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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 -
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 -
La Revue Du Praticien Jun 2023
Topics: Humans; Enchondromatosis
PubMed: 37458557
DOI: No ID Found -
Advances in Experimental Medicine and... 2023Several medical conditions that interest both the brain and the spinal cord have been described throughout the history of medicine. Formerly grouped under the term...
Several medical conditions that interest both the brain and the spinal cord have been described throughout the history of medicine. Formerly grouped under the term Phacomatosis because lesions of the eye were frequently encountered or genodermatosis when typical skin lesions were present, these terms have been progressively discarded. Although originally reported centuries ago, they still represent a challenge for their complexity of cure. Nowadays, with the introduction of advanced genetics and the consequent opportunity of whole-genome sequencing, new single cancer susceptibility genes have been identified or better characterized; although there is evidence that the predisposition to a few specific tumor syndromes should be accounted to a group of mutations in different genes while certain syndromes appeared to be manifestations of different mutations in the same gene adding supplementary problems in their characterization and establishing the diagnosis. Noteworthy, many syndromes have been genetically determined and well-characterized, accordingly in the near future, we expect that new targeted therapies will be available for the definitive cure of these syndromes and other gliomas (Pour-Rashidi et al. in World Neurosurgery, 2021). The most common CNS syndromes that will be discussed in this chapter include neurofibromatosis (NF) types 1 and 2, von Hippel-Lindau (VHL) disease, and tuberous sclerosis complex (TSC), as well as syndromes having mostly extra-neural manifestations such as Cowden, Li-Fraumeni, Turcot, and Gorlin syndromes.
Topics: Humans; von Hippel-Lindau Disease; Brain Neoplasms; Tuberous Sclerosis; Neurofibromatosis 1; Brain; Spinal Cord Neoplasms
PubMed: 37452957
DOI: 10.1007/978-3-031-23705-8_25 -
Advances in Experimental Medicine and... 2023Benign osseocartilaginous tumors of the spine are overall uncommon, representing between 1 and 13% of all primary bone tumors and less than 10% of all spinal tumors....
Benign osseocartilaginous tumors of the spine are overall uncommon, representing between 1 and 13% of all primary bone tumors and less than 10% of all spinal tumors. Tumors in this category include osteoblastic lesions such as the related osteoid osteoma and osteoblastoma, and cartilage-forming lesions including osteochondroma, chondroma, and chondroblastoma. Aneurysmal bone cysts, giant cell tumors of bone, and eosinophilic granulomas also comprise benign tumors of the spine arising from bone. There is significant heterogeneity in the epidemiology, molecular biology, imaging features, and optimal treatment of these lesions. For example, osteoid osteoma is characterized by high expression of the cyclooxygenase enzymes, making it amenable to treatment with anti-inflammatory drugs initially, whereas other lesions such as osteoblastoma may require intralesional curettage or en bloc resection sooner. Generally, en bloc resection is preferred when possible to minimize risk of recurrence. Further, some tumors may arise in the setting of syndromic conditions, such as multiple chondromas arising in Ollier disease or Maffucci syndrome, or as part of genetic disorders, such as osteochondromas in the context of hereditary multiple exostosis. These lesions may present with local pain, cause neurological compromise or be discovered incidentally on routine imaging. The Enneking classification and Weinstein-Boriani-Biagini system are routinely used to classify lesions and assist in surgical planning. More novel techniques such as radiofrequency ablation and laser photocoagulation have been applied for the treatment of osteoid osteoma and may have utility in the treatment of other lesion types. A multidisciplinary approach is critical in the management of benign lesions of the spine, and both chemotherapeutic and surgical approaches are routinely used.
Topics: Humans; Spinal Neoplasms; Osteoma, Osteoid; Osteoblastoma; Bone Neoplasms; Cartilage; Osteochondroma; Spinal Cord Neoplasms; Brain
PubMed: 37452949
DOI: 10.1007/978-3-031-23705-8_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 -
Annals of Medicine and Surgery (2012) Jun 2023Ollier disease is a rare genetic disorder characterized by the development of multiple enchondromas. The clinical manifestations of the disease vary widely, but patients...
UNLABELLED
Ollier disease is a rare genetic disorder characterized by the development of multiple enchondromas. The clinical manifestations of the disease vary widely, but patients often present with bone deformities and an increased risk of developing chondrosarcoma. Here, the authors present a case report of a 25-year-old male patient with a devastating and historic evolution of Ollier disease.
CASE PRESENTATION
At the age of 10, the patient developed a sub-centimeter mass in the first phalanx of the left middle finger, which subsequently grew in size. A biopsy was performed at the age of 14, which confirmed the diagnosis of chondroma. At the age of 14, the patient developed multiple large masses on the left hand, resulting in the amputation of his left hand. At 25 years old, the patient developed new masses in his contralateral hand and left foot.
DISCUSSION
Ollier disease is caused by somatic mutations in the PTH/PTHrP receptor gene, leading to the formation of multiple enchondromas. Patients with Ollier disease are at an increased risk of developing chondrosarcoma, which can be life-threatening. The diagnosis of Ollier disease is usually made based on clinical and radiographic findings, and genetic testing can confirm the diagnosis. Treatment is typically focused on managing the symptoms and preventing the development of chondrosarcoma.
CONCLUSION
The authors presented a case report of a patient with a devastating and historic evolution of Ollier disease. This case highlights the importance of early diagnosis and management of this disease to prevent the development of chondrosarcoma and minimize the risk of complications. Further research is needed to better understand the underlying mechanisms of the disease and develop effective treatments.
PubMed: 37363592
DOI: 10.1097/MS9.0000000000000678 -
International Journal of Surgery Case... Jul 2023Childhood colorectal cancers are extremely rare and so is Osteochondromatosis. Both diseases do not have epidemiological records in African countries. The aim of this...
INTRODUCTION AND IMPORTANCE
Childhood colorectal cancers are extremely rare and so is Osteochondromatosis. Both diseases do not have epidemiological records in African countries. The aim of this report is to present a rare coexistence of CRC and multiple enchondromas in a child.
PRESENTATION OF CASE
A case of a 12-year-old boy who presented with a large bowel obstruction secondary to an advanced tumor of the descending colon. He was also diagnosed with multiple osteochondromas affecting legs, arms, ribs, scapula, clavicle and pelvis. No positive family history was recorded. An urgent left hemicolectomy and diverting transverse colostomy was done. The colon can as stage IIIB and the patient received adjuvant chemotherapy. After 8 months of follow up, the colostomy was successfully reversed without any endoscopic signs of tumor growth or distant metastasis.
CLINICAL DISCUSSION
Colorectal cancer in childhood is rare. It may present with aggressive histological subtypes in children as compared to adults. There is little to no reports on the coexistence of colorectal cancer and multiple Osteochondromatosis. Microsatellite instability in DNA tumor is common in Colon Cancer and variety of mutations of EXT-1 and EXT-2 genes goes with Enchondromatosis.
CONCLUSION
The coexistence of two rare conditions is the remarkable issue in this case report. There are no prior reports in literature. Further genomic sequencing maybe required to better understand this coexistence.
PubMed: 37354823
DOI: 10.1016/j.ijscr.2023.108427 -
Cureus May 2023Maffucci syndrome is an extremely rare congenital condition characterized by the development of multiple enchondromas and haemangiomas, primarily on the extremities, and...
Maffucci syndrome is an extremely rare congenital condition characterized by the development of multiple enchondromas and haemangiomas, primarily on the extremities, and an association with various tumors. Colonic and pelvic floor function has never been explored in patients with Maffucci syndrome. We report a case illustrating the challenges in managing colonic and pelvic floor dysfunction in a female patient secondary to vascular malformations as part of Maffucci syndrome.
PubMed: 37332422
DOI: 10.7759/cureus.39095 -
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