41 Enchondromatosis
Osteochondromatosis, dyschondroplasia, Ollier disease, Maffucci syndrome included
Multiple enchondromas, asymmetrical tubular bone shortening, vascular malformations and phlebolithiasis (Maffucci syndrome)
Frequency: Undetermined, but rare.
Genetics
Uncertain, probably autosomal dominant (OMIM 166000) with reduced penetrance; Ollier disease is type I and Maffucci type II with associated heman- giomas; neither condition seems to be determined in a simple mendelian manner; most cases are sporadic;
A gene locus mapped to chromosome 3p22-p21.1;
mutations found in the PTH/PTHR type I receptor;
genetically heterogeneous.
Clinical Features
• Usually manifests between 2nd and 10th years of life
• Asymmetry in length and shape of involved limbs
• Enlargement of metaphyseal regions
• Palpable bone mass on hands and feet
∑ Malignant transformation (10% develop chon- drosarcomas)
• Pathologic fractures
• Hemangiomas (Maffucci type)
• Ovarian tumor with precocious pseudopuberty Differential Diagnosis
• Generalized enchondromatosis
• Metachondromatosis, type III
• Dysspondyloenchondromatosis
• Genochondromatosis types I and II
• Spondyloenchondrodysplasia, type IV
• Upington disease
Radiographic Features Generalized Bone Defects
• Multiple, asymmetrical radiolucent defects (en- chondromas) of variable shape (oval, linear, py- ramidal) in the metaphyses of tubular bones and in flat bones; most frequently involved sites: long bones, tubular bones in hands and feet, pelvis and ribs; rare locations: skull base, carpal and tarsal bones, spine
• Soft tissue phleboliths
• Soft tissue calcifications within the hemangiomas (Maffucci syndrome)
• Malignant degeneration of bone lesions Extremities
• Anarchic shortening and deformity of tubular bones
• Limb-length discrepancy
• Limb bowing
• Pathologic fractures Spine
• Kyphoscoliosis
Bibliography
Anderson IF. Maffucci’s syndrome: report of a case with a review of the literature. S Afr Med J 1965; 39: 1066–70 Halal F, Aronz EM. Generalized enchondromatosis in a boy
with only platyspondyly in the father. Am J Med Genet 1991; 38: 588–92
Hopyan S, Gokgoz N, Poon R, Gensure RC, Yu C, Cole WG, Bell RS, Juppner H,Andrulis IL,Wunder JS,Alman BA.A mutant PTH/PTHrP type I receptor in enchondromatosis. Nature Genet 2002; 30: 306–10
Kaplan RP, Wang JT, Amron DM, Kaplan L. Maffucci’s syn- drome: two case reports with a literature review. J Am Acad Dermatol 1994; 29: 894–9
Mota CR, Marques L, Silva E, Fonseca M, Pinho M, Torcato M, Barbot J, Medina M, Maroteaux P. Symmetrical enchondro- matosis of the hands and feet in two sisters. J Pediatr 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) associat- ed with ovarian juvenile granulosa cell tumor and preco- cious pseudopuberty. J Pediatr 1986; 108: 945–7
Enchondromatosis 696
Enchondromatosis 697
E
Fig. 41.1. Patient 1, age 2 years.
There are small radiolucent de- fects in the left femoral neck, and deficient modeling of both femurs
Enchondromatosis 698
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
a
b
