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Children (Basel, Switzerland) Jun 2021There are multiple forms of enchondromatosis with Ollier's and Maffucci's being the most prevalent types. Limb length discrepancy is a common problem in patients with...
There are multiple forms of enchondromatosis with Ollier's and Maffucci's being the most prevalent types. Limb length discrepancy is a common problem in patients with Ollier's and Maffucci's enchondromatosis. There are multiple reports about lengthening bones in patients with enchondromatosis using external fixators. However, there are no case series regarding the use of implantable lengthening technology. The purpose of this paper is to describe our experience with implantable nail lengthening in patients with enchondromatosis. A retrospective chart and radiographic review of patients with enchondromatosis who underwent implantable nail limb lengthening was performed. Seven patients with 14 bony segments were reviewed. A total of 11/14 lengthenings were completed without difficulty. There were no issues in terms of fixation location in patients with Ollier's disease. One patient with Maffucci's syndrome experienced migration of the nail during two lengthenings due to a combination of intralesional fixation and preconsolidation. One patient with Ollier's disease developed a knee extension contracture requiring manipulation under anesthesia. No other complications were recorded. The use of implantable nail lengthening to resolve limb length discrepancies in patients with Ollier's disease appears to be safe and effective.
PubMed: 34198529
DOI: 10.3390/children8060502 -
Diagnostic and Interventional Imaging Apr 2013Cartilaginous tumours of the extremities are commonly seen in radiographs. Enchondroma is the most frequently encountered tumour. Since the vast majority of enchondromas... (Review)
Review
Cartilaginous tumours of the extremities are commonly seen in radiographs. Enchondroma is the most frequently encountered tumour. Since the vast majority of enchondromas are asymptomatic, they are typically discovered as incidental findings or along with a pathologic fracture. The authors propose a pictorial review to illustrate the imaging features of cartilaginous bone lesions of the hand and their specificities, and discuss the main differential diagnoses.
Topics: Bone Neoplasms; Calcinosis; Cartilage; Chondroma; Chondrosarcoma; Diagnosis, Differential; Enchondromatosis; Finger Phalanges; Fractures, Spontaneous; Gout; Hand Bones; Humans; Magnetic Resonance Imaging; Osteochondromatosis; Periosteum; Tomography, X-Ray Computed
PubMed: 23478067
DOI: 10.1016/j.diii.2013.01.012 -
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 -
Arquivos de Neuro-psiquiatria Sep 2007Maffucci's syndrome is a rare congenital condition, sometimes misdiagnosed as Ollier's disease, characterized by multiple enchondromas combined with hemangiomas and... (Review)
Review
Maffucci's syndrome is a rare congenital condition, sometimes misdiagnosed as Ollier's disease, characterized by multiple enchondromas combined with hemangiomas and phlebectasia. Coexisting primary malignancies have been described sporadically. We report two cases of Maffucci's syndrome associated with cranial base chondrosarcoma, emphasizing pathophysiological features and the challenging management of intracranial chondrosarcomas. To the best of our knowledge, only twelve similar cases have been reported in the literature.
Topics: Adult; Chondrosarcoma; Enchondromatosis; Humans; Magnetic Resonance Imaging; Male; Skull Base Neoplasms; Tomography, X-Ray Computed
PubMed: 17952287
DOI: 10.1590/s0004-282x2007000500016 -
American Journal of Medical Genetics.... Mar 2018The anatomical collection of the Anatomical Museum of Leiden University Medical Center (historically referred to as Museum Anatomicum Academiae Lugduno-Batavae) houses...
The anatomical collection of the Anatomical Museum of Leiden University Medical Center (historically referred to as Museum Anatomicum Academiae Lugduno-Batavae) houses and maintains more than 13,000 unique anatomical, pathological and zoological specimens, and include the oldest teratological specimens of The Netherlands. Throughout four centuries hundreds of teratological specimens were acquired by more than a dozen collectors. Due to the rich history of this vast collection, teratological specimens can be investigated in a unique retrospective sight going back almost four centuries. The entire 19th century collection was described in full detail by Eduard Sandifort (1742-1814) and his son Gerard Sandifort (1779-1848). Efforts were made to re-describe, re-diagnose and re-categorize all present human teratological specimens, and to match them with historical descriptions. In the extant collection a total of 642 human teratological specimens were identified, including exceptional conditions such as faciocranioschisis and conjoined twins discordant for cyclopia, and sirenomelia. Both father and son Sandifort differed in their opinion regarding the causative explanation of congenital anomalies. Whereas, their contemporaries Wouter Van Doeveren (1730-1783) and Andreas Bonn (1738-1817) both presented an interesting view on how congenital anomalies were perceived and explained during the 18th and 19th centuries; the golden age of descriptive teratology. Although this enormous collection is almost 400 years old, it still impresses scientists, (bio)medical students, and laymen visiting and exploring the collections of the Museum Anatomicum in Leiden, The Netherlands.
Topics: Congenital Abnormalities; Education, Medical; History, 17th Century; History, 18th Century; History, 19th Century; Humans; Museums; Netherlands; Teratology; Universities
PubMed: 29399953
DOI: 10.1002/ajmg.a.38617 -
Journal of Orthopaedic Case Reports Nov 2021Enchondromas are benign lesion of cartilaginous origin seen in early childhood. Multiple enchondromatosis is also known as Ollier's disease which involves the...
INTRODUCTION
Enchondromas are benign lesion of cartilaginous origin seen in early childhood. Multiple enchondromatosis is also known as Ollier's disease which involves the appendicular skeleton with multiple site involvement. We present a rare case of appendicular as well as axial skeleton involvement in a case of Ollier's disease.
CASE REPORT
A 13-year-old male with multiple enchondromas including all the appendicular skeleton along with ribs and cervical spine. Patient was evaluated with X-rays and non-contrast computerized tomography and is on conservative treatment and on regular monthly follow-up with no neurological deficit and no respiratory complications till now. Further evaluation for deformity correction if required, will be considered after skeletal maturity.
CONCLUSION
Ollier's disease is a rare presentation with multiple enchondromas in the appendicular skeleton. Current case is further rare presentation of the Ollier's disease with involvement of cervical spine and ribs as well.
PubMed: 35415112
DOI: 10.13107/jocr.2021.v11.i11.2504 -
Rheumatology International Nov 2020Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia characterized with platyspondyly and metaphyseal lesions of the long bones mimicking enchondromatosis,... (Review)
Review
Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia characterized with platyspondyly and metaphyseal lesions of the long bones mimicking enchondromatosis, resulting in short stature. SPENCD often coexists with neurologic disorders and immune dysregulation. Spasticity, developmental delay and intracranial calcification are main neurologic abnormalities. Large spectrum of immunologic abnormalities may be seen in SPENCD, including immune deficiencies and autoimmune disorders with autoimmune thrombocytopenia and systemic lupus erythematosus as the most common phenotypes. SPENCD is caused by loss of tartrate-resistant acid phosphatase (TRAP) activity, due to homozygous mutations in ACP5, playing a role in non-nucleic acid-related stimulation/regulation of the type I interferon pathway. We present two siblings, 13-year-old girl and 25-year-old boy with SPENCD, from consanguineous parents. Both patients had short stature, platyspondyly, metaphyseal changes, spastic paraparesis, mild intellectual disability, and juvenile-onset SLE. The age at disease-onset was 2 years for girl and 19 years for boy. Both had skin and mucosa involvement. The age at diagnosis of SLE was 4 years for girl, and 19 years for boy. The clinical diagnosis of SPENCD was confirmed by sequencing of ACP5 gene, which revealed a homozygous c.155A > C (p.K52T), a variant reported before as pathogenic. Juvenile-onset SLE accounts for about 15-20% of all SLE cases. But, the onset of SLE before 5-years of age and also monogenic SLE are rare. Our case report and the literature review show the importance of multisystemic evaluation in the diagnosis of SPENCD and to remind the necessity of investigating the monogenic etiology in early-onset and familial SLE cases.
Topics: Adolescent; Adult; Age of Onset; Antirheumatic Agents; Autoimmune Diseases; Brain Diseases; Calcinosis; Female; Humans; Immunologic Deficiency Syndromes; Intellectual Disability; Lupus Erythematosus, Systemic; Male; Osteochondrodysplasias; Paraparesis, Spastic; Siblings; Tartrate-Resistant Acid Phosphatase
PubMed: 32691099
DOI: 10.1007/s00296-020-04653-x -
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 -
Anales de Pediatria (Barcelona, Spain :... Sep 2017
Topics: Child; Enchondromatosis; Humans; Male
PubMed: 27288070
DOI: 10.1016/j.anpedi.2016.04.011 -
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