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Strategies in Trauma and Limb... Apr 2015We present our experience of lengthening and correction of complex deformities in the management of patients with Ollier's dysplasia (multiple enchondromatosis) from...
We present our experience of lengthening and correction of complex deformities in the management of patients with Ollier's dysplasia (multiple enchondromatosis) from 1985 and 2002. All patients were under 18 years with a minimum follow-up time of 2 years (mean 9.6 years, range 2-15 years). There were a total of ten patients of which seven were male and three female. The mean age at presentation was 10.7 years (range 5-17 years; SD 3.7 years). The total length gain was 42.3 mm (range 30-110 mm; SD 28.9 mm). The number of days in external fixation was 164.8 days (range 76-244 days; SD 42.9 days). The bone healing index was 32.5 days/cm (18-50 days/cm; SD 10.3 days/cm). Patients with Ollier's disease have limb length inequality and angular deformities and require multiple reconstructive procedures owing to a high incidence of recurrence. We identified a tendency for the osteotomy to prematurely consolidate and advise the latency period after surgery to be 4-5 days and for distraction to proceed at a faster rate.
PubMed: 25861039
DOI: 10.1007/s11751-015-0223-5 -
American Journal of Medical Genetics.... Jan 2017The Peter the Great Museum of Anthropology and Ethnography (Kunstkamera) in Saint Petersburg is the oldest museum in Russia. It keeps the remains of the anatomical... (Review)
Review
The Peter the Great Museum of Anthropology and Ethnography (Kunstkamera) in Saint Petersburg is the oldest museum in Russia. It keeps the remains of the anatomical collection of the world-famous 17th century Dutch anatomist Frederik Ruysch. This unique collection was bought and shipped in 1717 by Czar Peter the Great, and presently still comprises more than 900 specimens, a modest number of which concerns specimens with congenital anomalies. We searched for teratological clues in the existing collection and in all his descriptions and correspondence regarding specimens and cases he encountered during his career as doctor anatomiae and chief instructor of the surgeons and midwives in Amsterdam. A total of 63 teratological specimens and case descriptions were identified in this legacy, including some exceedingly rare anomalies. As it turns out, Ruysch was the first to describe several of the conditions we encountered, including intracranial teratoma, enchondromatosis, and Majewski syndrome. Although his comments pose an interesting view on how congenital anomalies were scientifically perceived in early 18th century Europe, Ruysch mostly refrained from explaining the causes of the conditions he encountered. Instead, he dedicated himself to careful descriptions of his specimens. Almost 300 years after his demise, Ruysch's legacy still impresses and inspires both scientists and lay men. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.
Topics: Anatomy; Biological Specimen Banks; Congenital Abnormalities; Famous Persons; History, 17th Century; History, 18th Century; Humans; Museums; Myxoma; Netherlands; Russia; Teratoma; Twins, Conjoined
PubMed: 27126916
DOI: 10.1002/ajmg.a.37663 -
Journal of Medical Case Reports Jun 2011Maffucci syndrome is a rare clinical entity (approximately 200 cases have been reported in the medical literature) with a combined occurrence of multiple enchondromas...
INTRODUCTION
Maffucci syndrome is a rare clinical entity (approximately 200 cases have been reported in the medical literature) with a combined occurrence of multiple enchondromas and vascular tumors.
CASE PRESENTATION
The case of a 43-year-old Japanese man with multiple chondromas and hemangiomas (Maffucci syndrome) is reported. One of the hemangiomas was removed and examined pathologically. The morphological picture was an admixture of cavernous hemangioma and spindle cell hemangioma without cytological atypia or mitosis. Sheets of vacuolated endothelial cells were also observed.
CONCLUSION
A rare case of hemangioma associated with Maffucci syndrome, focusing on the pathologic nature of the submitted tissue, is reported.
PubMed: 21689466
DOI: 10.1186/1752-1947-5-224 -
Acta Gastro-enterologica Belgica 2016A 70-year-old man was admitted to our clinic with a history of rectal bleeding and constipation, his colonoscopy revealed varicosities and bluish nodular lesions of the...
A 70-year-old man was admitted to our clinic with a history of rectal bleeding and constipation, his colonoscopy revealed varicosities and bluish nodular lesions of the rectum (Figure 1). Abdominal CT showed multiple nodular lesions beginning from the distal descending colon and extending to the rectum, calcifications suggesting phleboliths were also seen in these lesions. A contrast enhanced pelvic MRI demonstrated multiple tubular lesions showing hyperintensity on T2-weighted images and hypointensity on T1-weighted images, consistent with the affected areas on the CT scan (Figure 2). It was a diffuse cavernous hemangioma, which mostly affects the rectosigmoid colon in the gastrointestinal tract, and can clinically mimic internal hemorrhoids, ulcerative colitis or cancer (1). Gastrointestinal hemangioma is a rare benign vascular neoplasm, and might be associated with a congenital disorder like Osler-Weber-Rendu disease, Maffucci's syndrome, Klippel-Trénaunay syndrome, or the congenital blue rubber bleb nevus syndrome (2). Even though there are different medical treatment options targeting VEGF and FGF-mediated pathways such as bevacizumab and thalidomide, and endoscopic approaches like sclerotherapy and electrocautery; complete resection of the hemangioma is the only curative treatment method (1, 3). Therefore, the patient was referred to department of surgery for a definitive treatment, and lost to follow-up.
Topics: Aged; Colon; Colonic Neoplasms; Colonoscopy; Diagnosis, Differential; Gastrointestinal Hemorrhage; Hemangioma, Cavernous; Humans; Image Enhancement; Magnetic Resonance Imaging; Male
PubMed: 27821043
DOI: No ID Found -
Acta Neuropathologica Communications Mar 2016IDH mutations are found in the majority of adult, diffuse, low-grade and anaplastic gliomas and are also frequently found in cartilaginous tumors. Ollier disease and...
IDH mutations are found in the majority of adult, diffuse, low-grade and anaplastic gliomas and are also frequently found in cartilaginous tumors. Ollier disease and Maffucci syndrome are two enchondromatosis syndromes characterized by the development of multiple benign cartilaginous tumors due to post-zygotic acquisition of IDH mutations. In addition to skeletal tumors, enchondromatosis patients sometimes develop gliomas. The aim of the present study was to determine whether gliomas in enchondromatosis patients might also result from somatic IDH mosaicism and whether their characteristics are similar to those of sporadic IDH-mutated gliomas. For this purpose, we analyzed the characteristics of 6 newly diagnosed and 32 previously reported cases of enchondromatosis patients who developed gliomas and compared them to those of a consecutive series of 159 patients with sporadic IDH-mutated gliomas. As was the case with sporadic IDH mutated gliomas, enchondromatosis gliomas were frequently located in the frontal lobe (54 %) and consisted of diffuse low-grade (73 %) or anaplastic gliomas (21 %). However, they were diagnosed at an earlier age (25.6 years versus 44 years, p < 0.001) and were more frequently multicentric (32 % versus 1 %, p < 0.001) and more frequently located within the brainstem than sporadic IDH mutated gliomas (21 % versus 1 %, p < 0.001). Their molecular profile was characterized by IDH mutations and loss of ATRX expression. In two patients, the same IDH mutation was demonstrated in the glioma and in a cartilaginous tumor. In contrast to sporadic IDH mutated gliomas, no enchondromatosis glioma harbored a 1p/19q co-deletion (0/6 versus 59/123, p = 0.03). The characteristics of gliomas in patients with enchondromatosis suggest that these tumors, as cartilaginous tumors, result from somatic IDH mosaicism and that the timing of IDH mutation acquisition might affect the location and molecular characteristics of gliomas. Early acquisition of IDH mutations could shift gliomagenesis towards the brainstem thereby mimicking the regional preference of histone mutated gliomas.
Topics: Adult; Brain Neoplasms; Chromosome Deletion; Chromosomes, Human, Pair 1; Female; Glioma; Humans; Isocitrate Dehydrogenase; Magnetic Resonance Imaging; Male; Mosaicism; Mutation; Retrospective Studies
PubMed: 27036230
DOI: 10.1186/s40478-016-0302-y -
Journal of Clinical Immunology Jul 2016The United States Immunodeficiency Network (USIDNET) patient registry was used to characterize the presentation, genetics, phenotypes, and treatment of patients with...
PURPOSE
The United States Immunodeficiency Network (USIDNET) patient registry was used to characterize the presentation, genetics, phenotypes, and treatment of patients with Hyper IgM Syndrome (HIGM).
METHODS
The USIDNET Registry was queried for HIGM patient data collected from October 1992 to July 2015. Data fields included demographics, criteria for diagnosis, pedigree analysis, mutations, clinical features, treatment and transplant records, laboratory findings, and mortality.
RESULTS
Fifty-two physicians entered data from 145 patients of ages 2 months to 62 years (median 12 years); 131 were males. Using patients' age at last entry, data from 2072 patient years are included. Mutations were recorded for 85 subjects; 82 were in CD40LG. Eighteen subjects had non-X-linked HIGM. 40 % had a normal serum IgM and 15 %, normal IgA. Infections were reported for 91 %, with pulmonary, ear, and sinus infections being the most common. 42 % had Pneumocystis jirovecii pneumonia; 6 % had Cryptosporidium. 41 % had neutropenia. 78 % experienced non-infectious complications: chronic diarrhea (n = 22), aphthous ulcers (n = 28), and neoplasms (n = 8) including colon cancer, adrenal adenoma, liver adenocarcinoma, pancreatic carcinoid, acute myeloid leukemia, hepatoma, and, in a female with an autosomal dominant gain of function mutation in PIK3CD, an ovarian dysgerminoma. Thirteen patients had a hematopoietic marrow or stem cell transplant; three had solid organ transplants. Thirteen were known to have died (median age = 14 years).
CONCLUSIONS
Analysis of the USIDNET Registry provides data on the common clinical features of this rare syndrome, and in contrast with previously published data, demonstrates longer survival times and reduced gastrointestinal manifestations.
Topics: Adolescent; Adult; CD40 Ligand; Child; Child, Preschool; Diarrhea; Female; Hematopoietic Stem Cell Transplantation; Humans; Hyper-IgM Immunodeficiency Syndrome; Male; Middle Aged; Mutation; Neutropenia; Registries; Survival Analysis; United States; Young Adult
PubMed: 27189378
DOI: 10.1007/s10875-016-0291-4 -
Annals of Saudi Medicine 2000
PubMed: 17322672
DOI: 10.5144/0256-4947.2000.257 -
Orphanet Journal of Rare Diseases Aug 2012Little information is available on the prevalence, geographic distribution and mutation spectrum of genetic skeletal disorders (GSDs) in China. This study systematically... (Review)
Review
Little information is available on the prevalence, geographic distribution and mutation spectrum of genetic skeletal disorders (GSDs) in China. This study systematically reviewed GSDs as defined in "Nosology and Classification of genetic skeletal disorders (2010 version)" using Chinese biomedical literature published over the past 34 years from 1978 to 2012. In total, 16,099 GSDs have been reported. The most frequently reported disorders were Marfan syndrome, osteogenesis imperfecta, fibrous dysplasia, mucopolysaccharidosis, multiple cartilaginous exostoses, neurofibromatosis type 1 (NF1), osteopetrosis, achondroplasia, enchondromatosis (Ollier), and osteopoikilosis, accounting for 76.5% (12,312 cases) of the total cases. Five groups (group 8, 12, 14, 18, 21) defined by "Nosology and Classification of genetic skeletal disorders" have not been reported in the Chinese biomedical literature. Gene mutation testing was performed in only a minor portion of the 16,099 cases of GSDs (187 cases, 1.16%). In total, 37 genes for 41 different GSDs were reported in Chinese biomedical literature, including 43 novel mutations. This review revealed a significant imbalance in rare disease identification in terms of geographic regions and hospital levels, suggesting the need to create a national multi-level network to meet the specific challenge of care for rare diseases in China.
Topics: Bone Diseases; China; Genetic Diseases, Inborn; Humans; Publishing
PubMed: 22913777
DOI: 10.1186/1750-1172-7-55 -
Virchows Archiv : An International... Jul 2021Tumour-to-tumour metastasis is very unusual and has been defined as a tumour metastasis into another histologically different tumour. It is extremely rare in bone. We... (Review)
Review
Tumour-to-tumour metastasis is very unusual and has been defined as a tumour metastasis into another histologically different tumour. It is extremely rare in bone. We report a case of lung squamous cell carcinoma metastasized to an enchondroma in the femur of a patient with Ollier disease. A 60-year-old female had a history of a poorly differentiated squamous cell carcinoma of the lung. She underwent a video-assisted thoracoscopic lobectomy, and a follow-up MRI scan showed three lesions in the left distal femur and proximal tibia, which were initially interpreted as metastasis on radiology. Resection of the left proximal tibial lesion was performed, and the pathological findings were consistent with enchondroma with no evidence of metastasis. Subsequent curettage of lesions in the distal left femur revealed metastatic poorly differentiated carcinoma with foci of hyaline cartilage, which was most consistent with metastatic carcinoma in a pre-existing enchondroma. The MRI films were re-reviewed. Characteristic MRI features of enchondroma were found in the lesion in the left proximal tibia and one of the lesions in the left distal femur, while the features of the other lesion in the left distal femur included cortical destruction and extensive oedema in surrounding soft tissue, which were consistent with a malignant tumour. In addition, the enchondroma in the lateral condyle showed blurring and irregular inner margin and adjacent bone oedema, which likely represents a co-existing metastatic tumour and enchondroma. The difference in lineage was confirmed by immunohistochemistry. The final diagnosis was metastatic poorly differentiated carcinoma of the lung into a co-existent enchondroma. The diagnosis can be challenging and could be easily overlooked both radiologically and histologically. Thorough clinical and radiological information is critical for the diagnosis, and despite a very unusual event, awareness of the tumour-to-tumour metastasis phenomenon can avoid an inaccurate diagnosis by the pathologist, therefore preventing inappropriate clinical intervention.
Topics: Biopsy; Carcinoma, Squamous Cell; Chondroma; Diagnosis, Differential; Enchondromatosis; Female; Femoral Neoplasms; Femur; Humans; Lung Neoplasms; Magnetic Resonance Imaging; Middle Aged; Pneumonectomy; Predictive Value of Tests; Thoracic Surgery, Video-Assisted; Tomography, X-Ray Computed
PubMed: 33047157
DOI: 10.1007/s00428-020-02936-z -
Molecular Syndromology Dec 2014Maffucci syndrome (MS) is a rare congenital disorder characterized by multiple central cartilaginous tumors (enchondromas) in association with cutaneous spindle cell...
Maffucci syndrome (MS) is a rare congenital disorder characterized by multiple central cartilaginous tumors (enchondromas) in association with cutaneous spindle cell hemangiomas. These patients have a high incidence of malignant transformation. No familial case is known and the etiopathogenic cause remains unknown. In enchondromatosis (Ollier disease, OD), which is comprised of enchondromas only, 4 mutations in the PTHR1 gene have been identified in 4 patients; 3 were somatic and 1 was germline. No PTHR1 mutations have been detected in MS, whereas somatic IDH1 and, more rarely, IDH2 mutations have been observed in 77% of patients with MS and 81% of patients with OD. These genetic alterations are shared with other tumors, including glioma, leukemia and carcinoma. To search for underlying somatic genomic causes, we screened MS tissues using Affymetrix SNP-chips. We looked for CNVs, LOH and uniparental isodisomy (UPID) by performing pairwise analyses between allelic intensities in tumoral DNA versus the corresponding blood-extracted DNA. While common chromosomal anomalies were absent in constitutional DNA, several shared CNVs were identified in MS-associated tumors. The most frequently encountered somatic alterations were localized in 2p22.3, 2q24.3 and 14q11.2, implicating these chromosomal rearrangements in the formation of enchondromas and spindle cell hemangiomas in MS. In one chondrosarcoma specimen, large amplifications and/or deletions were observed in chromosomes 3, 6, 9, 10, 12, 13, and 19. Some of these genetic changes have been reported in other chondrosarcomas suggesting an etiopathogenic role. No LOH/UPID was observed in any Maffucci tissue. Our findings identify frequent somatic chromosomal rearrangements on 2p22.3, 2q24.3 and 14q11.2, which may unmask mutations leading to the lesions pathognomonic of MS.
PubMed: 25565925
DOI: 10.1159/000365898