Multiple Enchondromas Research Articles

Multiple hereditary exostoses and enchondromatosis.

Multiple hereditary exostoses (MHE) and enchondromatosis are rare multifocal benign disorders usually causing skeletal deformities appearing already in childhood. MHE is a dominant autosomal inherited disorder characterized by multiple osteochondromas (exostoses) growing outward from the metaphyses of long bones as well as from flat bones. They may cause reduced joint motion and pain due to tendon, muscle, and nerve compression. Enchondromatosis (or Ollier's disease) is a noninherited disorder characterized by the presence of multiple intraosseous enchondromas located asymmetrically in the skeleton and with a wide variation regarding location, size, and number ranging from the involvement of a single hand to the involvement of the entire skeleton. It can occur together with soft-tissue hemangiomas in Maffucci's syndrome. Clinical problems caused by the enchondromas are mainly related to skeletal deformities causing malalignment and restricted motion of joint. In both disorders, there is a risk of malignant transformation as well as secondary degenerative joint changes.

Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature.

Ollier disease (OD) and Maffucci syndrome (MS) are characterized by multiple enchondromas. Patients with MS also have benign vascular overgrowths that become malignant in 8.5% of cases. OD is characterized by multiple enchondromas, typically unilateral in distribution with a predilection for the appendicular skeleton. MS is characterized by multiple enchondromas bilaterally distributed in most of the cases. Both disorders feature multiple swellings on the extremity, deformity around the joints, limitations in joint mobility, scoliosis, bone shortening, leg-length discrepancy, gait disturbances, pain, loss of function, and pathological fractures. About 50% of patients with OD or MS develop a malignancy, such as chondrosarcoma, glioma, and ovarian juvenile granulosa cell tumor. To better understand the natural history of OD and MS, we reviewed 287 papers describing patients with OD and MS. We also created a survey that was distributed directly to 162 patients through Facebook. Here, we compare the review of the cases described in the literature to the survey's responses. The review of the literature showed that: the patients with OD are diagnosed at a younger age; the prevalence of chondrosarcomas among patients with OD or MS was ~30%; in four patients, vascular anomalies were identified in internal organs only; and, the prevalence of cancer among patients with OD or MS was ~50%. With these data, health care providers will better understand the natural history, severity, and prognosis of these diseases and the prevalence of malignancies in these patients. Here, we recommend new guidelines for the care of patients with OD and MS.

Maffucci syndrome with multiple soft-tissue hemangiomas: A rare case report

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. Here, we report the case of a 30-year-old male who presented with multiple soft, compressible swellings present on the back and right feet for 15 years and swelling of the right knee joint with difficulty in walking for 2 years. Roentgenogram of the right foot and hand showed multiple, small radiolucent (osteolytic lesions) areas at 1st metatarsal, distal phalanges, cuneiforms, talus bones, and 1st metacarpal bone suggestive of enchondromas. Doppler study showed venous malformation. Computed tomography (CT) scan of the right lower limb extending up to mid abdomen was suggestive of Maffucci syndrome with soft-tissue hemangioma and intraosseous enchondromas in the tibia and femur. This case is being reported for its rarity. These patients have a possibility of malignant transformation in about 30% of cases thus requiring early detection and management if required.

Case Report: Renal impairment and bilateral cataracts in a patient with Maffucci syndrome

Maffucci syndrome is a sporadic, non-hereditary condition that is characterized by the presence of multiple skeletal and vascular lesions. We present the case of a 37-year-old man who complained of multiple swellings on the hands, face and wrists affecting the quality of his life. Bilateral cataract and renal impairment were two other features identified in our patient. Renal impairment was likely due to renal vascular malformation, as all other causes of renal compromise were ruled out. Radiographic images showed multiple radiolucent areas in both hands. Multiple enchondromas with pathologic confirmation of skin lesions as cavernous haemangiomas confirmed the diagnosis of Maffucci syndrome in our patient. The patient was referred to the orthopaedic department for osteotomy. Currently, the patient is on dialysis and no other complications have been observed in follow-up visits. This is the first report of Maffucci syndrome which discusses renal involvement. Regular screening of renal functions in patients with Maffucci syndrome could prevent renal complications.

Skull Base Enchondroma and Chondrosarcoma in Ollier Disease and Maffucci Syndrome

Maffucci syndrome (MS) and Ollier disease (OD) are rare diseases characterized by multiple benign enchondromas. The incidence of skull base (SB) enchondromas and the risk of malignant transformation remain unknown. Most SB lesions are asymptomatic, and surgical resection carries significant morbidity. Observation may be a reasonable strategy. We report our experience with observation of probable SB enchondromas in MS/OD patients. Retrospective review of OD/MS patients with cranial imaging between 1995 and 2018 at 1 institution. 14 patients were included: 3 with MS (21.4%) and 11 with OD (78.6%). The median age was 28 years (range, 11-74 years) and 57.1% were female. Extracranial chondrosarcoma was reported in 3 (21.4%) patients. Seven (50%) patients with SB enchondroma or chondrosarcoma were identified on initial imaging. In patients with SB lesions, the indications for imaging were headache (n=3), seizure (n=1), and diplopia (n=1); 2 cases were incidental findings. The most commonly involved structures were petroclival fissure (86%) and clivus (71%). Treatment included observation (6/7) and resection (1/7). Follow-up imaging was available for all SB lesions, with a mean interval of 50.7 months (range, 5-225 months) and was negative for progression in all patients. Primary SB lesions in OD/MS patients frequently present in the petroclival junction. Cranial screening and close observation should be considered in MS/OD patients, given the increased risk of intra-axial intracranial tumors, de novo chondrosarcomas, or malignant degeneration of previously known lesions. In asymptomatic patients, observation appears to be a safe strategy in this cohort. Further case accumulation and follow-up are required to better understand the long-term outcomes.

Distribution of Solitary and Multiple Enchondromas of the Hand.

Although some patients with enchondroma have multiple lesions, no study has investigated the distribution of lesions in patients with multiple enchondromas. This retrospective study included 118 patients with enchondroma of the hand. The incidence and characteristic feature of multiple enchondromas of the hand were investigated. Four patients (3.4%) had multiple enchondromas. In all the patients with multiple enchondromas, the lesions occurred in the middle phalanx, proximal phalanx, and metacarpal bone in the same digital ray. The development of the hand rapidly progresses from intrauterine day 33 to day 54. The digital rays are evident on intrauterine day 41, and separation of the distal phalanx, middle phalanx, proximal phalanx, and metacarpal bone is completed until intrauterine day 54. The successive occurrence of multiple enchondroma lesions in the same digital ray in all four cases suggests that the occurrence of lesions preceded the separation of the hand bones and the lesions were divided during the development of these bones.

Maffucci's syndrome: A rare case report with unusual location

Maffucci's syndrome is a rare nonhereditary syndrome characterized by multiple enchondromas and hemangiomas, which is commonly observed over hands and feet. We are presenting a rare case of Maffucci's syndrome in a 13-year-old female with hemangiomas situated over the presternal area, which is an unusual area of involvement.

Multiple Enchondromas of the Hand in Children: Long-Term Follow-Up of Mean 15.4 Years.

Multiple enchodromatosis of bone, termed Ollier's disease, or Maffucci syndrome when associated with hemangiomas, is a rare disease that can affect the pediatric hand. This condition often causes a finger mass, deformity, pain and possible pathologic fractures, and has been associated with malignant transformation to chondrosarcoma. The aim of our study is to describe the long-term sequela of multiple enchondromatosis of the hand in the pediatric population, specifically the rates of malignant transformation, tumor recurrence, rates of pathologic fracture, and phalangeal growth arrest. We examined 15 pediatric patients who were treated in our institute with a total of 127 phalanges and metacarpals lesions. Only patients with follow-up of at least 4 years were included. We retrospectively reviewed patients' chart and hand radiograph for symptoms including pathologic fractures, indications for surgery, and postoperative complications including tumor recurrence, and malignant transformation. We assessed phalangeal growth arrest with radiographs and normalized phalangeal growth charts. Mean age of diagnosis was 5.8 years and mean follow-up time was 15.4 years. Pathologic fractures were common at 46% of pediatric patients, but ceased to occur once reaching adulthood. Outcomes of pathologic fractures were excellent, regardless of treatment. Malignant transformation occurred in 1 patient and did not occur during childhood. A total of 80% of patients and 29% of lesions underwent surgical treatment of curettage and bone graft for the lesion, yet recurrence was common and affected 33% of treated patients. Phalangeal growth arrest was the most common long-term sequela and affected 11% of phalanxes and metacarpals. This sequela was significantly more prevalent in patients who had surgical excision of the tumor. Our findings reassure that malignant transformation of enchodromatosis of the hand is unlikely in the pediatric population. Pathologic fracture is common, but has excellent outcomes. When considering surgery, parents should be counseled about the possibility of phalangeal growth arrest and recurrence of the lesion. Level IV-therapeutic.

Management of Facial Alterations in Ollier Disease

Ollier disease, a rare nonhereditary skeletal disorder (1/100,000), is characterized by the occurrence of multiple enchondromas especially in the hands and feet, often of unilateral predominance. The diagnosis is based on clinical and conventional radiologic evaluations. A wait- and -see policy is justified for its treatment because of the risk of chondrosarcoma development. A 42-year-old woman previously diagnosed with Ollier disease, presented with a growth defect on the left side of the face, which disturbed her social life. Computed tomography and radiography assessments demonstrated multiple radiolucent expansive lesions, one on the left mandible and several in the humerus, hand bones, pelvis, and femur. Incisional biopsy was performed in the mandibular lesion. A histopathologic diagnosis of benign fibro-osseous lesion was made. Osteoplastic surgery using an intraoral approach was conducted to improve facial aesthetics. The patient is under outpatient care to evaluate any possible malignant transformation. The prognosis is difficult to assess. Support: FAPEMIG.

Maffucci Syndrome with Clival Enchondroma in Nasopharynx: A Case Report.

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 21years-old male complain of right sided nasal obstruction for 10months, 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 36mm in 30mm 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.

Maffucci’s Syndrome –a Case Report of Rare Connective Tissue Disorder

<p>Maffucci’s syndrome comprises of multiple venous malformations in combination with dyschondroplasia and a variety of cutaneous, vascular, chondro-osseous and other benign and malignant mesodermal growths. This report describes the case of a 20 -year-male patient with a clinical diagnosis of Maffucci syndrome with multiple lobulated sof tissue swelling with phleboliths in left upper and lower limbs. Significant findings were presence of multiple haemangiomas, enchondromas and pathological fractures- those were evaluated by X-ray, skeletal scintigraphy and ultrasound. Skeletal scintigraphy play an important role to see the extent of the disease.Early detection and surgical management of these tumors form the basis of its treatment and desirable outcome.</p><p>Bangladesh J. Nuclear Med. 20(1): 67-69, January 2017</p>

Radiographic features of Ollier\u2019s disease \u2013 two case reports

BackgroundOllier’s disease is a non-hereditary, benign bone tumor which is usually characterized by presence of multiple radiolucent lesions (enchondromas) in the metaphysis of long bones with unilateral predominance. The disease is a rare clinical entity with 1/100000 occurrence in early childhood. Patients mostly present with multiple hard swellings and deformity of the tubular bones specially hands and feet with leg discrepancy and pathologic fractures.Case presentationWe present two cases of Ollier’s disease in a 13 years old female and 8 years old boy which had no specific symptoms. The girl had multiple hard swellings and deformity in the fingers of both hands and left toes with left leg deformity and discrepancy. Her plain radiographs demonstrated multiple expansile enchondromas in the phalanges of hands, left toes and metaphyses of upper humeri as well as left leg bones. The enchondromas were also noted in the left iliac bone and anterior end of ribs. The boy had bowing deformity and shortage of left leg with multiple enchondromas in the metaphyses of left femur, left tibia and fibula as well as left iliac bone in his radiographic images.ConclusionOllier’s disease is usually diagnosed by clinical signs and typical location of enchondromas across skeleton in conventional radiography. It usually does not need specific treatment. Well understanding of the clinical manifestation and radiographic features can prevent unnecessary application of other imaging modalities; while other diagnostic imaging modalities like MRI, ultrasound and scintigraphy can be used in complicated and painful conditions.

Sclerosing angiomatoid nodular transformation of the spleen in a patient with Maffucci syndrome: a case report and review of literature

BackgroundMaffucci 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 presentationWe 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.ConclusionsThis 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.

Long term oncologic surveillance in Maffucci syndrome: A case report

Abstract Maffucci syndrome is a rare disorder of bone and soft tissue characterized by multiple enchondromas and hemangiomas. Patients with this disorder are at significantly increased risk for malignant transformation of the lesions; of particular note are chondrosarcomas, gliomas, ovarian tumors and other sarcomas. Additionally, patients are affected by skeletal malformations including limb length discrepancies and deformities of the hands, feet and upper and lower limbs. Because of the rarity of the condition, there is currently no consensus for long-term screening of these patients. We suggest a regimen including annual surveillance using advanced imaging and routine physical examination.

The association of enchondromatosis with malignant transformed chondrosarcoma and ovarian juvenile granulosa cell tumor (Ollier disease)

ObjectiveOvarian juvenile granulosa cell tumor has an interesting association with multiple enchondromatosis (Ollier disease and Maffucci syndrome) and should be considered a leading diagnosis when an ovarian mass is found in young patients with these conditions. Besides the association with nonskeletal malignancies, there is a high risk of malignant transformation of enchondroma in chondrosarcoma as was also the case in this instance. Case ReportThe report uses multiple images to document the representative and characteristic markers of multiple enchondromas in a 22-year-old patient with Ollier disease complicated by malignant transformation of chondrosarcoma and in whom the disease is associated with ovarian juvenile granulosa cell tumor of the right ovary. ConclusionIt is important to recognize that when the female patient presents with enchondromatosis and a large unilateral multilocular-solid ovarian mass, the specific diagnosis of granulosa cell tumor can be made with high accuracy.

Sarcomas With Complex Genetic Changes

Sarcomas With Complex Genetic Changes

Maffucci Syndrome with Nasal Enchondroma: A Rare Entity

ABSTRACT 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.

Ollier disease with anaplastic astrocytoma: A review of the literature and a unique case.

Background:Ollier disease is a rare, nonfamilial disorder that primary affects the long bones and cartilage of joints with multiple enchondromas. It is associated with a higher risk of central nervous system (CNS) malignancies; although the incidence is unknown.Case Description:Here, we present the case of a 55-year-old woman who developed an anaplastic astrocytoma with a known diagnosis of Ollier disease with a survival time of over 3 years.Conclusion:This report draws attention to the rarity of this disease and the paucity of information regarding CNS involvement in Ollier disease, as well as reviews the current literature.

MR Features of Multiple Enchondromas with Associated Chondrosarcoma in the Lower Extremities

MR Features of Multiple Enchondromas with Associated Chondrosarcoma in the Lower Extremities

Maffucci syndrome: Anaesthetic management and review of literature

AbstractMaffucci syndrome is a rare, nonhereditary disorder manifesting early in life. The syndrome is characterized by presence of multiple hemangiomas and enchondromas mostly affecting the extremities. Haemangiomas are usually cutaneous, but may sometimes be visceral as well. Enchondromas commonly affect the long bones of the extremities. However, other areas including skull, ribs, vertebrae, larynx and trachea may also be involved. The presence of these lesions in the trachea and/or oropharynx may compromise the airway and cause difficulty during tracheal intubation. Complete airway examination and investigation is important to rule out any such lesion in a patient of Maffucci syndrome before planning for general anaesthesia with tracheal intubation.