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Enchondromatosis (Maffucci Syndrome; Ollier Syndrome)

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Enchondromatosis (Maffucci Syndrome; Ollier Syndrome) Enchondromatosis (Maffucci Syndrome; Ollier Syndrome) Enchondromas are benign cartilaginous growth in the i. Bony or soft tissue abnormalities at birth in 27% intramedullary region of the bones. When two or more bones of cases are affected with enchondromas, the condition is called mul- ii. Average age of onset: 4 years (ranging from birth tiple enchondromatosis. Maffucci first described the syn- to 30 years of age) drome of multiple enchondromas and subcutaneous heman- b. Skeletal lesions: multiple enchondromas giomas in 1881, eighteen years before Ollier described multiple i. Can occur anywhere in the body enchondromatosis. ii. Most commonly in the hands, followed by tibia/fibula, foot, femur, humerus, radius/ulna, ribs, GENETICS/BASIC DEFECTS pelvis, scapula, and head 1. Inheritance iii. Common long bone involvement a. Maffucci syndrome iv. Kyphoscoliosis caused by direct involvement of i. Not hereditary the spine ii. A congenital disorder v. Progressive skeletal deformities b. Ollier syndrome a) Enlarged fingers i. Not hereditary b) Bowed legs ii. A congenital disorder c) Asymmetric limb shortening c. Obvious inheritance of enchondromatosis: unusual d) Pathological fractures d. No candidate loci identified vi. High incidence (23%) of malignancies, especially e. Ollier syndrome and Maffucci syndrome: possibly a chondrosarcomas (15%) which lead to greater spectrum of the same disease process. The latter condi- tissue destruction tion is complicated by vascular anomalies and heman- vii. Vascular malignancies may occur occasionally giomas c. Vascular lesions: subcutaneous and sometimes visceral 2. Basic defect and pathogenesis hemangiomas a. Enchondromas believed to be a part of a generalized i. Occur anywhere in the body mesodermal dysplasia ii. Most commonly in the hands, followed by foot, b. Appearance of enchondromata close to the epiphysis arm, leg, trunk, and head/neck can severely affect the progressive development of a iii. Hemangiomas also reported in the leptomeninges, bone, resulting in distortion in the shape and length of eyes, pharynx, tongue, trachea, and intestines the bone iv. Appear as blue subcutaneous nodules that some- c. Osteochondromatosis possibly results from abnormal times can be emptied by pressure or by elevating regulation of proliferation and terminal differentia- the lesions above the level of the heart tion of chondrocytes in the adjoining growth plate, v. Unilateral or bilateral lesions since enchondromas are usually present in close prox- vi. Phlebitis often results from thrombi forming imity to, or in continuity with, growth-plate cartilage within the hemangiomatous vessels i. Parathyroid hormone related protein (PTHRP) vii. Characteristic calcified thrombi delays the hypertrophic differentiation of prolif- viii. Histologic types of hemangiomas erating chondrocytes a) Venous: most often ii. Indian hedgehog (IHH) promotes chondrocytes b) Capillary proliferation c) Mixed venous/capillary type d. Identification of a mutant PTH/PTHRP type I recep- ix. Lymphangioma, a rare aspect of the mesodermal tor (PTHR1) in human enchondromatosis that signals dysplasia in Maffucci syndrome abnormally in vitro and causes enchondroma-like x. Spindle cell hamangiomatosis as a component of lesions in transgenic mice Maffucci syndrome i. The mutant receptor constitutively activates d. Neoplastic changes Hedgehog signaling i. Overall malignancy rate: 37% ii. Excessive Hedgehog signaling is sufficient to ii. Osteosarcoma (30%): average age of onset is 40 cause formation of enchondroma-like lesions years (ranging from 13 to 69 years of age) iii. Astrocytoma/brain tumor CLINICAL FEATURES iv. Other neoplasms 1. Maffucci syndrome e. Normal intelligence a. Age of onset f. Short stature 355 356 ENCHONDROMATOSIS g. Minimally affected individuals e) Short stature i. No major functional impairment f) Radiographic features intermediate between ii. Unrestricted employment exostosis and enchondromatosis iii. Moderate cosmetic deformity only ii. Spondyloenchondromatosis: characterized by iv. Reconstructive or corrective surgery, limited to platyspondyly one or two major procedures with acceptable iii. Spondyloenchondromatosis with basal ganglia final results calcification v. Ablative surgery, restricted to amputation of a iv. Dysspondyloenchondromatosis: characterized finger or a toe by malsegmentation of the spine h. Moderately affected individuals v. Genochondromatosis I i. Significant functional impairment a) Enchondromatosis with celery type of meta- ii. Self supporting and able to work most of the time physeal lesions iii. Ambulatory b) Characteristic thickening of the clavicles iv. Reconstructive surgery or amputation and pros- c) Regressive without any complications thesis helpful vi. Genochondromatosis II v. Ablative surgery restricted to potentially func- a) Enchondromatosis with celery type of tional (transfemoral or transhumeral) amputation metaphyseal lesions i. Severely affected individuals b) Moderately severe hand involvement with i. Severe functional impairment long dense streaks and more irregular radi- ii. Inability to work olucent channels iii. Chronic invalidism c) Regress without any complications iv. No surgical rehabilitation possible b. Dysplasia epiphysealis hemimelica (Trevor disease) v. Forequarter or hindquarter amputation required i. Abnormal cartilage growth and maturation 2. Ollier syndrome ii. Exostosis of epiphyseal growth centers and their a. Non-hereditary cartilage dysplasia of bone equivalents that grow solely by enchondral i. Consisting of multiple, asymmetrically distrib- ossification with no membranous ossification in uted, intraosseous cartilaginous foci and subpe- the lesions riosteal deposition of cartilage, either exclusively a) Apophyses or predominantly involving one side of the body b) Carpal bones ii. Multiple enchondromas as described in Maffucci c) Tarsal bones syndrome d) Sesamoids including the patella iii. Enchondromata in infancy and early childhood a) Quite innocuous b) Appearing as small radiolucent defects DIAGNOSTIC INVESTIGATIONS iv. Characteristic lesions develop as the skeletal 1. Radiography growth progresses: a. Enchondromas a) Localized asymmetric impairment of growth i. Lesions usually arise within the medullary cavity, b) Asymmetric shortening and bowing of replacing the normal cancellous bone with the extremity parts (especially forearm and/or abnormal cartilage lower leg) ii. Lytic lesions initially contain calcifications in a v. No increase in size of the lesions after the cessa- punctate pattern tion of the normal growth iii. Advanced lesions assume a ground glass b. Taut-elastic skin over hyaline cartilage distensions appearance c. Marked asymmetry of swellings with local growth iv. Predilection for the metaphysis or diaphysis deficiency v. Bone often expands but with intact cortex d. Firm, indolent, rounded distensions continuous with vi. Often with a scalloped border bone on one or more fingers or toes vii. Pathologic fractures not uncommon e. Kyphoscoliosis viii. Multiple asymmetric enchondromas of long f. Joint impairment and flat bones (characteristic ovoid or pyra- g. Spontaneous fractures in affected area mid-shaped, linear translucent defects in meta- h. Rare malignant (chondrosarcoma) transformation physes) 3. Differential diagnosis b. Massive metaphyseal enlargement in any bones, a. Other types of enchondromatosis particularly metacarpals and fingers i. Metachondromatosis c. Enchondromatosis with destruction and calcification a) An autosomal dominant disorder d. Streaks of unossified cartilage in the metaphyses, b) Development of chondromas and osteo- sometimes extending into the diaphyses chondromas involving the bones of the e. Madelung deformity hands and feet f. Shortening of extremities c) Painless swelling of the hands and feet g. Spinal deformity d) Normal intelligence h. Occasional malignant degeneration ENCHONDROMATOSIS 357 2. Bone scan Goto T, Motoi T, Komiya K, et al.: Chondrosarcoma of the hand secondary to a. Exhibiting intense and increased uptake multiple enchondromatosis; report of two cases. Arch Orthop Trauma Surg 123:42–47, 2003. b. To locate polyostotic lesions Gutman E, McCutcheon S, Garber P: Enchondromatosis with hemangiomas 3. CT scan (Maffucci’s syndrome). South Med J 71:466–467, 1978. a. To delineate the extent of bone involvement Johnson TE, Nasr AM, Nalbandian RM, et al.: Enchondromatosis and heman- b. A good diagnostic tool to demonstrate the high atten- gioma (Maffucci’s syndrome) with orbital involvement. Am J Ophthalmol uation coefficient (classic in bone affected by fibrous 110:153–159, 1990. Kaibara N, et al.: Generalized enchondromatosis with unusual complications of dysplasia) soft tissue calcifications and hemangiomas. Follow-up for over a twelve- 4. MRI year period. Skeletal Radiol 8:43–46, 1982. a. To delineate the extent of bone involvement Kaplan RP, et al.: Maffucci’s syndrome: two case reports with a literature b. Enchondromas review. J Am Acad Dermatol 29:894–899, 1994. i. Low signal intensity on T1-weighted images Kaufman HJ: Enchondromatosis. Semin Roentgen 8:176–177, 1973. Kozlowski K, Jarret J: Genochondromatosis II. Pediatr Radiol 22:593–595, 1992. ii. High signal intensity on T2-weighted images Kozlowski K, Brostrom K, Kennedy J, et al.: Dysspondyloenchondromatosis in iii. High signal intensity on gradient recalled echo the newborn. Pediatr Radiol 24:311–315, 1994. images similar to articular cartilage Kozlowski KS, Masel J: Distinctive enchondromatosis with spine abnormality, 5. Histology
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