904 results match your criteria Maffucci Syndrome


Unsatisfactory response to sirolimus in Maffucci syndrome-associated spindle cell hemangiomas.

Dermatol Ther 2019 Feb 5:e12851. Epub 2019 Feb 5.

Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.

Maffucci syndrome is characterized by multiple benign vascular anomalies and enchondromas present on the distal extremities. Effective treatment options are currently not available for Maffucci syndrome-associated vascular lesions. Sirolimus is a mTOR pathway inhibitor, and has been tried successfully in the treatment of various vascular anomalies. Read More

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http://dx.doi.org/10.1111/dth.12851DOI Listing
February 2019

Maffucci syndrome complicated by three different central nervous system tumors sharing an IDH1 R132C mutation: case report.

J Neurosurg 2018 Dec 21:1-6. Epub 2018 Dec 21.

Departments of1Neurosurgery and.

Maffucci syndrome (MS) and Ollier disease (OD) are nonhereditary congenital diseases characterized by multiple enchondromas and/or chondrosarcomas. Recent studies have implicated somatic mosaic mutations of isocitrate dehydrogenase 1 or 2 (IDH1/2) as contributing to the pathogenesis of MS and OD. Occasionally, patients with these disorders may also present with central nervous system (CNS) tumors; however, detailed genetic analyses are limited. Read More

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http://dx.doi.org/10.3171/2018.6.JNS18729DOI Listing
December 2018
2 Reads

Molecular profiling of different glioma specimens from an Ollier disease patient suggests a multifocal disease process in the setting of IDH mosaicism.

Brain Tumor Pathol 2018 Oct 29;35(4):202-208. Epub 2018 Aug 29.

Department of Pathology, Duke University Medical Center 3712, Davison Building, Durham, NC, 27710, USA.

Ollier disease (OD) and Maffucci syndrome are rare conditions due to a post-zygotic somatic mutation that results in mosaicism. In addition to enchondromas and hemangiomas, some of these patients also develop other unrelated tumors, such as gliomas, that harbor IDH mutations, suggesting that an IDH mutation is a common genetic event in the tumorigenesis in this group of patients. We illustrate an interesting case of multifocal IDH-mutant astrocytomas in an OD patient with 8 years of follow-up. Read More

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http://dx.doi.org/10.1007/s10014-018-0327-yDOI Listing
October 2018
2 Reads

Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in .

Mol Syndromol 2018 May 24;9(3):134-140. Epub 2018 Apr 24.

Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, Istanbul, Turkey.

Dysspondyloenchondromatosis (DSC) is a rare form of generalized enchondromatosis and characterized by short stature with unequal limb length, multiple enchondromas in metaphyseal and diaphyseal parts of the long tubular bones, and progressive kyphoscoliosis. Although the gene mutation was found to be responsible for DSC, a case of DSC with no pathogenic mutation in the gene has also been reported, suggesting that the condition is genetically heterogeneous. Here, we report 2 novel heterozygous mutations in in 2 patients with DSC. Read More

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http://dx.doi.org/10.1159/000488438DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006654PMC
May 2018
2 Reads

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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http://link.springer.com/10.1007/s00256-018-2963-z
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http://dx.doi.org/10.1007/s00256-018-2963-zDOI Listing
May 2018
12 Reads

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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http://dx.doi.org/10.1097/MD.0000000000010512DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5944487PMC
April 2018
6 Reads

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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http://dx.doi.org/10.4103/ijdvl.IJDVL_547_17DOI Listing
April 2018
7 Reads

Surgical Treatment of Enchondromas of the Hand During Childhood in Ollier Disease.

J Hand Surg Am 2018 Oct 16;43(10):946.e1-946.e5. Epub 2018 Mar 16.

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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http://dx.doi.org/10.1016/j.jhsa.2018.02.010DOI Listing
October 2018
2 Reads

Chondrosarcomas of the phalanges of the hand.

Eklem Hastalik Cerrahisi 2018 Apr;29(1):34-9

Department of Orthopedics and Traumatology, Oncology Training and Research Hospital, 06200 Demetevler, Ankara, Turkey.

Objectives: This study aims to evaluate the diagnosis and treatment approaches of the rarely seen chondrosarcomas of the phalanges of the hand.

Patients And Methods: Fifty-two patients (27 males, 25 females; mean age 41.2 years; range 12 to 70 years) with chondroid lesions localized in hand phalanges who were performed surgical treatment between December 2012 and September 2016 were retrospectively reviewed. Read More

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http://dx.doi.org/10.5606/ehc.2018.58876DOI Listing
April 2018
9 Reads

A child with a painless, deformed wrist.

BMJ 2018 02 14;360:k246. Epub 2018 Feb 14.

Trauma and orthopaedics department, St George's University Hospitals NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1136/bmj.k246DOI Listing
February 2018
3 Reads

History and highlights of the teratological collection in the Museum Anatomicum of Leiden University, The Netherlands.

Am J Med Genet A 2018 03 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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http://dx.doi.org/10.1002/ajmg.a.38617DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838553PMC
March 2018
4 Reads

The role of metabolic enzymes in mesenchymal tumors and tumor syndromes: genetics, pathology, and molecular mechanisms.

Lab Invest 2018 04 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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http://dx.doi.org/10.1038/s41374-017-0003-6DOI Listing
April 2018
13 Reads
3.680 Impact Factor

[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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http://dx.doi.org/10.1007/s00104-017-0572-3DOI Listing
April 2018
5 Reads

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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http://dx.doi.org/10.1210/js.2016-1018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5677212PMC
January 2017
14 Reads

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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http://link.springer.com/10.1007/s10014-017-0303-y
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http://dx.doi.org/10.1007/s10014-017-0303-yDOI Listing
January 2018
9 Reads

[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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December 2017
5 Reads

Radiographic features of Ollier's disease - two case reports.

BMC Med Imaging 2017 12 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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http://dx.doi.org/10.1186/s12880-017-0230-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5712181PMC
December 2017
13 Reads
0.983 Impact Factor

Ollier Disease of the Lateral Skull Base.

Otol Neurotol 2018 01;39(1):e52-e53

Department of Otolaryngology, Head and Neck Surgery, Loyola University Medical Center, Maywood, Illinois.

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http://dx.doi.org/10.1097/MAO.0000000000001651DOI Listing
January 2018
1 Read

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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https://diagnosticpathology.biomedcentral.com/articles/10.11
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http://dx.doi.org/10.1186/s13000-017-0670-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681755PMC
November 2017
10 Reads

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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http://doi.wiley.com/10.1002/gcc.22501
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http://dx.doi.org/10.1002/gcc.22501DOI Listing
December 2017
22 Reads

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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http://dx.doi.org/10.1016/j.path.2017.04.009DOI Listing
September 2017
5 Reads

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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http://dx.doi.org/10.1016/j.clineuro.2017.07.011DOI Listing
September 2017
19 Reads

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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http://dx.doi.org/10.1002/pbc.26647DOI Listing
December 2017
18 Reads

[Hereditary bone tumors].

Authors:
D Baumhoer

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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http://dx.doi.org/10.1007/s00292-017-0284-yDOI Listing
May 2017
4 Reads

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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http://dx.doi.org/10.1016/j.tjog.2017.02.002DOI Listing
April 2017
17 Reads

Ollier's disease: features of the hands.

BMJ Case Rep 2017 Apr 17;2017. Epub 2017 Apr 17.

Cappagh National Orthopaedic Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1136/bcr-2017-220009DOI Listing
April 2017
11 Reads

Multiple Tumors on the Extremities: Challenge.

Am J Dermatopathol 2018 Aug;40(8):e111

Departments of Dermatology, and.

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http://dx.doi.org/10.1097/DAD.0000000000000852DOI Listing
August 2018
1 Read

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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http://dx.doi.org/10.1186/s12891-017-1519-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390427PMC
April 2017
4 Reads

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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http://dx.doi.org/10.1177/1553350617702310DOI Listing
August 2017
3 Reads

ENCHONDROMATOSIS IN AN ADULT DOG.

Vet Radiol Ultrasound 2018 Sep 24;59(5):E50-E55. 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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http://dx.doi.org/10.1111/vru.12487DOI Listing
September 2018
3 Reads

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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http://dx.doi.org/10.4103/0971-5851.195749DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5234168PMC
February 2017
10 Reads

Maffucci syndrome with multiple hand calcifications.

Joint Bone Spine 2017 Oct 25;84(5):621. Epub 2016 Nov 25.

Department of internal medicine, Hospital University Tidjani Damerdji, 13000 Tlemcen, Algeria; Faculty of Medical Sciences, 13000 Tlemcen, Algeria.

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http://dx.doi.org/10.1016/j.jbspin.2016.11.007DOI Listing
October 2017
5 Reads

Nodules on the Hands and Musculoskeletal Abnormalities.

Actas Dermosifiliogr 2017 11 9;108(9):861-862. Epub 2016 Dec 9.

Servicio de Anatomía Patológica, Hospital Universitario Doctor Peset, Valencia, España.

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http://dx.doi.org/10.1016/j.ad.2016.05.021DOI Listing
November 2017
4 Reads

A Neolithic case of fibrous dysplasia from Çatalhöyük (Turkey).

Int J Paleopathol 2016 12 24;15:10-18. Epub 2016 Sep 24.

UMR 5199 PACEA, Université de Bordeaux, Bâtiment B8, Allée Geoffroy Saint Hilaire, CS 50023, Pessac Cedex 33615, France. Electronic address:

The vast majority of primary burials at Neolithic Çatalhöyük (Central Anatolia, Turkey, 7100-6000cal BC) are recovered from beneath house floors, with burials in external spaces extremely rare. Excavations at Çatalhöyük in 1998 brought to light a young adult male buried in a midden (a burial location observed so far for only 4 out of 440 individuals), showing a suite of pathological features affecting the entire skeleton. The observed pathological changes include perimortem and antemortem fractures, proliferative and resorptive areas, thinning of the bone cortex, and localized areas of disorganized spongy bone invaded by fibrous tissue. Read More

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http://dx.doi.org/10.1016/j.ijpp.2016.09.001DOI Listing
December 2016
2 Reads

Genetics and genomics of ovarian sex cord-stromal tumors.

Clin Genet 2017 02;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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http://doi.wiley.com/10.1111/cge.12917
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http://dx.doi.org/10.1111/cge.12917DOI Listing
February 2017
15 Reads

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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http://dx.doi.org/10.1016/j.gie.2016.09.039DOI Listing
June 2017
7 Reads

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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http://dx.doi.org/10.1055/s-0035-1564440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918719PMC
September 2015
6 Reads

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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http://dx.doi.org/10.12788/j.sder.2016.051DOI Listing
September 2016
21 Reads

Multiple Enchondromas of the Hand in Children: Long-Term Follow-Up of Mean 15.4 Years.

J Pediatr Orthop 2018 Nov/Dec;38(10):543-548

Department of Plastic Surgery.

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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http://dx.doi.org/10.1097/BPO.0000000000000869DOI Listing
December 2018
16 Reads

[A case report of multiple enchondromatosis].

Zhongguo Gu Shang 2016 Jun;29(6):573-5

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June 2016
4 Reads

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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http://dx.doi.org/10.5435/JAAOS-D-15-00452DOI Listing
September 2016
3 Reads

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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http://dx.doi.org/10.1159/000443476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4899633PMC
June 2016
14 Reads

[Multiple enchondromatosis, Ollier disease].

An Pediatr (Barc) 2017 Sep 7;87(3):176-177. Epub 2016 Jun 7.

Servicio de Traumatología, Hospital Infantil Universitario Niño Jesús, Madrid, España.

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http://dx.doi.org/10.1016/j.anpedi.2016.04.011DOI Listing
September 2017
7 Reads

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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http://dx.doi.org/10.1016/j.path.2016.01.009DOI Listing
June 2016
5 Reads

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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http://dx.doi.org/10.1016/j.path.2016.01.008DOI Listing
June 2016
4 Reads

Hyper IgM Syndrome: a Report from the USIDNET Registry.

J Clin Immunol 2016 07 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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http://dx.doi.org/10.1007/s10875-016-0291-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5039943PMC
July 2016
46 Reads

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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http://dx.doi.org/10.1002/ajmg.a.37663DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5215407PMC
January 2017
21 Reads

Multiple enchondromas and skin angiomas: Maffucci syndrome.

Lancet 2016 Aug 29;388(10047):905. Epub 2016 Mar 29.

Department of Experimental and Clinical Medicine, Institute of Dermatology, University of Udine, Udine, Italy.

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http://dx.doi.org/10.1016/S0140-6736(16)00088-XDOI Listing
August 2016
14 Reads

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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http://dx.doi.org/10.1186/s40478-016-0302-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4818526PMC
March 2016
12 Reads

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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March 2016
7 Reads