Enchondromatosis is a term encompassing several disorders distinguished by the formation of multiple cartilaginous benign tumors, enchondromas. Ollier disease and Maffucci syndrome are the two most important forms of enchondromatosis, and symptoms, when present, include the presence of palpable bony masses in distal extremities, primarily in fingers or toes. Depending on the subtype of enchondromatosis, a number of skeletal-related symptoms may be encountered. Clinical, radiologic, and genetic studies are necessary to make the diagnosis.
Defined as a benign tumor of hyaline cartilage that arises in the metaphyseal parts of the bone, an enchondroma is mentioned as a constitutive feature of various disorders, one of them being enchondromatosis, a group of diseases characterized by the presence of multiple enchondromas together with various accompanying features     . Although more than 10 disorders have been described in the literature (the majority being non-hereditary), the two most important and most common are Ollier disease and Maffucci syndrome    :
- Ollier disease - With a prevalence rate of 1 in 100,000 newborns, Ollier disease has a highly variable number of enchondromas, their location, and the age of onset  . In the majority of cases, however, the clinical presentation starts in early childhood as asymmetric limb shortening, limping, and multiple bony masses that are easily palpated  . Enchondromas typically develop in the fingers and toes, but virtually all bones in the body (except the rib cage), including the long tubular bones (tibia, femur, fibula) and the pelvis, have been reported as potential tumor locations   . Pathological fractures, although less common, is an important symptom as well .
- Maffucci syndrome - In addition to the signs and symptoms seen in Ollier disease, Maffucci syndrome is distinguished by the presence of hemangiomas and lymphangiomas, benign vascular tumors presenting as reddish-to-blue that are soft on palpation   .
Apart from Ollier disease and Maffucci syndrome, conditions in which multiple enchondromas develop may possess a hereditary component (genochondromatosis, in which normal stature, symmetrical lesions and possibly clavicular thickening are encountered, and metachondromatosis), spinal lesions (spondyloenchondrodysplasia) that might be accompanied by mental retardation (cheirospondyloenchondromatosis) or neonatal dwarfism (dysspondyloenchondromatosis) . It must be pointed out that malignant transformation of enchondromas can occur, particularly in Maffucci syndrome   .
Entire Body System
- Acute Onset of Symptoms
Some patients presented soon after the acute onset of symptoms, and others had a more subtle, protracted course over as many as 2 years. Some tumors were deemed resectable and others not. In only 1 instance was follow-up beyond 1 year reported. [ncbi.nlm.nih.gov]
- Soft Tissue Swelling
Severe bone destruction associated with a large soft-tissue swelling of the proximal and middle phalanges of the little finger was seen in case 1. [ncbi.nlm.nih.gov]
[…] within this region encodes a ligand for PTHR1: mutations in the gene encoding this receptor are associated with some cases of Ollier disease, several skeletal dysplasias including Blomstrand, Eiken, and Jansen and down-regulation of PTHLH expression in brachydactyly [ncbi.nlm.nih.gov]
[…] the father Halal, F; Azouz, EM A mutant PTH/PTHrP type I receptor in enchondromatosis Hopyan, S; Gokgoz, N; Poon, R; Gensure, RC; Yu, C; Cole, WG; Bell, RS; Jüppner, H; Andrulis, IL; Wunder, JS; Alman, BA Deletion and point mutations of PTHLH cause brachydactyly [deepdyve.com]
- Joint Deformity
Exostoses do not result in shortening of affected long bones or produce bowing, joint deformity or subluxation as seen in HME. [kundoc.com]
- Leg Length Inequality
In the lower limbs, a significant problem is leg length inequality. [boneandspine.com]
Signs and symptoms of diseases that comprise enchondromatosis in their pathogenesis may not be easy to detect without a thorough diagnostic workup. Firstly, patients (or their parents) should be asked about the course of symptoms, their progression, and if similar complaints are present in either of the parents (having in mind the autosomal dominant pattern of inheritance for genochondromatosis and metachondromatosis). A meticulous physical examination is perhaps even more important, as a complete body inspection and palpation of the skeleton allows identification of multiple bony masses in a predominantly asymmetric fashion. Imaging studies, however, are the cornerstone in establishing a solid diagnosis. On plain radiography, enchondromas appear as oval or elongated radiolucent homogeneous lesions that possess a well-defined bony margin    . If X-rays reveal cortical erosion, tumor extension into soft tissues, or an irregular border, the malignant transformation should be suspected . More advanced studies, such as magnetic resonance imaging (MRI) and computed tomography (CT) are employed when inconclusive findings are obtained on radiography . Finally, a biopsy with subsequent histopathological examination might be used for confirmation of an enchondroma  .
- Soft Tissue Calcification
The present case demonstrates advanced radiographic features of this disorder associated with unusual soft tissue calcifications and hemangiomas. [ncbi.nlm.nih.gov]
In Maffucci's syndrome the enchondromas occur with multiple cutaneous haemangiomas that appear as soft tissue calcifications or phleboliths on X-ray. [patient.info]
Generalized enchondromatosis associated with haemangiomas, soft-tissue calcifications and hymihypertrophy. British Journal of Radioliology, 59, 69–74. CrossRef Google Scholar Rozeman, L. B., Hogendoorn, P. C., & Bovee, J. V. (2002). [link.springer.com]
We present the case of a patient with generalized enchondromatosis who developed a large enchondroma of the clivus, and we discuss the clinical presentation and potential treatments for this entity. [ncbi.nlm.nih.gov]
Mild lesions may not require any active treatment and should be kept under observation. Where required the treatment would be surgical. [boneandspine.com]
& Prognosis No specific treatment available Patients require lifetime observation Corrective surgery for deformed limbs and length difference possible secondary sarcomatous change Other important information Differential diagnosis of enchondromatosis [tumorsurgery.org]
The genetics of these associations are analyzed; their influence on prognosis for the individual child and for genetic counselling for the family are discussed. [ncbi.nlm.nih.gov]
The ages of onset and diagnosis, and whether surgery is needed, can also affect the prognosis.   Overall, the prognosis is good, with most individuals expected to have a normal lifespan.  Research has shown that patients with widely distributed [rarediseases.info.nih.gov]
The rate of chondrosarcoma in Ollier's disease has been estimated at 30-50%. [ 6 ] Prognosis [ 1 ] The prognosis for Ollier's disease is difficult to assess as there is a paucity of peer-reviewed research and much of it is contradictory. [patient.info]
They should be distinguished and adequately diagnosed, not only to guide therapeutic decisions and genetic counseling, but also with respect to research into their etiology. [ncbi.nlm.nih.gov]
[…] dyschondroplasia Synopsis cartilagenous tumours (bone, trachea) multiple osteochondromas(osteochondromatosis) chondrosarcoma asymmetric tubular bone abnormality ovarian juvenile granulosa cell tumor (precocious pseudopuberty) Types Ollier disease Maffucci disease Etiology [humpath.com]
The etiology of enchondromatosis has been associated with post-zygote state mutations during development. [radiopaedia.org]
Ollier’s disease, also known as multiple enchondromatosis, is regarded as a congenital disease with unknown etiology. This rare disease is characterized by the hamartomatous growth of cartilage cells, producing masses termed chondromas. [spandidos-publications.com]
Updated Molecular and Epidemiologic diagrams added to all new chapters. [books.google.com]
Epidemiology Ollier's disease is very rare. The estimated prevalence of Ollier's disease is 1/100,000. [ 1 ] Maffucci's syndrome is even rarer. [patient.info]
Abstract Bone neoplasms or tumors are of great interest for paleopathological studies due to their close relationship with health and survivorship as well as for their epidemiologic and demographic relevance. [scinapse.io]
The association of lymphangiomas with Ollier disease and Maffucci syndrome (another enchondromatosis) has been described in the literature. 3,4 Epidemiology and Classification The estimated prevalence of Ollier disease is 1 in 100,000. 5–7 The true incidence [healio.com]
The pathophysiology and possible common causes of both disorders is discussed. [ncbi.nlm.nih.gov]
Pathophysiology The lesions are essentially hamartomatous proliferations of cartilage cells within the metaphyses or perversion of enchondral growth and are therefore confined to cylindrical bone. [boneandspine.com]
Further research is required to understand the pathophysiology of this rare disease. [spandidos-publications.com]
The modified Spranger classification system is widely used to address types of enchondromatosis, and the common subtypes are listed in Table 2. 17 Table 2: Classification of Multiple Enchondromatosis Pathophysiology The pathogenesis of enchondromatosis [healio.com]
الصفحة 131 - GUSTILO, RB, and ANDERSON, JT: Prevention of Infection in the Treatment of One Thousand and Twenty-five Open Fractures of Long Bones. Retrospective and Prospective Analyses. J. Bone and Joint Surg., 58-A: 453-458, June 1976. [books.google.com]
The cause of this disease is not known and hence preventive options are not known. Maffiucci’s Syndrome This is a nonhereditary disorder affecting the bones and skins as the result of benign multiple enchondromas. [mybiosource.com]
Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] Ollier disease Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones [icdlist.com]
Prevention Despite acceptance that Ollier's disease carries a risk of malignant change there is little in the literature to quantify the risk and no agreed protocol for screening. [patient.info]
By elucidating the initiating genetic event driving chondrosarcoma development the pathways crucial for tumor growth may be identified and may serve as target for preventive or therapeutic strategies against chondrosarcoma. [sarcomahelp.org]
- Pansuriya TC, Kroon HM, Bovée JV. Enchondromatosis: insights on the different subtypes. Int J Clin Exp Pathol. 2010;3(6):557-569.
- Sunny G, Hoisala VR, Cicilet S, Sadashiva S. Multiple Enchondromatosis: Olliers Disease- A Case Report. J Clin Diagn Res. 2016;10(1):TD01-TD02.
- Silve C, Jüppner H. Ollier disease. Orphanet J Rare Dis. 2006;1:37.
- Kumar A, Jain VK, Bharadwaj M, Arya RK. Ollier Disease: Pathogenesis, Diagnosis, and Management. Orthopedics. 2015;38(6):e497-506.
- Khoo RN, Peh WC, Guglielmi G. Clinics in diagnostic imaging (124). Multiple enchondromatosis in Ollier disease. Singapore Med J. 2008;49(10):841-845.
- Flach HZ, Ginai AZ, Oosterhuis JW. Maffucci syndrome: radiologic and pathologic findings. Radiographics 2001;21:1311-1316.