41 Enchondromatosis

Osteochondromatosis, dyschondroplasia, Radiographic Features Ollier disease, Maffucci syndrome included Generalized Bone Defects • Multiple, asymmetrical radiolucent defects (en- Multiple enchondromas, asymmetrical tubular bone chondromas) of variable shape (oval, linear, py- shortening, vascular malformations and phlebolithiasis ramidal) in the metaphyses of tubular bones and (Maffucci syndrome) in flat bones; most frequently involved sites: long bones, tubular bones in hands and feet, pelvis and Frequency: Undetermined, but rare. ribs; rare locations: skull base, carpal and tarsal bones, spine Genetics • Soft tissue phleboliths Uncertain, probably autosomal dominant (OMIM • Soft tissue calcifications within the hemangiomas 166000) with reduced penetrance; Ollier disease is (Maffucci syndrome) type I and Maffucci type II with associated heman- • Malignant degeneration of bone lesions giomas; neither condition seems to be determined in Extremities a simple mendelian manner; most cases are sporadic; • Anarchic shortening and deformity of tubular A gene locus mapped to chromosome 3p22-p21.1; bones mutations found in the PTH/PTHR type I receptor; • Limb-length discrepancy genetically heterogeneous. • Limb bowing • Pathologic fractures Clinical Features Spine • Usually manifests between 2nd and 10th years of • Kyphoscoliosis life • Asymmetry in length and shape of involved limbs • Enlargement of metaphyseal regions Bibliography • Palpable bone mass on hands and feet ∑ Malignant transformation (10% develop chon- Anderson IF. Maffucci’s syndrome: report of a case with a drosarcomas) review of the literature. S Afr Med J 1965; 39: 1066–70 • Halal F, Aronz EM. Generalized enchondromatosis in a boy Pathologic fractures with only platyspondyly in the father. Am J Med Genet • Hemangiomas (Maffucci type) 1991; 38: 588–92 • Ovarian tumor with precocious pseudopuberty Hopyan S, Gokgoz N, Poon R, Gensure RC,Yu C,Cole WG, Bell RS,Juppner H,Andrulis IL,Wunder JS,Alman BA.A mutant Differential Diagnosis PTH/PTHrP type I receptor in enchondromatosis. Nature • Genet 2002; 30: 306–10 Generalized enchondromatosis Kaplan RP, Wang JT, Amron DM, Kaplan L. Maffucci’s syn- • Metachondromatosis, type III drome: two case reports with a literature review. J Am Acad • Dysspondyloenchondromatosis Dermatol 1994; 29: 894–9 • Genochondromatosis types I and II Mota CR, Marques L, Silva E, Fonseca M, Pinho M, Torcato M, • Spondyloenchondrodysplasia, type IV Barbot J, Medina M, Maroteaux P.Symmetrical enchondro- • matosis of the hands and feet in two sisters. J Pediatr Upington disease Orthop B 1997; 6: 15–9 Phelan EM, Carty HM, Kalos S. Generalised enchondromatosis associated with haemangiomas, soft-tissue calcifications and hemihypertrophy. Br J Radiol 1986; 59: 69–74 Spranger JW, Kemperdieck H, Backowski H, Opitz RJ. Two peculiar types of enchondromatosis. Pediatr Radiol 1978; 7: 215–9 Vaz RM,Turner C. Ollier disease (enchondromatosis) associated with ovarian juvenile granulosa cell tumor and precocious pseudopuberty. J Pediatr 1986; 108: 945–7 Enchondromatosis 697

Fig. 41.1. Patient 1, age 2 years. There are small radiolucent defects in the left femoral neck, and deﬁcient modeling of both femurs

E 698 Enchondromatosis

Fig. 41.2 a,b. Patient 1, 2 years. Multiple radiolucent tumefactions within the shaft of the tubular bones, predominant location be- ing submetaphyseal regions. Note thinning or even disappearance of cortex overlying enchondromas. Several tubular bones in both hands and feet are irregularly shortened