas of the breast carry no risk of malignancy. However, malignancy remains high on the differential list when the skin is ulcerated. Ulceration can also be caused by pressure necrosis in benign tumours. This diagnostic dilemma can lead to unnecessarily radical surgery.
PubMed: 31585326
DOI: 10.1016/j.ijscr.2019.09.012 -
Diagnostic Pathology Nov 2017Maffucci syndrome is a congenital, non-hereditary mesodermal dysplasia characterized by multiple enchondromas and hemangiomas. The presence of visceral vascular lesions... (Review)
Review
BACKGROUND
Maffucci syndrome is a congenital, non-hereditary mesodermal dysplasia characterized by multiple enchondromas and hemangiomas. The presence of visceral vascular lesions in this syndrome is exceedingly rare.
CASE PRESENTATION
We report a 26-year-old female who was diagnosed with Maffucci syndrome along with sclerosing angiomatoid nodular transformation (SANT) of the spleen. The patient underwent a laparoscopic splenectomy. Immunostaining of the excised specimen revealed 3 distinct types of vessels in the angiomatoid nodules: CD34-/CD8-/CD31+ small veins, CD34-/CD8+/CD31+ sinusoids, and CD34+/CD8-/CD31+ capillaries, leading to the diagnosis of SANT of the spleen.
CONCLUSIONS
This case reports the first patient in the literature exhibiting the features of Maffucci syndrome along with SANT of the spleen. The spleen is probably a predilection site of visceral vascular lesions in this syndrome with a proportion of 4 out of 14. An abdominal Computed Tomography (CT) scan is recommended for any cases of abdominal discomfort. Surgical excision is usually sufficient because of the relatively benign behavior of SANT, however, a more aggressive follow-up is proposed due to the high risk of malignant transformation of enchondromas and development of other neoplasms associated with this syndrome. Further studies are required to reveal its genetic basis for comprehensive prognosis evaluation and therapeutic guidance.
Topics: Adult; Cell Transformation, Neoplastic; Enchondromatosis; Female; Hemangioma; Histiocytoma, Benign Fibrous; Humans; Spleen; Splenic Neoplasms
PubMed: 29126417
DOI: 10.1186/s13000-017-0670-z -
Cancers Jul 2022Ollier disease (OD) is a rare nonhereditary type of dyschondroplasia characterized by multiple enchondromas, with typical onset in the first decade of life. Surgery is... (Review)
Review
Ollier disease (OD) is a rare nonhereditary type of dyschondroplasia characterized by multiple enchondromas, with typical onset in the first decade of life. Surgery is the only curative treatment for primary disease and its complications. Patients with OD are at risk of malignant transformation of enchondromas and of occurrence of other neoplasms. A wide literature review disclosed thirty cases of glioma associated with OD, most of them belonging to the pre-molecular era. Our own case was also included. Demographic, clinical, pathologic, molecular, management, and outcome data were analyzed and compared to those of sporadic gliomas. Gliomas associated with OD more frequently occur at younger age, present higher rates of multicentric lesions (49%), brainstem localizations (29%), and significantly lower rates of glioblastomas (7%) histotype. The IDH1 R132H mutation was detected in 80% of gliomas of OD patients and simultaneously in enchondromas and gliomas in 100% of cases. The molecular data suggest a higher risk of occurrence of glioma in patients with enchondromas harboring the IDH1 R132H mutation than those with the IDH1 R132C mutation. Thus, we suggest considering the IDH1 R132H mutation in enchondromas of patients with OD as a predictive risk factor of occurrence of glioma.
PubMed: 35884525
DOI: 10.3390/cancers14143464