Enchondromatosis


Introduction

Rare, heterogeneous skeletal disorder in which patients have multiple enchondromas.

  • Enchondromas: Common benign metaphyseal cartilage tumors
    • M/C tumour of hands & feet

Classification

Ollier disease (M/C subtype)

Also known as dyschondroplasia, multiple cartilaginous enchondromatosis, enchondromatosis Spranger type I is defined by the presence of multiple enchondromas with asymmetric distribution
Ollier disease. (A) 4-year-old female patient with Ollier disease. Multiple enchondromas, manifesting as central end eccentric osteolytic lesions and deformities in the metacarpals and phalanges of the fourth and fifth ray of the right hand. (B) Same patient as in Fig. 2A 13 years later. The enchondromas have increased in size and some are more evidently visible compared to the previous study. This has resulted in deformity of the fourth finger. (C) Histology of enchondroma of long bone from Ollier patient showing moderate cellularity and abundance of hyaline cartilage matrix (200 times magnification). (D) Histology of chondrosarcoma grade II of the long bone from Ollier patient showing increased cellularity and atypical chondrocytes (200 times magnification). (E) Technetium-99m bone scintigraphy, anterior projection, demonstrates shortening of the right lower limb. Varus deformity of the femur and valgus deformity of the tibia. Multiple areas of focally increased uptake of the tracer in femur and tibia. (F-G) Anteroposterior radiograph of the right knee and lower leg of same patient as 2E. Deformity of both the distal femur and the tibia and fibula. Structural changes in the marrow cavity and cortical bone of femur and tibia consisting of osteolysis and osteo-sclerosis. Specifically in the proximal tibia areas with mineralization in the sense of calcifications can be appreciated (arrow). The appearance is consistent with multiple chondromatous tumors. (H) Coronal fat-suppressed T1-weighted magnetic resonance image after intravenous contrast administration of the femur. Varus deformation of the femur. Multiple, partially lobulated, areas with increased signal intensity due to enhancement of the chondromatous lesions. Large lesion in the distal diaphysis of the femur, of which histology showed a chondrosarcoma (arrow). The enhancement demonstrates rings and arcs (also known as septal or nodular enhancement) consistent with the chondromatous nature of the lesions. | Pansuriya, T.C., Kroon, H. M., & Bovée, J. V. (2010). Enchondromatosis: insights on the different subtypes. International journal of clinical and experimental pathology, 3(6), 557–569.

Maffucci syndrome:

Also known as dyschondro-dysplasia with haemangiomas, enchondromatosis with multiple cavernous haemangiomas, Kast syndrome, haemangiomatosis chondrodystrophica, enchondromatosis Spranger type II is a non-hereditary enchondromatosis and characterized by the presence of multiple enchondromas combined with multiple haemangiomas of soft tissue or, less commonly, lymphangiomas
Maffucci Syndrome: (A) Hand of a patient with Maffucci syndrome showing deformities due to multiple enchondromas and a superficial haemangioma. (B) Radiograph of a patient with Maffucci syndrome. Multiple enchondromas with and without soft tissue extension in the second to fifth digit and the fifth metacarpal bone. In addition phleboliths in the soft tissue at the basis of the second and fourth finger (arrows) indicating haemangiomas. (C) Histology of enchondroma and (D) Haemangioma (400 times magnification). | Pansuriya, T.C., Kroon, H. M., & Bovée, J. V. (2010). Enchondromatosis: insights on the different subtypes. International journal of clinical and experimental pathology, 3(6), 557–569.

Other subtypes (rare):

  • Metachondromatosis
  • Genochondromatosis
  • Spondyloenchondrodysplasia
  • Dysspondyloenchondromatosis
  • Cheirospondyloenchondromatosis
Metachondromatosis. (A) Radiograph of the pelvis with an enchondroma in the right proximal femur (arrow) adjacent to the apophysis of the greater trochanter; (B) radiograph of both hands showing multiple osteochondromas pointing towards the epiphyses. Enchondroma in the proximal phalanx of the left third digit (arrow); (C, E) micrographs of osteochondroma-like lesions (D) magnification of C. These lesions are histologically indistinguishable from conventional osteochondroma recapitulating the normal growth plate architecture | Bovee JVMG, Hameetman L, Kroon HM, Aigner T, Hogendoorn PCW. EXT-related pathways are not involved in the pathogenesis of dysplasia epiphysealis hemimelica and metachondromatosis. J Pathol. 2006;209:411–9.
Enchondromatosis sub-types. Classification diagram for patients with multiple enchondromas based on spinal involvement and genetic transmission. | Pansuriya, T. C., Kroon, H. M., & Bovée, J. V. (2010). Enchondromatosis: insights on the different subtypes. International journal of clinical and experimental pathology, 3(6), 557–569.

Clinical features

Ollier disease:

Clinical manifestations in Ollier disease often appear in the first decade of life and usually start with the appearance of palpable bony masses on a finger or a toe, an asymetric shortening of an extremity with limping, osseous deformities associated or not with pathologic fractures.
  • Short tubular bone of hand (M/C site)
  • Others: Femur, tibia, fibula, humerus, radius, and ulna
Clinical photographs of both hands showing multiple swellings (A) and shortness of right lower limb (B). | Dhemesh, Y., Tawekji, T., Abdul-Baki, M. N., Abi-Zamr, G., & Ali, S. (2020). Ollier disease: the first report in Syria. Oxford medical case reports, 2020(1), omz145. https://doi.org/10.1093/omcr/omz145

Skeletal abnormalities:

Generally first observed with angular deformity or growth discrepancy during childhood which peak before 10 years of age.
  • Bending, shortening, pathological fracture, and asymmetric deformity

Complications during adulthood:

  • Arthritis
  • Deformity
  • Malignant transformation: Chondrosarcoma

Diagnosis

Diagnosis depends on clinical, radiographic and pathologic findings

Radiogrpahy:

  • Multiple, radiolucent, homogenous lesions with an oval or elongated shape and well defined slightly thickened bony margin. The lesions and long bone axis run parallel
  • Frequently assembled as clusters, thus resulting in metaphyseal widening
  • Notch-like image: Enchondromas localized at the bone border
Multiple radiolucent, well-defined, lytic lesions are seen in metacarpal and phalanges bones (A), distal end of right leg and right femur (B and C) and proximal end of right femur (D), in keeping with multiple enchondromas. | Dhemesh, Y., Tawekji, T., Abdul-Baki, M. N., Abi-Zamr, G., & Ali, S. (2020). Ollier disease: the first report in Syria. Oxford medical case reports, 2020(1), omz145. https://doi.org/10.1093/omcr/omz145

Magnetic resonance (MR) studies:

  • Lobulated lesions with intermediate signal intensity on T1-weighted images
  • Predominantly high signal intensity on T2-weighted sequences

Bone biopsy:

  • Low cellularity with an abundant hyaline cartilage matrix sometimes with extensive calcifications
Histopathology of enchondroma with H&E stain (magnification ×100, A, B) showing lobulated mature hyaline cartilage (magnification ×400, C, D) showing double-core cells with a slight cytological atypia. | Silve, C., & Jüppner, H. (2006). Ollier disease. Orphanet journal of rare diseases, 1, 37. https://doi.org/10.1186/1750-1172-1-37

Management

There is no definitive medical treatment.

Surgical management:

Indicated in case of complications (pathological fractures, growth defect, malignant transformation).
  • Intralesional curettage + allogeneic bone graft

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