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    894 results match your criteria Maffucci Syndrome

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    Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria.
    Skeletal Radiol 2018 May 10. Epub 2018 May 10.
    Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.
    Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA) (OMIM 614875) is a severe chondrodysplasia combined with a urinary excretion of D-2-hydroxyglutaric acid. Here, we reported the tenth case of this disease. A 15-year-old boy had symmetric radiolulencies in the metaphyses of the long bones suggesting enchondromatosis and platyspondyly. Read More
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    Multiple unexpected lesions of metachondromatosis detected by technetium-99m methylene diphosphonate SPECT/CT: A case report.
    Medicine (Baltimore) 2018 Apr;97(17):e0512
    Department of Nuclear Medicine, The Affiliated Hospital of Southwest Medical University.
    Rationale: Metachondromatosis (MC) is a very rare genetic disease, which is infrequently reported worldwide, which leads to osteochondroma and enchondromatosis. The disease has been shown to be associated with loss of function of the tumor suppressor gene "protein tyrosine phosphatase, non-receptor type 11" (PTPN11).

    Patient Concerns: A 12-year-old female was admitted to the hospital with pain due to an enlarged mass in her left fifth finger. Read More
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    Synovial sarcoma complicating Maffucci syndrome.
    Indian J Dermatol Venereol Leprol 2018 Apr 17. Epub 2018 Apr 17.
    Department of Dermatology, Farhat Hached University Hospital, Sousse, Tunisia.
    Maffucci syndrome is a rare nonhereditary disorder comprising of lymphovascular malformations and multiple enchondromas, which may be associated with several internal malignancies. This report describes a new association of Maffucci syndrome with pedal synovial sarcoma. Our case is also remarkable as lymphangioma circumscriptum is the sole lymphovascular component, which has been rarely reported. Read More
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    Surgical Treatment of Enchondromas of the Hand During Childhood in Ollier Disease.
    J Hand Surg Am 2018 Mar 15. Epub 2018 Mar 15.
    Université Paris Descartes, Sorbonne Paris Cité, Department of Pediatric Orthopedics, Hôpital Necker Enfants Malades, Paris, France.
    Purpose: The objective of the present study was to evaluate the outcome of surgical treatment of hand lesions in Ollier disease (OD) carried out during childhood.

    Methods: A retrospective review was carried out of 10 pediatric patients with hand involvement of OD, who had undergone surgery for metacarpal or phalangeal enchondromas. The technique comprised curettage and cortical bone reconstruction with corticoplasty, to restore a near-normal phalangeal volume. Read More
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    History and highlights of the teratological collection in the Museum Anatomicum of Leiden University, The Netherlands.
    Am J Med Genet A 2018 Mar 5;176(3):618-637. Epub 2018 Feb 5.
    Department of Anatomy, Embryology and Physiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
    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. Read More
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    The role of metabolic enzymes in mesenchymal tumors and tumor syndromes: genetics, pathology, and molecular mechanisms.
    Lab Invest 2018 Apr 16;98(4):414-426. Epub 2018 Jan 16.
    Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
    The discovery of mutations in genes encoding the metabolic enzymes isocitrate dehydrogenase (IDH), succinate dehydrogenase (SDH), and fumarate hydratase (FH) has expanded our understanding not only of altered metabolic pathways but also epigenetic dysregulation in cancer. IDH1/2 mutations occur in enchondromas and chondrosarcomas in patients with the non-hereditary enchondromatosis syndromes Ollier disease and Maffucci syndrome and in sporadic tumors. IDH1/2 mutations result in excess production of the oncometabolite (D)-2-hydroxyglutarate. Read More
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    [Vascular anomalies. Part II: vascular malformations].
    Chirurg 2018 Apr;89(4):319-330
    Klinik und Poliklinik für Gefäßchirurgie und Endovaskuläre Chirurgie, Universitätsklinikum, Universität zu Köln, Kerpener Str. 62, 50937, Köln, Deutschland.
    Vascular malformations are congenital vascular anomalies with normal endothelial turnover, which can affect the whole vessel tree (arterial, capillary or lymphatic) both as isolated defects or as part of a syndrome. Developmental errors during embryogenesis, such as abnormal signaling processes that control the apoptosis, maturation and growth of vascular cells, lead to the persistence of vascular plexus cells with some degree of differentiation. Vascular malformations are usually present at birth, although symptoms or complications may be manifested later. Read More
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    Maffucci Syndrome Associated With Adrenocorticotropic Hormone-Independent Bilateral Macronodular Adrenal Hyperplasia.
    J Endocr Soc 2017 Jan 12;1(1):51-56. Epub 2017 Jan 12.
    Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.
    Context: Maffucci syndrome is a rare, nonhereditary, mesodermal dysplastic disease characterized by the presence of multiple hemangiomas and enchondromas. This pathological condition, which is often unrecognized, is associated with a high prevalence of benign and malignant endocrine tumors involving pituitary, adrenal, thyroid, and parathyroid glands.

    Case Description: We describe the case of a young patient presenting a history suggestive of secondary arterial hypertension and typical features of Maffucci syndrome (multiple hemangiomas and enchondromas), which were unrecognized over the previous 3 decades. Read More
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    Enchondromatosis-associated oligodendroglioma: case report and literature review.
    Brain Tumor Pathol 2018 Jan 9;35(1):36-40. Epub 2017 Dec 9.
    Department of Neurosurgery, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka, 565-0871, Japan.
    Enchondromatosis is a rare skeletal disorder characterized by the development of multiple enchondromas, which can also manifest non-cartilage tumors including gliomas. Here, we describe a genetic analysis of a low-grade glioma that developed in an enchondromatosis case. A 32-year-old man with a long history of enchondromatosis developed a left frontal tumor. Read More
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    [Functional results of open wedge osteotomies in lower limb angular deformities in teenagers].
    Acta Ortop Mex 2017 May-Jun;31(3):141-144
    Shriners Hospital for Children-Mexico. Av. del Imán Núm. 257, Col. Pedregal de Santa Úrsula, CP 04600, Deleg. Coyoacán, Ciudad de México. México.
    Objective: The aim of this study was to evaluate the functional and radiographic results of adolescent patients with angular deformities of the pelvic limbs treated with an open wedge osteotomy system.

    Material And Methods: Observational, prospective, analytical and cross-sectional study of patients with angular deformity of the pelvic limbs treated with an open wedge osteotomy. We made a radiographic evaluation of the femorotibial angle, MAD angle, lower limb discrepancy, and pre- and postoperative degrees of the rotational center of deformity (CORA), as well as a telephone survey of the postoperative functional evaluation IKDC 2000. Read More
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    Radiographic features of Ollier's disease - two case reports.
    BMC Med Imaging 2017 Dec 2;17(1):58. Epub 2017 Dec 2.
    Orthopedic Department of French Medical Institute for Mothers and Children (FMIC), Kabul, Afghanistan.
    Background: Ollier's disease is a non-hereditary, benign bone tumor which is usually characterized by presence of multiple radiolucent lesions (enchondromas) in the metaphysis of long bones with unilateral predominance. The disease is a rare clinical entity with 1/100000 occurrence in early childhood. Patients mostly present with multiple hard swellings and deformity of the tubular bones specially hands and feet with leg discrepancy and pathologic fractures. Read More
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    Sclerosing angiomatoid nodular transformation of the spleen in a patient with Maffucci syndrome: a case report and review of literature.
    Diagn Pathol 2017 Nov 10;12(1):79. Epub 2017 Nov 10.
    Department of Gastrointestinal Surgery, The First Affiliated Hospital of Sun Yat-Sen University, 58 Zhongshan Second Road, Guangzhou, 510080, China.
    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. Read More
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    Mutational analysis using Sanger and next generation sequencing in sporadic spindle cell hemangiomas: A study of 19 cases.
    Genes Chromosomes Cancer 2017 12 23;56(12):855-860. Epub 2017 Sep 23.
    Department of Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands.
    Spindle cell hemangioma (SCH) is a distinct vascular soft-tissue lesion characterized by cavernous blood vessels and a spindle cell component mainly occurring in the distal extremities of young adults. The majority of cases harbor heterozygous mutations in IDH1/2 sporadically or rarely in association with Maffucci syndrome. However, based on mosaicism and accordingly a low percentage of lesional cells harboring a mutant allele, detection can be challenging. Read More
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    Tumor Syndromes That Include Bone Tumors: An Update.
    Surg Pathol Clin 2017 Sep;10(3):749-764
    Department of Medical Genetics and Skeletal Rare Diseases, Rizzoli Orthopedic Institute, Via Pupilli 1, Bologna 40136, Italy.
    Tumor syndromes, including bone neoplasias, are genetic predisposing conditions characterized by the development of a pattern of malignancies within a family at an early age of onset. Occurrence of bilateral, multifocal, or metachronous neoplasias and specific histopathologic findings suggest a genetic predisposition syndrome. Additional clinical features not related to the neoplasia can be a hallmark of specific genetic syndromes. Read More
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    Brain and skull base MRI findings in patients with Ollier-Maffucci disease: A series of 12 patient-cases.
    Clin Neurol Neurosurg 2017 Sep 18;160:147-151. Epub 2017 Jul 18.
    Centre de référence des maladies osseuses constitutionnelles, Hopital Necker Assistance Publique-Hôpitaux de Paris, France et Imagine Institute, INSERM U1163, Paris, France.
    Objectives: To estimate the prevalence rate of silent cranial and intracranial lesions in a series of Ollier-Maffucci patients.

    Patients And Methods: Cerebral MRI was routinely performed in Ollier-Maffucci patients followed-up in our tertiary centers. Patients with previous history of skull base or intracranial tumors were excluded from the study. Read More
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    Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia.
    Pediatr Blood Cancer 2017 Dec 24;64(12). Epub 2017 May 24.
    Department of Pediatrics, St. Luke's International Hospital, Tokyo, Japan.
    Maffucci syndrome is a nonhereditary disorder caused by somatic mosaic isocitrate dehydrogenase 1 or 2 (IDH1 or IDH2) mutations and is characterized by multiple enchondromas along with hemangiomas. Malignant transformation of enchondromas to chondrosarcomas and secondary neoplasms, such as brain tumors or acute myeloid leukemia, are serious complications. A 15-year-old female with Maffucci syndrome developed B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Read More
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    [Hereditary bone tumors].
    Pathologe 2017 May;38(3):179-185
    Institut für Pathologie, Knochentumor-Referenzzentrum, Universitätsspital Basel, Schönbeinstrasse 40, 4031, Basel, Schweiz.
    Hereditary bone tumors are rare and result from mutations affecting cell cycle regulation (e.g. retinoblastoma syndrome/RB1 and Li-Fraumeni syndrome/TP53, Gardner syndrome/APC), energy metabolism (enchondromatosis/IDH1/2), complex signaling cascades (multiple hereditary exostoses/EXT1/2) and DNA integrity (Rothmund-Thomson/RECQL4, Werner/WRN and Bloom syndromes/BLM). Read More
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    The association of enchondromatosis with malignant transformed chondrosarcoma and ovarian juvenile granulosa cell tumor (Ollier disease).
    Taiwan J Obstet Gynecol 2017 Apr;56(2):253-257
    Gynecologic Oncology Center, Department of Obstetrics and Gynecology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic. Electronic address:
    Objective: Ovarian juvenile granulosa cell tumor has an interesting association with multiple enchondromatosis (Ollier disease and Maffucci syndrome) and should be considered a leading diagnosis when an ovarian mass is found in young patients with these conditions. Besides the association with nonskeletal malignancies, there is a high risk of malignant transformation of enchondroma in chondrosarcoma as was also the case in this instance.

    Case Report: The report uses multiple images to document the representative and characteristic markers of multiple enchondromas in a 22-year-old patient with Ollier disease complicated by malignant transformation of chondrosarcoma and in whom the disease is associated with ovarian juvenile granulosa cell tumor of the right ovary. Read More
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    Large enchondroma of the thoracic spine: a rare case report and review of the literature.
    BMC Musculoskelet Disord 2017 04 13;18(1):155. Epub 2017 Apr 13.
    Spine Surgery, The First Affiliated Hospital of Guangzhou Medical University, 151 Yanjiang West Road, Guangzhou, 510000, China.
    Background: Enchondroma, a subtype of chondroma, originates from the medullary cavity of the bone and produces an expansile growth pattern. Enchondroma located in the spine is rare and a few cases of large thoracic enchondroma have been reported. The authors document a rare case of large enchondroma in the thoracic spine of a 49-year-old woman, and discuss its clinical, radiological and histopathological characteristics. Read More
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    Louis-Léopold-Xavier-Édouard Ollier (1830-1900): An Innovative Orthopedic Surgeon.
    Surg Innov 2017 Aug 9;24(4):402-404. Epub 2017 Apr 9.
    1 Biomedical Research Foundation, Academy of Athens, Athens, Greece.
    Louis-Léopold-Xavier-Édouard Ollier (1830-1900) was a pioneer in orthopedics considered as the founder of modern orthopedic surgery. He was a skillful and experimenter surgeon. He invented many new surgical techniques in orthopedic surgery and many new surgical instruments. Read More
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    ENCHONDROMATOSIS IN AN ADULT DOG.
    Vet Radiol Ultrasound 2017 Feb 24. Epub 2017 Feb 24.
    Hospital Clínic Veterinari, Universitat Autònoma de Barcelona, 08193, Barcelona, Spain.
    A 7-year-old crossbreed dog presented for lameness with diffuse soft tissue swelling in the right fore limb. Radiographs identified increased opacity of medullary cavity involving the radius and ulna. Whole-body computed tomography (CT) revealed mineral attenuation in the medullary cavity of multiple bones. Read More
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    Juvenile granulosa cell tumor associated with Ollier disease.
    Indian J Med Paediatr Oncol 2016 Oct-Dec;37(4):293-295
    Department of Pediatrics, Division of Pediatric Oncology, Bharati Vidyapeeth Medical College and Hospital, Pune, Maharashtra, India.
    Juvenile granulosa cell tumor (JGCT) is a rare neoplasm of childhood. Interestingly, it is known to be associated with Ollier disease, which is a rare bone disease characterized by multiple enchondromatosis. There is paucity of literature about the co-occurence of these two conditions. Read More
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    Genetics and genomics of ovarian sex cord-stromal tumors.
    Clin Genet 2017 Feb;91(2):285-291
    Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Clayton, Australia.
    Ovarian sex cord-stromal tumors (SCST) represent approximately 8% of malignant ovarian tumors. The most common are granulosa cell tumors (GCT) which account for approximately 90% of malignant SCST. Recent studies have unraveled the key genomic and genetic events contributing to their pathogenesis. Read More
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    Esophageal hemangiomatosis with chest CT revealing a fine, curvilinear, calcified thrombus within the esophagus simulating acute esophageal fishbone impaction: first reported endoscopic photograph of GI manifestations in Maffucci syndrome.
    Gastrointest Endosc 2017 06 6;85(6):1293-1294. Epub 2016 Oct 6.
    Division of Gastroenterology & Hepatology, Department of Internal Medicine, William Beaumont Hospital, Royal Oak, Michigan, USA.
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    Overgrowth Syndromes.
    J Pediatr Genet 2015 Sep 25;4(3):136-43. Epub 2015 Sep 25.
    Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States.
    Numerous multiple malformation syndromes associated with pathologic overgrowth have been described and, for many, their molecular bases elucidated. This review describes the characteristic features of these overgrowth syndromes, as well as the current understanding of their molecular bases, intellectual outcomes, and cancer predispositions. We review syndromes such as Sotos, Malan, Marshall-Smith, Weaver, Simpson-Golabi-Behmel, Perlman, Bannayan-Riley-Ruvalcaba, PI3K-related, Proteus, Beckwith-Wiedemann, fibrous dysplasia, Klippel-Trenaunay-Weber, and Maffucci. Read More
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    Genetic basis for vascular anomalies.
    Semin Cutan Med Surg 2016 Sep;35(3):128-36
    Johns Hopkins School of Medicine, Department of Dermatology, Baltimore, Maryland, USA.
    The fundamental genetics of many isolated vascular anomalies and syndromes associated with vascular anomalies have been elucidated. The rate of discovery continues to increase, expanding our understanding of the underlying interconnected molecular pathways. This review summarizes genetic and clinical information on the following diagnoses: capillary malformation, venous malformation, lymphatic malformation, arteriovenous malformation, PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, SOLAMEN syndrome, Sturge-Weber syndrome, phakomatosis pigmentovascularis, congenital hemangioma, verrucous venous malformation, cutaneomucosal venous malformation, blue rubber bleb nevus syndrome, capillary malformation-arteriovenous malformation syndrome, Parkes-Weber syndrome, and Maffucci syndrome. Read More
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    Multiple Enchondromas of the Hand in Children: Long-Term Follow-Up of Mean 15.4 Years.
    J Pediatr Orthop 2016 Sep 3. Epub 2016 Sep 3.
    *Department of Plastic Surgery ‡Health Sciences Research, Mayo Clinic, Rochester, MN †Orthopedic Division, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel §Department of Orthopedic Surgery, Assiut University Hospital, Assiut, Egypt.
    Background: Multiple enchodromatosis of bone, termed Ollier's disease, or Maffucci syndrome when associated with hemangiomas, is a rare disease that can affect the pediatric hand. This condition often causes a finger mass, deformity, pain and possible pathologic fractures, and has been associated with malignant transformation to chondrosarcoma. The aim of our study is to describe the long-term sequela of multiple enchondromatosis of the hand in the pediatric population, specifically the rates of malignant transformation, tumor recurrence, rates of pathologic fracture, and phalangeal growth arrest. Read More
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    Enchondroma of the Hand: Evaluation and Management.
    J Am Acad Orthop Surg 2016 Sep;24(9):625-33
    From the Department of Orthopaedic Surgery, UPMC Hamot, Erie, PA.
    Enchondroma is the most common primary bone tumor of the hand. This benign, cartilaginous tumor often presents as a pathologic fracture. When hand enchondroma is suspected, less common conditions, such as multiple enchondromatosis syndromes and benign and malignant lesions, should be ruled out. Read More
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    Fibrous Dysplasia with Massive Cartilaginous Differentiation (Fibrocartilaginous Dysplasia) in the Proximal Femur: A Case Report and Review of the Literature.
    Case Rep Oncol 2016 Jan-Apr;9(1):126-33. Epub 2016 Feb 19.
    Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan.
    Fibrous dysplasia (FD) is a monostotic or polyostotic benign bone lesion with spindle-cell proliferation in woven bone and stroma. Rarely, cartilaginous differentiation can be seen in the lesions of FD. FD with massive cartilaginous differentiation is called fibrocartilaginous dysplasia (FCD) and is considered a rare variant of FD. Read More
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    Testing for Hereditary Predisposition in Patients with Gynecologic Cancers, Quo Vadis?
    Surg Pathol Clin 2016 Jun 11;9(2):301-6. Epub 2016 Apr 11.
    Hereditary Cancer Program, Department of Molecular Oncology, BC Cancer Agency, 600 Wet 10th Ave, Vancouver, British Columbia V5Z 4E6, Canada; Department of Medical Genetics, University of British Columbia, 2329 West Mall, Vancouver, British Columbia V6T 1Z4, Canada.
    Genetic testing for a hereditary predisposition to gynecologic cancers has been available clinically since the 1990s. Since then, knowledge of the hereditary contribution to gynecologic cancers has dramatically increased, especially with respect to ovarian cancer. Although knowledge of the number of gynecologic cancer-predisposing genes has increased, the integration of genetic predisposition testing into routine clinical practice has been much slower. Read More
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    Gynecologic Manifestations of Less Commonly Encountered Hereditary Syndromes.
    Surg Pathol Clin 2016 Jun 11;9(2):269-87. Epub 2016 Apr 11.
    Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA. Electronic address:
    This review covers gynecologic manifestations that may occur in rare hereditary syndromes. Recent advances in disorders, such as hereditary leiomyomatosis, renal cell carcinoma syndrome and tuberous sclerosis complex, are discussed as well as lesions that occur in von Hippel-Lindau syndrome, nevoid basal cell carcinoma syndrome, Cowden syndrome, Ollier disease/Maffucci syndrome, and Carney complex. Characteristic clinicopathologic features of each of these syndromes are discussed with an emphasis on the key features that enable pathologists to identify patients at highest risk for these diseases. Read More
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    Hyper IgM Syndrome: a Report from the USIDNET Registry.
    J Clin Immunol 2016 Jul 17;36(5):490-501. Epub 2016 May 17.
    Icahn School of Medicine at Mount Sinai, New York, NY, USA.
    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. Read More
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    Frederik Ruysch (1638-1731): Historical perspective and contemporary analysis of his teratological legacy.
    Am J Med Genet A 2017 Jan 29;173(1):16-41. Epub 2016 Apr 29.
    Department of Anatomy, Embryology and Physiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
    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. Read More
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    Characteristics of gliomas in patients with somatic IDH mosaicism.
    Acta Neuropathol Commun 2016 Mar 31;4:31. Epub 2016 Mar 31.
    Hospices Civils de Lyon, Hôpital Neurologique, Service de Neuro-oncologie, 59 Bvd Pinel, 69394, Lyon, Cedex, France.
    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. Read More
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    Exostoses, enchondromatosis and metachondromatosis; diagnosis and management.
    Acta Orthop Belg 2016 Mar;82(1):102-5
    We describe a 5 years old girl who presented to the multidisciplinary skeletal dysplasia clinic following excision of two bony lumps from her fingers. Based on clinical examination, radiolographs and histological results an initial diagnosis of hereditary multiple exostosis (HME) was made. Four years later she developed further lumps which had the radiological appearance of enchondromas. Read More
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    Maffucci syndrome and neoplasms: a case report and review of the literature.
    BMC Res Notes 2016 Feb 27;9:126. Epub 2016 Feb 27.
    Department of Surgery, Klinikum rechts der Isar, Technical University, Ismaningerstrasse 22, 81675, Munich, Germany.
    Background: Maffucci syndrome is characterized by the sporadic occurrence of multiple enchondromas together with multiple hemangiomas. Patients with Maffucci syndrome are at increased risk of developing different kinds of malignant tumors.

    Case Presentation: We report on a 39-year-old woman who was diagnosed with Maffucci syndrome together with intrahepatic cholangiocarcinoma (IHCC). Read More
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    Multiple Enchondromatosis: Olliers Disease- A Case Report.
    J Clin Diagn Res 2016 Jan 1;10(1):TD01-2. Epub 2016 Jan 1.
    Assistant Professor, Department of Radiology, St. Johns National Academy of Medical Sciences , Sarjapur, Bangalore, India .
    Olliers disease is a rare disease characterized by widespread enchondromas with a unilateral predominance, in early childhood. The diagnosis is based on clinical and conventional radiological evaluations. The prognosis for olliers disease is difficult to assess. Read More
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    Patient Satisfaction After Limb Lengthening With Internal and External Devices.
    J Surg Orthop Adv 2015 ;24(3):174-9
    External fixation has long been used for limb lengthening but can result in many complications, such as tethering of the soft tissues, pain, decreased joint motion, scarring, and nerve injury. Recently, a controllable, telescopic, internal lengthening nail was developed to address many of these issues and hopefully improve the overall experience for the patient. The satisfaction rates of internal and external fixation for limb lengthening were compared in 16 patients, all of whom have experienced both methods. Read More
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    Maffucci Syndrome. An Interesting Case and a Review of the Literature.
    Bull Hosp Jt Dis (2013) 2015 Dec;73(4):282-5
    Maffucci syndrome, a rare sporadic form of enchondromatosis, is characterized by hemangiomas and multiple enchondromas, benign cartilaginous tumors that arise near growth plates. Previous studies demonstrate that individuals diagnosed with Maffucci syndrome have approximately 100% lifetime risk of malignant transformation. Identification of Maffucci syndrome by surgical excision and pathological diagnosis can be life-saving due to its high malignant potential relative to other subtypes of enchondromatosis such as Ollier's disease. Read More
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    Three different methods for treating multiple enchondromatosis in one hand.
    Int J Clin Exp Med 2015 15;8(8):13417-20. Epub 2015 Aug 15.
    Department of Orthopedics, The First Affiliated Hospital, College of Medicine, Zhejiang University #79 Qingchun Road, Hangzhou 310003, Zhejiang Province, P. R. China.
    Ollier's disease remains comparatively rare, and is a non-hereditary cartilage dysplasia of bone. It is usually associated with problems such as deformity and fracture. Three different methods were used in a one-hand of 15-year-old boy reporting his pain in the left hand and swellings. Read More
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    Somatic mosaic mutations of IDH1 and NPM1 associated with cup-like acute myeloid leukemia in a patient with Maffucci syndrome.
    Int J Hematol 2015 Dec 27;102(6):723-8. Epub 2015 Oct 27.
    Research Center for Medical Science, Core Research Facilities for Basic Science, The Jikei University School of Medicine, Tokyo, Japan.
    Maffucci syndrome is a nonhereditary congenital disorder characterized by multiple enchondromas and with soft-tissue hemangiomas. Somatic mutations of the isocitrate dehydrogenase (IDH) gene have been detected in enchondroma and hemangioma tissue from patients with Maffucci syndrome. The rate of malignant transformation in Maffucci syndrome is high, with enchondromas transforming into chondrosarcomas and the development of secondary neoplasms, including pancreatic and hepatic adenocarcinoma, mesenchymal ovarian tumors, and brain tumors such as glioma. Read More
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    Somatic IDH1 mutation in a pituitary adenoma of a patient with Maffucci syndrome.
    J Neurosurg 2016 Jun 16;124(6):1562-7. Epub 2015 Oct 16.
    National Institute of Neurological Disorders and Stroke, Surgical Neurology Branch, National Institutes of Health, Bethesda, Maryland.
    Maffucci syndrome is a rare disease characterized by multiple enchondromas and soft-tissue hemangiomas. Additionally, neuroendocrine tumors including pituitary adenomas have been described in these patients. The underlying genetic etiology lies in somatic mosaicism of mutations in isocitrate dehydrogenase 1 (IDH1) or isocitrate dehydrogenase 2 (IDH2). Read More
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    Ollier's Disease with Myelodysplastic Syndrome.
    J Coll Physicians Surg Pak 2015 Oct;25(10):774-5
    Department of Paediatrics. Lahore General Hospital/PGMI, Lahore.
    Ollier's disease also known as enchondromatosis is a rare skeletal disorder that is usually sporadic, non-hereditary, and characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth (congenital); it may not become apparent until early childhood with more obvious symptoms, such as deformities or improper limb growth. It carries high risk of skeletal, visceral and brain malignancy seen in approximately 25% of patients. Read More
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    Paediatric chondrosarcomas: a retrospective review of 17 cases.
    Histopathology 2016 Jun 25;68(7):1073-8. Epub 2015 Nov 25.
    Department of Pathology, Rizzoli Institute, Bologna, Italy.
    Aims: Chondrosarcoma is primarily a tumour of adulthood and old age. Some studies indicate that survival is worse in paediatric than in adult chondrosarcomas. In view of the rarity of paediatric chondrosarcoma, few large studies are currently available. Read More
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