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]
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