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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 -
Brain Tumor Research and Treatment Apr 2023Cerebral chondrosarcoma metastases are rare and aggressive neoplasms. The rarity of presentation has precluded rigorous analysis of diagnosis, risk factors, treatment,...
BACKGROUND
Cerebral chondrosarcoma metastases are rare and aggressive neoplasms. The rarity of presentation has precluded rigorous analysis of diagnosis, risk factors, treatment, and survival. We analyzed every reported case through exhaustive literature review. We further present the first case with Maffucci syndrome.
METHODS
Three databases, PubMed, Embase, and Google Scholar, and crossed references were queried for cerebral chondrosarcoma metastases. Extracted variables included demographics, risk factors, tumor characteristics, interventions, and outcomes. Univariate and multivariate analyses were performed.
RESULTS
Fifty-six patients were included from 1,489 literature results. The average age at brain metastasis was 46.6±17.6 years and occurred at a median of 24±2.8 months from primary diagnosis. Primary tumor histology (dedifferentiated 5.0±1.5 months, mesenchymal 24±3.0 months, conventional 41±7.4 months, <0.05) and grade (low grade 54±16.7 months vs. high-grade 10±6.4 months, <0.001) correlated with time interval until brain metastasis. A multiple enchondromatosis syndrome occurred in 13.2% of cases. At time of brain metastases diagnosis, extracranial metastases were identified in 76.2% of cases. Median survival after the development of brain metastasis was 2.0±0.78 months with a 1-year survival of 10.0%. On regression analysis, surgery reduced brain metastasis mortality risk and radiation trended towards reduced mortality risk (surgery: hazard ratio [HR] 0.22, 95% confidence interval [CI] 0.064-0.763, =0.017; radiation: HR 0.31, 95% CI 0.091-1.072, =0.064).
CONCLUSION
We present a systematic review of cerebral chondrosarcoma metastases. Primary tumor histology and grade correlate with time until cerebral metastasis. Following cerebral metastasis, these tumors have poor prognosis and modestly benefit from surgery.
PubMed: 37151152
DOI: 10.14791/btrt.2023.0003 -
Insights Into Imaging Feb 2021Vascular lesions of the hand are common and are distinct from vascular lesions elsewhere because of the terminal vascular network in this region, the frequent hand... (Review)
Review
Vascular lesions of the hand are common and are distinct from vascular lesions elsewhere because of the terminal vascular network in this region, the frequent hand exposure to trauma and microtrauma, and the superficial location of the lesions. Vascular lesions in the hand may be secondary to local pathology, a proximal source of emboli, or systemic diseases with vascular compromise. In most cases, ischaemic conditions are investigated with Doppler ultrasonography. However, computed tomography angiography (CTA) or dynamic contrast-enhanced magnetic resonance angiography (MRA) is often necessary for treatment planning. MR imaging is frequently performed with MRA to distinguish between vascular malformations, vascular tumours, and perivascular tumours. Some vascular tumours preferentially affect the hand, such as pyogenic granulomas or spindle cell haemangiomas associated with Maffucci syndrome. Glomus tumours are the most frequent perivascular tumours of the hand. The purpose of this article is to describe the state-of-the-art acquisition protocols and illustrate the different patterns of vascular lesions and perivascular tumours of the hand.
PubMed: 33576888
DOI: 10.1186/s13244-020-00958-4 -
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 -
Hereditas Jan 2022Maffucci syndrome (MS, OMIM 166000) is an extremely unusual, nonhereditary, multisystemic disorder that is characterized with multiple enchondromas and vascular lesions,...
Maffucci syndrome (MS, OMIM 166000) is an extremely unusual, nonhereditary, multisystemic disorder that is characterized with multiple enchondromas and vascular lesions, most of which are spindle cell hemangiomas. Complications of MS, such as bone deformities and dysfunction caused by enchondromas, usually increase during childhood and adolescence. Malignant transformation of enchondromas and other malignancies are the most severe complications. MS is caused by somatic mosaic IDH1/2 mutations, 65% of which are the IDH1 p.Arg132Cys variant. Due to its rarity, there is no international consensus for the most appropriate treatment option of MS.Here, we report a case of a female patient presenting with multiple enchondromas and spindle cell hemangiomas (SCHs) on bilateral hand and feet diagnosed as MS. A detailed clinical, pathological and genetic diagnosis of MS was rendered. Integrative Genomics Viewer (IGV) visualization of next-generation sequencing (NGS) data revealed the consistent detection of the low-frequency somatic IDH1 p.Arg132Cys mutation between SCH tissue and cystic blood-derived cfDNA. This is the first successful molecular diagnosis of MS complicated with SCH utilizing minimally invasive cfDNA techniques. We suggest that cfDNA sequencing could potentially be used as an alternative, reliable and sensitive method to identify molecular information for genetic diagnosis and for future targeted therapies of MS.
Topics: Cell-Free Nucleic Acids; Enchondromatosis; Female; Hemangioma; Humans; Isocitrate Dehydrogenase; Mutation
PubMed: 35042566
DOI: 10.1186/s41065-022-00223-2 -
Journal of Orthopaedics and... Jul 2023Ollier's disease can cause severe length discrepancy of the lower extremities and deformity in children. Osteotomy and limb lengthening with external fixation can...
BACKGROUND
Ollier's disease can cause severe length discrepancy of the lower extremities and deformity in children. Osteotomy and limb lengthening with external fixation can correct the limb deformity. This study evaluated (1) whether the duration of external fixation was reduced in patients with Ollier's disease, and (2) the incidence of complications such as pin tract infection, external fixation loosening, and joint stiffness.
METHODS
Two groups were compared with respect to age, angular correction (AC), lengthening gap (LG), distraction index (DI), lengthening length (LL), lengthening length percentage (L%), lengthening index (LI), bone healing index (BHI), and external fixation index (EFI). Group 1 (Ollier's disease) comprised nine patients undergoing 11 lower limb lengthening procedures using external fixators; group 2 (control, normal lengthened bone) comprised 28 patients undergoing 29 lengthening procedures with external fixators.
RESULTS
In patients with Ollier's disease, full correction of the deformity and full restoration of length were achieved in all cases. In the femur, the mean AC (15.97° vs. 6.72°) and DI (1.11 mm/day vs. 0.78 mm/day) were significantly larger, while the LI (9.71 days/cm vs. 13.49 days/cm), BHI (27.00 days/cm vs. 42.09 days/cm), and EFI (37.86 days/cm vs. 56.97 days/cm) were all significantly shorter in group 1 than in group 2 (p < 0.05). In the tibia, the mean AC and L% were larger, while the LG, LI, BHI, and EFI were all shorter in group 1 than in group 2. There was no significant difference between the two groups in the incidence of complications.
CONCLUSION
In children with Ollier's disease, new bone formation accelerated and the healing speed of the lengthened segments was faster throughout the whole lengthening period with external fixation, and full correction of the deformity and full restoration of length could be achieved.
Topics: Osteogenesis; Humans; Male; Female; Infant; Child, Preschool; Child; Lower Extremity; Enchondromatosis; Bone Lengthening; Leg; Treatment Outcome; Femur; Tibia; Leg Length Inequality
PubMed: 37524995
DOI: 10.1186/s10195-023-00717-3 -
Cold Spring Harbor Molecular Case... Dec 2021Maffucci syndrome is a rare, highly variable somatic mosaic condition, and well-known cancer-related gain-of-function variants in either the or genes have been found...
Maffucci syndrome is a rare, highly variable somatic mosaic condition, and well-known cancer-related gain-of-function variants in either the or genes have been found in the affected tissues of most reported individuals. Features include benign enchondroma and spindle-cell hemangioma, with a recognized increased risk of various malignancies. Fewer than 200 affected individuals have been reported; therefore, accurate estimates of malignancy risk are difficult to quantify and recommended surveillance guidelines are not available. The same gain-of-function and variants are also implicated in a variety of other benign and malignant tumors. An adult male presented with several soft palpable lesions on the right upper limb. Imaging and histopathology raised the possibility of Maffucci syndrome. DNA was extracted from peripheral blood lymphocytes and tissue surgically resected from a spindle-cell hemangioma. Sanger sequencing and droplet digital polymerase chain reaction (PCR) analysis of the gene were performed. We identified a somatic mosaic c.394C > T (p.R132C) variant in exon 5 of , in DNA derived from hemangioma tissue at ∼17% variant allele fraction. This variant was absent in DNA derived from blood. This variant has been identified in the affected tissue of most reported individuals with Maffucci syndrome. Although this individual has a potentially targetable variant, and there is a recognized risk of malignant transformation in this condition, a decision was made not to intervene with an IDH1 inhibitor. The reasons and prospects for therapy in this condition are discussed.
Topics: Adult; Enchondromatosis; Hemangioma; Humans; Isocitrate Dehydrogenase; Male; Mutation
PubMed: 34588213
DOI: 10.1101/mcs.a006127 -
Radiologia 2015Chondrosarcomas are malignant bone tumors originating in cartilage. Chondrosarcoma is the third most common malignant bone tumor after multiple myeloma and osteosarcoma....
Chondrosarcomas are malignant bone tumors originating in cartilage. Chondrosarcoma is the third most common malignant bone tumor after multiple myeloma and osteosarcoma. About 75% of chondrosarcomas are primary lesions. The remaining 25% belong to special categories such as histologic variants and secondary forms. A secondary chondrosarcoma is one that appears in a pre-existing benign chondral lesion; the different types of secondary chondrosarcomas include solitary osteochondroma, multiple osteochondromatosis, enchondroma, the different types of enchondromatosis, and primary synovial chondromatosis. The incidence of this malignant transformation varies widely in function of the type of lesion. In this article, we discuss and illustrate the different types of secondary chondrosarcomas, placing special emphasis on the imaging findings that should alert to these lesions and give radiologists a key role in the diagnosis, management, and follow-up of these patients.
Topics: Bone Neoplasms; Cell Transformation, Neoplastic; Chondrosarcoma; Humans; Magnetic Resonance Imaging; Radiography; Tomography, X-Ray Computed
PubMed: 25002353
DOI: 10.1016/j.rx.2014.04.004 -
Diagnostics (Basel, Switzerland) Nov 2022This study aims to investigate isocitrate dehydrogenase gene mutations in patients with the non-hereditary skeletal disorders of Ollier disease and Maffucci syndrome,...
Mutations Are Potentially the Intrinsic Genetic Link among the Multiple Neoplastic Lesions in Ollier Disease and Maffucci Syndrome: A Clinicopathologic Analysis from a Single Institute in Shanghai, China.
BACKGROUND
This study aims to investigate isocitrate dehydrogenase gene mutations in patients with the non-hereditary skeletal disorders of Ollier disease and Maffucci syndrome, particularly in the extraosseous tumours.
METHODS
A total of 16 tumours from three patients with Ollier disease and three patients with Maffucci syndrome were collected. Sanger sequencing was applied to determine the hotspot mutations of and genes in multiple neoplastic tissues.
RESULTS
A majority of the tumours displayed an mutation (p.R132C in 11 tumours including the paediatric ovarian tumour from one patient with Ollier disease, 4 cutaneous haemangiomas from three patients with Maffucci syndrome, 5 enchondromas and 1 chondrosarcoma; p.R132H in 2 cartilaginous tumours from one patient).
CONCLUSIONS
mutations were demonstrated in multiple cartilaginous tumours and extraskeletal neoplasms in this case series. Specifically, identical mutations were confirmed in the separate lesions of each patient. These results are in concordance with findings that have been reported. However, here, we additionally reported the first case of Ollier disease with an ovarian tumour, which harboured the identical mutation with the corresponding cartilaginous tumour. We further provided evidence that mutations are the potential genetic links among the multiple neoplastic lesions of Ollier disease and Maffucci syndrome.
PubMed: 36428825
DOI: 10.3390/diagnostics12112764