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61. Multiple Enchondroma Diseases / Family Village
Related Disorders Ollier s Disease, Multiple enchondromatosis, Multiple Cartilaginous, Ollier Osteochondromatosis, Unilateral Chrondromatosis, or Muffucci
Multiple Enchondroma Diseases
Related Disorders: Ollier's Disease, Multiple Enchondromatosis, Multiple Cartilaginous, Ollier Osteochondromatosis, Unilateral Chrondromatosis, or Muffucci Syndrome.
Who to Contact
Where to Go to Chat with Others

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Web Sites
Search Google for "Multiple Enchondroma Diseases"
Who to Contact
American Association of Multiple Enchondroma Diseases (previously Ollier/Maffucci Self-Help Group)
357 Redwood Road
Venice, FL 34293
Web: Founded in 1998, incorporated in 2002 as a not-for-profit corporation and registered as a tax exempt organization with the US Internal Revenue Service, AAMED is comprised of individuals with Ollier's disease, Maffucci's syndrome, enchondromatosis, their families, and physicians. AAMED is THE source for news and information about bone tumor diseases, research and services for adults and children with Enchondromatosis, Multiple Enchondroma, Ollier's disease, Maffucci's syndrome, and their families.On this site, you'll find links to our quarterly newsletters, message board, pen-pal program for children, latest research information, and much more. We invite interested persons to become part of group. Click on the membership link for more information on joining us.
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62. Ollier's Disease (
Synonyms Chondrodysplasia, dyschondroplasia, enchondromatosis, hemichondrodysplasia, hemichondrodystrophy, internal chondromatosis, multiple enchondromata


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Eponyms A-Z

Biographies by country
Contact does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.
Ollier's disease Synonyms:
Chondrodysplasia, dyschondroplasia, enchondromatosis, hemichondrodysplasia, hemichondrodystrophy, internal chondromatosis, multiple enchondromata, multiple enchondromatosis, multiple enchondromata syndrome, osteochondromatosis syndrome.
Associated persons: Angelo Maffucci Louis Xavier Édouard Léopold Ollier Description: A disorder of the growing ends of bones in which round nonossified cartilaginous masses scattered throughout the skeleton produce asymmetrical and very variable deformities, asymmetric leg shortening being common. The lesions are first noted from 1 to 4 years of age, rarely at birth, with little progression after adolescence. Both sexes may be affected. The majority of cases have been sporadic but a familial tendency has been reported in a few instances. Enchondromatosis is usually bilateral. The term Ollier syndrome applies in cases with unilateral involvement. The combination of multiple enchondromata with haemangiomata and phleboliths is known as Maffucci syndrome.

63. Enchondromatosis
PDF Rehabilitation experience in a case of Ollier’s disease
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64. Bone Pathology
5. enchondromatosis (Ollier s Disease). rare disorder of skeletal development characterized by the presence of multiple circumscribed foci or masses of
web hosting domain names email addresses BONE PATHOLOGY
Bone Pathology Hereditary Disorders Infections and Fractures Metabolic Diseases Primary Bone Disease Bone Tumors
Hereditary Disorders
Osteogenesis imperfecta Osteopetrosis Osteochondroma Achondroplaisa
Congenital and Hereditary Bone Disorders
Achondroplasia Osteogenesis Imperfecta (Brittle Bones, Fragilitas Ossium) Osteopetrosis (Marble Bone Disease, Osteosclerosis) Hereditary Multiple Exotosis (Osteochondromatosis) Enchondromatosis (Ollier's Disease
Infections and Fractures Pyogenic osteomyelitis [Hematogenous (Pyogenic) Osteomyelitis] Tuberculosis
Osteomyelitis from a Contiguous Infection Osteomyelitis from an Introduced Infection Bone Tuberculosis Bone Syphilis Fungus Infections of Bone
Metabolic Diseases Osteoporosis Osteoporosis Osteoporosis Tensynovitis Scurvy Paget's Disease Paget's Disease of Bone (Osteitis Deformans] Rickets and Osteomalacia Bone Changes in Hyperparathyroidism (Generalized Osteitis Fibrosa Cystica, Von Recklinghausen's Disease of Bone) Renal Osteodystrophy
Primary Bone Disease Hypertrophic Osteoarthropathy Fibrous Lesions Cysts
Bone Tumors Plasma Cell Myeloma Metastatic Disease Osteogenic Lesions Benign Cartilaginous Tumors Bone-Forming Tumors Tumors of Unknown Histogenesis Miscellaneous Tumors and Tumor-like Lesions of Bone Other Nonneoplastic Disorders of Bone Fibrous Dysplasia of Bone Fibrous Cortical Defect and Nonossifying Fibroma Solitary Bone Cyst (Unicameral Bone Cyst) Aneurysmal Bone Cyst Eosinophilic Granuloma of Bone Bone Lesions of Gaucher's Disease

65. Health Conditions And Diseases Rare Disorders Ollier Disease
Fee required for full report Virtual Children s Hospital enchondromatosis Clinical presentation, etiology and imaging findings.
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66. MedPix™ Radiology Teaching Files, Cases, And Medical Image
Case Summary 4228 - - Contributed by Maria Flynn ( National Capital Consortium ) - - Author Info Diagnosis enchondromatosis (Ollier’s disease¬hing=

67. MedPix™ Radiology Teaching Files, Cases, And Medical Image
Case Summary 4314 - - Contributed by Fred R Brandon ( National Capital Consortium ) - - Author Info Diagnosis enchondromatosis (Ollier s disease¬hing=

68. OMSG Vorstellung
length of my arms. Dr. med. Jost Zemp, a surgeon in Lucerne, Switzerland, diagnosed the disease as enchondromatosis. It was in my
home Leben
Brief zur Vorstellung der Person bei der
Abgedruckt im Newsletter 1/2003 in Dear ladies and gentleman
Dear Hermann Schmid Thank you for the kind answer to my registration form mail. Because there was not enough place to write what I wanted, I enounced a larger email. Here it is: Four years after my birth on January 6, 1957, my parents noticed a difference in the length of my arms. Dr. med. Jost Zemp, a surgeon in Lucerne, Switzerland, diagnosed the disease as enchondromatosis. It was in my right hand, right forearm, right upper arm, right shoulder, right rib, right hip, and, as an exception, also in my left shoulder and left upper arm. The right upper and lower arms are about 20% shorter than normal for my size; the left upper arm is also about 20% shorter. Hence, my right arm is shorter than the left. From 1962 to 1972, all mentioned parts of my body underwent some surgical procedure to rectify what could be rectified. But until a few years ago I probably never heard the names of Morbus Ollier or Maffucci. When I was nineteen, Dr. Zemp attempted to operate on my left shoulder, "just as a beauty correction". However, due to the instability of the bones he had to halt the surgery.

69. A Mutant PTH/PTHrP Type I Receptor In Enchondromatosis
in an R150C substitution in the extracellular domain of PTHR1 in enchondroma specimens from two of six individuals with enchondromatosis (Ollier disease).
Published online: 19 February 2002, doi:10.1038/ng844
volume 30 no. 3 pp 306 - 310
A mutant PTH/PTHrP type I receptor in enchondromatosis
Sevan Hopyan , Nalan Gokgoz , Raymond Poon , Robert C. Gensure , Chunying Yu , William G. Cole , Robert S. Bell , Irene L. Andrulis , Jay S. Wunder
Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis (Ollier and Maffucci diseases). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to chondrosarcoma . The extent of skeletal involvement is variable in enchondromatosis and may include dysplasia that is not directly attributable to enchondromas . Enchondromatosis is rare, obvious inheritance of the condition is unusual and no candidate loci have been identified. Enchondromas are usually in close proximity to, or in continuity with, growth-plate cartilage. Consequently, they may result from abnormal regulation of proliferation and terminal differentiation of chondrocytes in the adjoining growth plate. In normal growth plates, differentiation of proliferative chondrocytes to post-mitotic hypertrophic chondrocytes is regulated in part by a tightly coupled signaling relay involving parathyroid hormone related protein (PTHrP) and Indian hedgehog (IHH) . PTHrP delays the hypertrophic differentiation of proliferating chondrocytes, whereas IHH promotes chondrocyte proliferation. We identified a mutant PTH/PTHrP type I receptor (PTHR1) in human enchondromatosis that signals abnormally

70. List Of Rare Diseases Starting With E
Encephalophathy recurrent of childhood; Encephalotrigeminal angiomatosis; enchondromatosis (benign); enchondromatosis dwarfism deafness;
Main Page See live article Alphabetical index
List of rare diseases starting with E
This list of rare diseases was originally taken from the NIH public domain resource at A B C ... D E F G H I ... Z
  • EAF Eales disease Ear, patella, short stature syndrome Earlobes thickened conductive deafness Early infantile autism Ebola virus disease Ebstein's anomaly Eccentrochondrodysplasia Eccrine acrospiroma Eclampsia Ecp syndrome Ectodermal dysplasia absent dermatoglyphics Ectodermal dysplasia adrenal cyst Ectodermal dysplasia alopecia preaxial polydactyly Ectodermal dysplasia anhidrotic Ectodermal dysplasia arthrogryposis diabetes mellitus Ectodermal dysplasia Bartalos type Ectodermal dysplasia Berlin type Ectodermal dysplasia blindness Ectodermal dysplasia ectrodactyly macular dystrophy Ectodermal dysplasia hypohidrotic autosomal dominant Ectodermal dysplasia hypohidrotic hypothyroidism ciliary diskinesia Ectodermal dysplasia Margarita type Ectodermal dysplasia mental retardation CNS malformation Ectodermal dysplasia mental retardation syndactyly Ectodermal dysplasia neurosensory deafness Ectodermal dysplasia osteosclerosis Ectodermal dysplasia tricho odonto onychial type Ectodermal dysplasia, hydrotic

71. Bone Tumor, Primary Malignant » Medical Diagnosis
RISK FACTORS • Multiple enchondromatosis (Ollier s disease) chondrosarcoma • Multiple hereditary exostosis - chondrosarcoma • Previous irradiation,_primary_maligna
Medical Diagnosis



Bone tumor, primary malignant
Bone tumor, primary malignant
Primary malignant bone tumors are rare. Four types make up the majority.
System(s) affected: Musculoskeletal
Incidence/Prevalence in USA:

Rare: 5000 bone and soft tissue sarcomas per year, a practicing orthopedic surgeon may see one primary malignant tumor of bone in every five years of practice. Ewing's sarcoma is less common in blacks.
Predominant age:
Predominant sex:
Male = Female
Drugs that may alter lab results: N/A Disorders that may alter lab results: N/A
Inpatient surgery
Varies with stage of disease and treatment
No special diet
Refer to local branch of American Cancer Society for information and support groups
These drugs are administered according to specific protocols. Other protocols may be appropriate.

72. CancerGene PTHR1
Hopyan S;Gokgoz N;Poon R;Gensure RC;Yu C;Cole WG;Bell RS;Juppner H;Andrulis IL;Wunder JS;Alman BA A mutant PTH/PTHrP type I receptor in enchondromatosis.
Search CancerGene CancerGene Homepage Search CancerGene Citations
CancerGene Card Symbol
Aliases PTHR Name
parathyroid hormone receptor 1
GDB SwissProt LocusLink
  • Class METASTASIS Diseases Breast Neoplasms Note PTHRP-R is frequently expressed in breast cancer bone metastases and promotes proliferation in breast carcinoma cells via autocrine signals that are mediated via cAMP and ERK pathways ( PMID:12592371
    • Selected MEDLINE References: [Link to NCBI] [Link to CancerGene Citation Database] Recent Articles : Hoey RP;Sanderson C;Iddon J;Brady G;Bundred NJ;Anderson NG
      The parathyroid hormone-related protein receptor is expressed in breast cancer bone metastases and promotes autocrine proliferation in breast carcinoma cells.
      Br J Cancer 2003 Feb 24;88(4):567-73. Mahon MJ;Donowitz M;Yun CC;Segre GV
      Na(+)/H(+ ) exchanger regulatory factor 2 directs parathyroid hormone 1 receptor signalling. Nature 2002 Jun 20;417(6891):858-61. Minagawa M;Yasuda T;Watanabe T;Minamitani K;Takahashi Y;Goltzman D;White JH;Hendy GN;Kohno Y Association between AAAG repeat polymorphism in the P3 promoter of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene and adult height, urinary pyridinoline excretion, and promoter activity.

Fee required for full report. » Virtual Children s Hospital enchondromatosis Clinical presentation, etiology and imaging findings.
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74. Heilpflanzen-Welt - Die Welt Der Heilpflanzen!
enchondromatosis, Ollier’s disease, hereditary deforming chondrodysplasia, multiple enchondromatosis, multiple congenital enchondroma, skeletal

75. Ollier Disease
enchondromatosis, or multiple enchondromas, refers to a group of disorders of which Ollier disease is the best known. This is nonhereditary

Up Neurofibromatosis Pyknodysostosis ... Multiple hereditary exostoses [ Ollier disease ] Achondroplasia Diastrophic dwarfism Chondrodysplasia punctata Thanatophoric dwarfism ... Dyschondrosteoses Enchondromatosis, or multiple enchondromas, refers to a group of disorders of which Ollier disease is the best known. This is nonhereditary disorder which usually presents in childhood. Nominally, the disease consists of multiple enchondromas. However, on radiographs, streaks of low density are seen projecting through the diaphyses into the epiphyses of the long bones, due to ectopic cartilage deposits. With age, the cartilage may calcify in the typical "snowflake" pattern. The affected extremity is shortened (asymmetric dwarfism) and sometimes bowed due to epiphyseal fusion anomalies. Patients are at risk for development of sarcomas, specifically osteosarcomas and chondrosarcomas. These occur in approximately 25 % of patients. Mafucci syndrome represents enchondromatosis with oft tissue hemangiomas, usually in the hands and feet. As with Ollier disease, there is typically a shortening of the long bones. These patients are at higher risk for sarcomatous transformation of both the vascular and cartilaginous portions of the disease. REFERENCES Flemming DJ, Murphey MD. Enchondroma and chondrosarcoma. Semin Musculoskelet Radiol. 2000;4(1):59-71.

76. Hand Case Of The Week #10-99 Aug 8 1999
Discussion. The patient has Maffucci s syndrome, also referred to as multiple congenital enchondromatosis or hemangiomatosis osteolytica.
Hand Case of the Week #10-99 Aug 8 1999
Cases of the Week Mailbase Case of the Week pages are archived to provide image embedded pages at Share your most valuable asset - your knowledge and experience! Submit your case of the week to
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Sheba Medical Center, Israel Thanks!
The Case History The patient is a 23 year old woman whose right upper extremity is affected by a ...syndrome. She has restricted finger motion. Lately the 4th (ring) digit tip is very painful. The tip of the 4th finger is prominent, red, very sensitive to touch, hypotrophic nail, consistency very soft. What to do? Radiographs And again, the ring fingertip: You might like to run a search. Click on the links below to search for: Discussion The patient has Maffucci's syndrome, also referred to as multiple congenital enchondromatosis or hemangiomatosis osteolytica. Maffucci's syndrome is a congenital nonfamilial syndrome combining neuro-ectodermal dyschondroplasia, (enchondromatosis) and multiple soft tissue hemangiomas (hemangiomatosis). It is a rare disease; only 200 cases have been reported throughout the world in the past 140 years. These tumors typically present in early childhood with pain and heaviness of the involved extremity and may lead to significant skeletal deformities. It is associated with chondrosarcoma and vascular origin sacomas, intracranial tumors, and with vascular nasopharyngeal and airway tumors which may lead to intubation related bleeding. Malignant transformations are a common feature of this syndrome and have been reported in approximately 30% of reported cases, with chondrosarcomas being the most common.

77. October 1998 Discussion
Diagnosis enchondromatosis (Ollier s disease). Findings When enchondromatosis is associated with multiple hemangioma it is called Maffucci s syndrome.
Case of the Month ( October 1998 )
  • 5 year old girl. Similar lesions seen in multiple bones
Diagnosis: Enchondromatosis (Ollier's disease). Findings: Both knee joints AP view and Left knee magnified view A bone lesion with multiple linear channel like elongated radiolucencies are seen in the left lower femoral meta-diaphyseal region. Note the shortening and lateral bowing of the left femur. Another lesion of smaller size is also seen in the upper left tibia. Similar lesions were also seen in other bones. Discussion: Ollier's disease is characterized by multiple enchondromas distributed throughout the tubular and flat bones of the body. They involve one side of body either exclusively or predominantly. Affected bones are shortened and deformed. In childhood these lesions are subject to pathologic fractures and in adults (over 50 years of age) they are at risk of malignant transformation. Typically, patients present in the first decade with palpable bone masses, asymmetric shortening of extremities and osseous deformities related to fractures. On radiographs

78. - Maffucci's Syndrome
Ollier’s disease, also known as enchondromatosis, shows a strong predilection for the small bones in the hands and toes (phalanges) and the long bones behind

79. Tumors ChondromaID5147.txt
The nonerheditary syndrome of multiple enchondromas or enchondromatosis is known as Ollier s disease. enchondromatosis associated
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Home Genes Leukemias Solid Tumours ... NA
Bone: Chondroma
Identity Note Chondroma is an uncommon benign tumour which characteristically forms mature cartilage. It is found mostly in the small bones of the hand and/or feet, although it can also occur in long, tubular bones, primarily the humerus, femur and ribs. Occasionally, focal areas of mixoid degeneration may result in a mistaken diagnosis of chondrosarcoma. Classification Chondromas are classified according to their location:
  • enchondroma: within the bone (within the medullary cavity),
  • periosteal chondroma: on the surface of the bone,
  • soft tissue chondroma in the soft tissue. Clinics and Pathology Disease Enchondroma Note Fig: Enchondroma in the distal portion of the femur shaft. (courtesy of Dr Henry DeGroot at
    Enchondroma is usually a solitary benign lesion in intramedullary bone. Usually asymptomatic, it is incidentally discovered as a palpable bony nodule. Rarely, causes soft tissue swelling and pain at the lesion site. Pain can be a sign of pathologic fracture. Both sex are equally affected, and any age group can be involved. It is thought to develop from epiphyseal cartilage rests that subsequently proliferate and slowly enlarge. Approximately 50% of solitary enchondromas are found in the hands, typically in the middle and distal portions of the metacarpals and the proximal portions of the phalanges, 10% in the feet, 20% in the proximal and distal parts of the femur and the proximal part of the humerus.
  • 80. Children's Mercy Hospitals And Clinics
    These protuberances undergo ossification. Maffucci Syndrome A syndrome of enchondromatosis, bone deformities, hemangiomas, and phlebolithiasis.

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