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Enchondromatosis

Ollier Disease

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.


Presentation

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 [1] [2] [3] [4] [5]. 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 [1] [3] [4] [6]:

  • 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 [1] [3]. 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 [1] [3]. 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 [1] [3] [4]. Pathological fractures, although less common, is an important symptom as well [3].
  • 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 [1] [5] [6].

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) [1]. It must be pointed out that malignant transformation of enchondromas can occur, particularly in Maffucci syndrome [1] [3] [5].

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]
Dyspnea
  • Hemangiomas at the larynx had caused dyspnea and those in the oral cavity led to recurrent bleeding, requiring several surgical removals. These multiple and debilitating hemangiomas have never been previously reported in patients with MC-HGA.[ncbi.nlm.nih.gov]
Abdominal Mass
  • We report a case of a 13-year-old girl who was noted to have a large abdominal mass at the time of excision of a symptomatic enchondroma of the right femur.[ncbi.nlm.nih.gov]
Coxa Vara
  • Follow-up radiographic examinations documented progressive coxa vara and hypoplasia/dysplasia of the left ulna. At puberty, the short tubular bones appeared normal. There was marked regression of the flat bone, rib, and spinal lesions.[ncbi.nlm.nih.gov]
  • PMID 6602353 Distinctive enchondromatosis with spine abnormality, regressive lesions, short stature, and coxa vara: importance of long-term follow-up. Kozlowski KS, Masel J. Am J Med Genet. 2002 Jan 22;107(3):227-32.[atlasgeneticsoncology.org]
  • Distinctive enchondromatosis with spine abnormality, regressive lesions, short stature, and coxa vara: Importance of long-term follow-up. American Journal of Medical Genetics, 107 , 227–232. PubMed CrossRef Google Scholar Langenskiöld, A. (1967).[link.springer.com]
  • Distinctive enchondromatosis with spine abnormality, regressive lesions, short stature, and coxa vara: importance of long-term follow-up. Am J Med Genet. 2002; 107 :227–32. [ PubMed ] [ Google Scholar ] 67. Kozlowski K, Jarrett J.[ncbi.nlm.nih.gov]
Normal Stature
  • 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,[symptoma.com]
  • No spinal involvement Non-hereditary Ollier disease Mafucci syndrome Autosomal dominant Metachondromatosis Enchondromas with osteochondroma-like lesions Genochondromatosis Symmetric with normal stature Type 1 clavicular thickening Type 2 normal clavicle[boneandspine.com]
Leg Length Inequality
Swelling of the Dorsum of a Hand
  • Nakamura K, Matsushita T, Haga N, Manabe N, Ishida T, Kurokawa T (1999) Swelling of the dorsum of the hand and/or foot can be a first sign of Maffucci syndrome. Arch Orthop Trauma Surg 119:470–473 CrossRef PubMed Google Scholar 2.[doi.org]
Bilateral Proptosis
  • We treated a 34-year-old man with Maffucci's syndrome, bilateral proptosis secondary to multiple intraorbital hemangiomas, corneal exposure secondary to a left facial nerve palsy, and multiple intra-abdominal tumors.[ncbi.nlm.nih.gov]
Diplopia
  • A 21-year-old female who has diagnosed as Ollier's disease at the age of 9-years was admitted to the hospital with complaint of diplopia and progressive right upper and lower limb weakness.[ncbi.nlm.nih.gov]
Limb Weakness
  • A 21-year-old female who has diagnosed as Ollier's disease at the age of 9-years was admitted to the hospital with complaint of diplopia and progressive right upper and lower limb weakness.[ncbi.nlm.nih.gov]
Seizure
  • A patient with the diagnosis of enchondromatosis (Ollier's disease) presented with seizures. CT examination showed an avascular right frontal lobe lesion. Surgery revealed a histologically verified grade II astrocytoma.[ncbi.nlm.nih.gov]

Workup

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 [1] [2] [3] [4]. If X-rays reveal cortical erosion, tumor extension into soft tissues, or an irregular border, the malignant transformation should be suspected [3]. More advanced studies, such as magnetic resonance imaging (MRI) and computed tomography (CT) are employed when inconclusive findings are obtained on radiography [5]. Finally, a biopsy with subsequent histopathological examination might be used for confirmation of an enchondroma [1] [3].

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]

Treatment

  • We discuss the diagnostic findings, genetic causes, treatment and prognosis of this rare condition of which less than thirty cases have previously been reported.[ncbi.nlm.nih.gov]
  • The clinical treatment and results for three hands in two patients with multiple enchondromatosis (Ollier's disease) are presented.[ncbi.nlm.nih.gov]
  • 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]
  • They then examine the co-occurrence of brain tumors in conjunction with a dyschondroplasia syndrome in children and adolescents to assess the presentation, treatment offered, and disease course of similar cases.[ncbi.nlm.nih.gov]
  • However, sometimes surgery causes more enchondromas to develop, so doctors may choose to perform surgery only if absolutely necessary. [5] Other treatment options include physical therapy. [2] The goals of treatment are to relieve any pain caused by the[rarediseases.info.nih.gov]

Prognosis

  • 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]
  • Clinical features, tumor factors, criterion of diagnosis and prognosis, surgical strategy and follow-up evaluation are analysed, as well as a review of the literature.[ncbi.nlm.nih.gov]
  • We discuss the diagnostic findings, genetic causes, treatment and prognosis of this rare condition of which less than thirty cases have previously been reported.[ncbi.nlm.nih.gov]
  • The ages of onset and diagnosis, and whether surgery is needed, can also affect the prognosis. [5] [4] Overall, the prognosis is good, with most individuals expected to have a normal lifespan. [1] 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]

Etiology

  • 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]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]

References

Article

  1. Pansuriya TC, Kroon HM, Bovée JV. Enchondromatosis: insights on the different subtypes. Int J Clin Exp Pathol. 2010;3(6):557-569.
  2. Sunny G, Hoisala VR, Cicilet S, Sadashiva S. Multiple Enchondromatosis: Olliers Disease- A Case Report. J Clin Diagn Res. 2016;10(1):TD01-TD02.
  3. Silve C, Jüppner H. Ollier disease. Orphanet J Rare Dis. 2006;1:37.
  4. Kumar A, Jain VK, Bharadwaj M, Arya RK. Ollier Disease: Pathogenesis, Diagnosis, and Management. Orthopedics. 2015;38(6):e497-506.
  5. Khoo RN, Peh WC, Guglielmi G. Clinics in diagnostic imaging (124). Multiple enchondromatosis in Ollier disease. Singapore Med J. 2008;49(10):841-845.
  6. Flach HZ, Ginai AZ, Oosterhuis JW. Maffucci syndrome: radiologic and pathologic findings. Radiographics 2001;21:1311-1316.

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Last updated: 2019-07-11 21:46