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Cureus Oct 2023Maffucci's syndrome is a rare congenital nonhereditary syndrome with less than 300 cases having been reported in the United States. It is characterized by multiple...
Maffucci's syndrome is a rare congenital nonhereditary syndrome with less than 300 cases having been reported in the United States. It is characterized by multiple enchondromas, hemangiomas, and rarely lymphangiomas. Enchondromas may undergo malignant transformation to chondrosarcomas. Surveillance plays a vital role in detecting early malignant transformation. Fluorodeoxyglucose (FDG) PET/CT, although falling out of favor, may be utilized as an imaging modality by physicians to determine such transformation, allowing for timely management and intervention. In this report, we share our experience with such a case.
PubMed: 37822693
DOI: 10.7759/cureus.46552 -
Acta Medica Lituanica 2021Ollier disease is the most common nonhereditary type of enchondromatosis. Enchondromas are common, usually benign intraosseous cartilaginous tumors that form near the...
SUMMARY BACKGROUND
Ollier disease is the most common nonhereditary type of enchondromatosis. Enchondromas are common, usually benign intraosseous cartilaginous tumors that form near the growth plate cartilage predominantly unilaterally in the metaphyses and diaphyses of tubular bones. They usually affect the long bones of the hand, the humerus, and the tibia, followed by flat bones, such as the pelvis. The estimated prevalence of Ollier disease is 1 in 100,000 and while it is linked with somatic heterozygous mutations in IDH1 or IDH2 genes, exact etiology is unknown. The risk of malignant transformation towards chondrosarcoma is up to 30-35% and it is clinically suspected when pain and a rapid increase in the size of the lesions is seen.
CASE PRESENTATIONS
We report two clinical cases of patients diagnosed with Ollier disease. In both cases transformation to chondrosarcoma was observed.
CONCLUSIONS
Ollier disease is a rare disorder, defined by the presence of multiple enchondromas and an asymmetric distribution of the cartilage lesions that can be extremely variable in terms of size, location, age, gender. Constant monitoring of patients is important due to the high risk of malignancy. Because the disease is very rare and the manifestations vary widely, each patient's case must be evaluated, and the treatment strategy adopted individually.
PubMed: 34393643
DOI: 10.15388/Amed.2021.28.1.8 -
World Journal of Surgical Oncology Jun 2022Maffucci syndrome (MS) is a rare, nonhereditary congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas, associated with an increased risk...
BACKGROUND
Maffucci syndrome (MS) is a rare, nonhereditary congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas, associated with an increased risk of developing malignant tumors. Given their rarity, the pathogenesis of these tumors has not been clarified, and there is no standard treatment.
CASE PRESENTATION
We present a case of a 45-year-old man with MS to supplement the clinical manifestations and explore the molecular mechanism of MS. The patient underwent amputation surgery to inhibit tumor development and was diagnosed with MS with 1-2 grade giant chondrosarcoma in the left ankle. In addition, the whole exon analysis results revealed isocitrate dehydrogenase 1 (IDH1) R132C mutation in chondrosarcoma lesions but not in blood DNA.
CONCLUSIONS
This case report showed MS complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation, which is appropriate to monitor the development of MS pathology and other concomitant lesions.
Topics: Ankle; Bone Neoplasms; Chondrosarcoma; Enchondromatosis; Humans; Isocitrate Dehydrogenase; Male; Middle Aged; Mutation
PubMed: 35765075
DOI: 10.1186/s12957-022-02686-z -
Cureus Aug 2023Ollier disease is a rare skeletal dysplasia characterized by the formation of multiple enchondromas (enchondromatosis), typically in the long bones of the extremities....
Ollier disease is a rare skeletal dysplasia characterized by the formation of multiple enchondromas (enchondromatosis), typically in the long bones of the extremities. These tumors are benign but can become complicated by the development of pathologic fractures, limb deformity, and malignant transformation to chondrosarcoma. Ollier disease has a highly variable presentation and is associated with a range of presenting findings; however, the most common presentation is a pathologic fracture. Surgical options include curettage and grafting of the enchondromas and, when displaced, fracture reduction and fixation. Of note, these fractures will heal without surgery. Regardless, all patients must be routinely monitored with yearly radiographs in order to detect malignant transformation as early as possible. In this report, we describe the case of an 11-year-old female who presented to her physician with pain and swelling of her right ring and small fingers after playing in a swimming pool with no obvious mechanism of trauma. A routine, plain radiographic evaluation of her hand revealed the presence of multiple enchondromatosis. We hope to use this case to highlight the surgical management options for young patients with Ollier disease and discuss circumstances in which surgical management may not be indicated.
PubMed: 37731444
DOI: 10.7759/cureus.43815 -
Radiology Case Reports Oct 2023Ollier disease is an uncommon disease characterized by several enchondromas and an asymmetric distribution of cartilage lesions, which can vary significantly in size,...
Ollier disease is an uncommon disease characterized by several enchondromas and an asymmetric distribution of cartilage lesions, which can vary significantly in size, location, age, and gender. The primary symptom of this condition is a nonossifying chondrocyte mass or hamartomatous chondrocyte growth in the metaphysis of a short or long bone. Specific cases can progress to chondrosarcoma or osteosarcoma. X-ray is the most fundamental diagnostic technique for skeletal illnesses. In this article, we present a case of Ollier disease from Mother and Child Hospital IBN SINA, Rabat, Morocco.
PubMed: 37593331
DOI: 10.1016/j.radcr.2023.07.042 -
Frontiers in Endocrinology 2023The aim of this study was to explore the symptoms, treatment, and pathogenesis of ovarian juvenile granulosa cell tumors with Ollier's disease in children.
OBJECTIVE
The aim of this study was to explore the symptoms, treatment, and pathogenesis of ovarian juvenile granulosa cell tumors with Ollier's disease in children.
METHODS
From October 2019 to October 2020, clinical data were retrospectively analyzed for one case of ovarian juvenile granulosa cell tumors with Ollier's disease. Whole-exome sequencing and Sanger sequencing were used to detect gene mutation in ovarian tumor and chondroma tissue. NADP-dependent isocitrate dehydrogenase-1 (IDH1) and S6 ribosomal protein expression levels in cells transfected with wild-type or mutant plasmid were analyzed by Western blot.
RESULTS
The 4-year-old female showed multiple skeletal deformities, bilateral breast development with chromatosis, and vulvar discharge. Sex hormone assay suggested that estradiol and prolactin were elevated, and the x-ray of limbs suggested enchondroma. Pelvic ultrasound and abdominal CT revealed a right ovarian solid mass. Pathologic examination of the right ovarian solid mass showed a juvenile granulosa cell type. A c.394C>T (p. Arg132Cys) mutation of the IDH1 gene was detected in both the ovarian juvenile granulosa cell tumors and enchondroma. Transfection of HeLa cells with either WT or Mut plasmid caused 4.46- or 3.77-fold overexpression of IDH1 gene compared to non-transfected control cells, respectively. R132C mutation inhibited the phosphorylation of S6 ribosomal protein, which is central to the mTOR pathway. Postoperatively, estradiol and prolactin levels fell to values normal for her age and bilateral breast gradual retraction.
CONCLUSION
The incidence of ovarian juvenile granulosa cell tumors with Ollier's disease in children may be caused by generalized mesodermal dysplasia; IDH1 gene mutation may play a facilitated role in this process. Surgical operation is the main treatment. We suggest that patients with ovarian juvenile granulosa cell tumors and Ollier's disease should undergo regular investigation.
Topics: Humans; Child; Female; Child, Preschool; Enchondromatosis; Granulosa Cell Tumor; HeLa Cells; Prolactin; Retrospective Studies; Ribosomal Proteins; Estradiol; Isocitrate Dehydrogenase
PubMed: 37324278
DOI: 10.3389/fendo.2023.1093273 -
Neurosurgical Focus: Video Apr 2020Maffucci syndrome is an extremely rare disorder characterized by benign enchondromas, skeletal deformities, and cutaneous lesions composed of abnormal blood vessels....
Maffucci syndrome is an extremely rare disorder characterized by benign enchondromas, skeletal deformities, and cutaneous lesions composed of abnormal blood vessels. Enchondromas rarely arise in the cranial bones. Interdural pituitary transposition is an effective way to gain access to the posterior clinoid, without affecting the function of the pituitary gland. Here, the authors present a case of a posterior clinoid process enchondroma in a patient with Maffucci syndrome. The tumor was resected via an interdural pituitary transposition fashion. Four months postoperatively, the patient's oculomotor function had recovered to normal and the function of the pituitary gland was preserved intact. The video can be found here: https://youtu.be/EYgVwVZuC4g.
PubMed: 36284792
DOI: 10.3171/2020.4.FocusVid.19801 -
Cureus Nov 2019In this study, we report a four-year-old male with D-2-hydroxyglutaric aciduria (D2HA) and enchondromatosis with a prior history of hyperpigmented, segmental whorls and...
In this study, we report a four-year-old male with D-2-hydroxyglutaric aciduria (D2HA) and enchondromatosis with a prior history of hyperpigmented, segmental whorls and streaks on his abdomen who later presented with an eruption of angiokeratoma circumscriptum within a similar distribution. His condition can likely be explained by underlying somatic mosaicism; however, a unifying culprit gene mutation has not yet been identified. To date, only 10 reported cases of D2HA with enchondromatosis are available in the literature with three reported skin findings. This is the first reported case of angiokeratoma circumscriptum associated with the rare condition of D2HA and enchondromatosis.
PubMed: 31890366
DOI: 10.7759/cureus.6157 -
Clinical Case Reports Jun 2021Few multifocal hand chondrosarcomas have been reported. To our knowledge, this report is the first to describe multifocal hand chondrosarcoma in a patient with no...
Few multifocal hand chondrosarcomas have been reported. To our knowledge, this report is the first to describe multifocal hand chondrosarcoma in a patient with no evidence of prior enchondroma, Ollier's disease, or Maffucci syndrome.
PubMed: 34136252
DOI: 10.1002/ccr3.4352 -
Medicina (Kaunas, Lithuania) Dec 2022: Hereditary multiple exostoses (HME) is a disease characterized by cartilage-capped bony protuberances at the site of growth plates of long bones. Functional mutations...
: Hereditary multiple exostoses (HME) is a disease characterized by cartilage-capped bony protuberances at the site of growth plates of long bones. Functional mutations in the exostosin genes ( and ) are reported to affect the hedgehog signalling pathways leading to multiple enchondromatosis. However, the exact role of each EXT protein in the regulation of heparan sulphate (HS) chain elongation is still an enigma. In this study, a Pakistani family with HME is investigated to find out the genetic basis of the disease. : Genotyping of eight members of the family by amplifying microsatellite markers, tightly linked to the and genes. : The study revealed linkage of the HME family to the locus 8q24.1. Sanger sequencing identified a heterozygous deletion () in exon 1 of , segregating with the disease phenotype in the family. In silico analysis predicted a shift in the frame causing an early stop codon (p.R83GfsX52). The predicted dwarf protein constituting 134 amino acids was functionally aberrant with a complete loss of the catalytic domain at the C-terminus. Interestingly, an alternative open reading frame 3 (ORF3) caused by the frame shift is predicted to encode a protein sequence, identical to the wild type and containing the catalytic domain, but lacking the first 100 amino acids of the wild-type EXT1 protein. : Consequently, haploinsufficiency could be the cause of HME in the investigated family as the mutated copy of is ineffective for complex formation. The predicted ORF3 protein could be of great significance in understanding several aspects of HME pathogenesis.
Topics: Humans; Exostoses, Multiple Hereditary; Haploinsufficiency; Pakistan; Hedgehog Proteins; Mutation; N-Acetylglucosaminyltransferases; Heparitin Sulfate; Amino Acids
PubMed: 36676722
DOI: 10.3390/medicina59010100