Multiple enchondromatosis: a case report

Multiple enchondromatosis: a case report

236 Letters to the Editor the forces applied to the plantar fascia. Similarly, pes planus with valgus of the hindfoot (20 patients) stretches the pl...

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Letters to the Editor

the forces applied to the plantar fascia. Similarly, pes planus with valgus of the hindfoot (20 patients) stretches the plantar fascia at its attachment to the calcaneus [2, 3]. Overweight promotes or exacerbates heel pain, particularly in patients with abnormal foot alignment. Eight percent of our patients had a BMI greater than 25. Jobs requiring prolonged standing are known to increase the risk of heel pain [8, 9]. We noted that all the patients who wore shoes without counters, particularly the traditional flat Moroccan slippers, had pain at the underside of the heel. Flat footwear may promote collapse of the medial arch, thereby stretching the plantar fascia at its attachment to the calcaneus and causing pain at the underside of the heel. Radiographs readily show the bone lesions responsible for diffuse heel pain and are useful for ruling out trauma-related calcaneal fractures. The lateral radiograph was normal in 40% of our patients. A mechanical spur at the inferior aspect of the calcaneus denotes increased stress on the plantar fascia at this site: the spur is not the cause of the heel pain but merely a consequence of the tissue lesions [3]. REFERENCES 1 Wending D, Kremer P. Les talalgies. JIM 1994 ; 322 : 23-5. 2 Guaydier Souquières G. Talalgies plantaires d’origine mécanique. In: Bouysset M, Ed. Le pied en rhumatologie. Paris: Springer; 1998. p. 275-83. 3 Claustre J. Les talalgies. Rev Prat 1985 ; 35 : 3071-8. 4 Amor B, Dougados M, Mijiyawa M. Critères diagnostiques des spondylarthropathies. Rev Rhum Mal Ostéoartic 1990 ; 57 : 85-9. 5 Gerster JC. Les talalgies en pratique médicale courante. Schweiz Rundschau Med 1977 ; 66 : 1604-9. 6 Gerster JC, Saudan Y, Fallet GH. Talalgia. A review of 30 severe cases. J Rheumatol 1978 ; 5 : 210-6. 7 Gibbon WW, Cassar-Pullicino. Heel pain. Ann Rheum Dis 1994 ; 53 : 344-8. 8 Claustre J. Le pied douloureux. Prat Med 1984 ; 3 : 11-32. 9 Lelièvre J. Talalgies. In: Lelièvre J, Lelièvre JF, Eds. Pathologie du pied. Paris: Masson; année. p. 561-71. S1297319X02003809/COR Joint Bone Spine 2002 ; 69 : 235–6

Multiple enchondromatosis: a case report Karima Benbouazza, Selma El Hassani, Hasnae Hassikou, Najat Guedira, Najia Hajjaj-Hassouni Rheumatology department B, hôpital El Ayachi, CHU Avicenne, Rabat-Salé, Morocco

benign bone tumors / enchondromatosis / Ollier’s disease

Multiple enchondromatosis is a rare disease characterized by multiple skeletal enchondromas. We report a case in a 40-year-old woman admitted in 1998 for a 10-year history of generalized bone pain. Her height was 154 cm and she had limb deformities with increased local warmth. Serum and urinary levels of calcium and phosphate were normal. Plain radiographs disclosed multiple, large defects expanding the cortex of the epiphyses, metaphyses, and diaphyses. The defects were located in the tubular bones of the limbs and hands and contained microcalcifications. A technetium 99m bone scan showed foci of hyperactivity matching the radiographic defects. Histology was typical for enchondromatosis. Symptomatic treatment was given. At last follow-up 3 years later, the clinical and radiographic abnormalities were unchanged. Unusual features in this patient include the nearly symmetric distribution of the lesions to all tubular limb and hand bones and the extension of the defects to the epiphysis, metaphysis, and diaphysis of each affected bone. Lifelong monitoring is imperative in patients with multiple enchondromatosis given the risk of malignant bone lesion transformation and of extraskeletal cancer. To date, only palliative treatment is available. CASE REPORT This 40-year-old woman was admitted to our rheumatology department in December 1998 for a 10-year history of generalized bone pain in the hands, forearms, legs, and feet. She had three children, all delivered by cesarean section because of a tight pelvis. The bone pain was mechanical, moderate, and partly alleviated by analgesics and nonsteroidal anti-inflammatory drugs. There were no constitutional symptoms. Physical findings included short stature (152 cm), moderate pain upon pressure on the bones, deformities of the limbs with a hard swelling expanding the diameter of the lower third of each forearm and hard painful swellings

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Figure 1. Radiographs of the hands (anteroposterior view) showing radiolucent images speckled with microcalcifications and predominating in the first, second, and third rays of the left hand.

in the first, second, and third metacarpophalangeal spaces of the left hand. The two upper limbs were of the same length, but the right lower limb was 1 cm longer than the left. The right knee and entire right leg were swollen and warm. Range of motion was normal at the spine and peripheral joints. No angiomas were visible on the skin. Findings were normal from the erythrocyte sedimentation rate, absolute and differential blood cell counts, serum protein electrophoresis, and serum and urinary levels of calcium and phosphate. Plain radiographs (figures 1-3) disclosed large defects expanding the cortex of the forearm bones, proximal humeri, leg bones, right hand, and distal third of the right femur. The defects involved the epiphysis, metaphysis, and diaphysis of each bone, widening the diaphysis and thinning the cortex. They had a speckled appearance denoting the presence of microcalcifications. A technetium 99m bone scan showed diffuse hyperactivity of the four limbs matching the radiolucent defects. The increase in uptake was particularly marked at the right lower limb. The spine, skull, and pelvis were normal. An iliac crest biopsy specimen was histologically normal. However, a biopsy from the right tibia showed the typical pattern for enchondromatosis consisting of hyaline cartilage nodules containing well-differentiated chondrocytes with no cellular atypias. No specific treatment is available for multiple enchondromatosis. Our patient was given analgesics and non-

Figure 2. Radiograph of the forearms (anteroposterior view): radiolucent images in the epiphysis, metaphysis, and diaphysis of the right ulna and left radius. These images are speckled with microcalcifications, cause expansion and thinning of the cortices, and are sharply demarcated from the surrounding healthy bone.

steroidal anti-inflammatory drugs, to some benefit. Three years later, clinical, radiological, and scintigraphic findings were unchanged. DISCUSSION Enchondroma is a benign tumor composed of mature hyaline cartilage [1]. Multiple enchondromatosis is an exceedingly rare disease in which enchondromas arise within bones as a result of alterations in enchondral ossification during embryonic development [1, 2]. The condition is not hereditary, although a tiny number of familial cases have been reported [3, 4]. The most common sites of involvement, in order of decreasing frequency, are the hands, the tubular bones of the feet, the femur, the legs, the pelvis, the humerus, and the forearms [1, 2, 5]. The diagnosis is sometimes made at birth or in earlier childhood upon evaluation of deformities and/or limb length discrepancy [6, 7]. In the long bones, enchondromas arise in the metaphysis and drop down like stalactites into the diaphysis, where


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Figure 3. Radiograph of the legs: radiolucent images containing microcalcifications and involving the entire right tibia and the epiphyseal and metaphyseal areas of both fibulas. Note the expansion and thinning of the cortices.

they are very sharply defined by a thin rim of sclerosis [2, 6, 7]. In severe forms, the lesion also involves the epiphyses. Our patient had diffuse and nearly symmetric lesions with marked predominance of the radiological abnormalities in the epiphyseal and metaphyseal areas. It has been suggested that epiphyseal-metaphyseal enchondromatosis may be a separate entity [8]. Enchondromas expand or erase the cortices and often display a speckled pattern denoting presence of calcium deposits or microcalcifications. This pattern is highly suggestive of enchondroma [1, 2, 6]. Spranger et al. [7] distinguished six categories of multiple enchondromatosis: Ollier’s disease characterized by dissemination of the enchondromas throughout the skeleton with, however, a marked predominance on one side; Marfucci’s disease, in which cutaneous angiomas occur in addition to multiple enchondromas; spondylochondroplasia; enchondromatosis with spinal lesions; and generalized enchondromatosis. In this last category, the enchondromas are found in most tubular

bone metaphyses in the limbs and extremities and are often accompanied with vertebral abnormalities. Paterson et al. [7] reported a case of generalized enchondromatosis and pointed out that histology can provide valuable diagnostic orientation in this disease. The findings in our patient are consistent with either Ollier’s disease or generalized enchondromatosis. In Ollier’s disease, the lesions are bilateral but predominate on one side, and in generalized enchondromatosis some metaphyses are spared. The classification developed by Spanger et al. remains highly controversial, and some presentations may be different expressions of the same disorder [7]. Multiple enchondromatosis can stunt statural growth and induce severe morphological disorders. However, some patients with generalized disease have relatively mild growth disturbances, whereas others with more localized lesions have severe deformities [1]. The diffuse and extensive radiological lesions in our patient contrasted with the mildness of the growth disorders and deformities. This explains why she did not seek medical advice until she was 30 years of age. The most severe complication of multiple enchondromatosis is cancer [1, 9, 10]. Cancer may be most common in Marfucci’s syndrome. It has been estimated that malignant transformation of one or more enchondromas occurs in one-third to one-half of patients with multiple enchondromatosis [2]. Malignant transformation is most common at the pelvis and femur [10]. Development of cortical osteolysis, reactive periostitis, and soft tissue involvement are the main radiological signs alerting to the possibility of chondrosarcoma [10]. Patients with multiple enchondromatosis are also at risk for extraskeletal cancers including brain tumors, ovarian tumors, and adenocarcinomas [9]. Consequently, lifelong clinical and radiological follow-up is imperative. The pathophysiology of multiple enchondromatosis remains unclear. The only available treatments are analgesic agents and surgery to remove tumors or to correct deformities [11, 12]. CONCLUSION We report a case of multiple enchondromatosis in which unusual features included diffuse, extensive, and nearly symmetric radiological lesions of the tubular bones of the limbs and hands with involvement of the

Letters to the Editor

epiphyses, metaphyses, and diaphyses. The severity of the radiological lesions was in sharp contrast with the mildness of the clinical manifestations and with the late diagnosis. Histological findings were unremarkable. Malignant transformation and development of extraskeletal cancers are the main complications of multiple enchondromatosis. The pathophysiology remains unknown, and treatment is limited to palliative measures. REFERENCES


Myelodysplasia revealed by seropositive polyarthritis complicated by bicytopenia after the first methotrexate dose Martin Soubrier, Jean-Jacques Dubost, Patrice Fournier, Christophe Guillemot, Jean-Michel Ristori Rheumatology department, hôpital G. Montpied, 63003 ClermontFerrand, France

1 Marotaux P, Ed. La dyschondroplasie. Les maladies osseuses de l’enfant. Paris: Flammarion Médecine-Sciences; 1974. p. 113-7.

cytopenias / methotrexate / myelodysplasias / rheumatoid arthritis

2 Campanacci M, Ruggieri P. Tumeurs osseuses à histogenèse cartilagineuse. Éditions Techniques – Encycl Méd Chir (Paris France), Appareil locomoteur, 14030 C10, 1992. 30 p.

Methotrexate toxicity is usually cumulative and related to antifolate effects. A few patients, however, experience hematological toxicity after the first methotrexate dose, suggesting an idiosyncratic mechanism. We report the case of a patient with seropositive rheumatoid arthritis in whom evaluation of bicytopenia after the first methotrexate dose led to a diagnosis of myelodysplastic syndrome. A 77-year-old man was admitted in July 1992 for evaluation of inflammatory joint disease. The first symptoms had started 1 year earlier and consisted of inflammatory arthralgia in the shoulders and synovitis in the left wrist. Outpatient laboratory tests showed inflammation (erythrocyte sedimentation rate, 40 mm/ h). Tests were positive for rheumatoid factors (WaalerRose, 1/64; latex test positive). An immunofluorescence assay on mouse liver sections was positive for antinuclear antibodies, in a titer of 1/2560. No antibodies to soluble antigens or to double-stranded DNA were detected. Treatment with a nonsteroidal antiinflammatory drug and an antimalarial agent failed to relieve the manifestations. Glucocorticosteroid therapy was started in a daily dosage of 10 mg. At admission, the patient was febrile. He had lost 9 kg within the last year. Both shoulders were painful to pressure. Synovitis was found in both wrists, most metacarpophalangeal joints, and both knees. Laboratory tests showed inflammation (erythrocyte sedimentation rate, 93 mm/h; C-reactive protein, 42 mg/L) and normocytic anemia (9.4 g/dL, mean corpuscular volume, 80 µ3). The leukocyte count was 4180/mm3 with 2100 neutrophils/ mm3 and 1820 lymphocytes/mm3, and the platelet count was 406,000/mm3. Renal function was normal (creatinine clearance, 125 mL/mm). Serum albumin

3 Mota CR, Marques L, Silva E, Fonseca M, Pinho M, Torcato M, et al. Symmetrical enchondromatosis of the hands and feet in two sisters. J Pediatr Orthop 1997 ; 6B : 15-9. 4 Halal F, Azouz EM. Generalized enchondromatosis in a boy with only platyspondyly in the father. Am J Med Genet 1991 ; 38 : 588-92. 5 Ryckewaert A, Ed. Chondromatose multiple. Rhumatologie: pathologie osseuse et articulaire. Paris: Flammarion MédecineSciences; 1987. p. 163-4. 6 Mainzer F, Minagi H, Steinbach HL. The variable manifestations of multiple enchondromatosis. Radiology 1971 ; 99 : 377-88. 7 Paterson DC, Morris LL, Binns GF, Koslowsky K. Generalized enchondromatosis. J Bone Joint Surg Am 1989 ; 71A : 133-40. 8 Gabos PG, Bower JR. Epiphyseal-metaphyseal enchondromatosis. A new clinical entity. J Bone Joint Surg 1998 ; 80A : 782-92. 9 Schwartz HS, Zimmerman NB, Simon MA, Wroble RR, Millar EA, Bonfiglio M. The malignant potential of enchondromatosis. J Bone Joint Surg 1987 ; 69A : 269-74. 10 Schaison F, Anract P, Coste F, de Pinieux G, Forest M, Tomeno B. Chondrosarcomes secondaires à des maladies cartilagineuses multiples. Étude de 29 cas cliniques et revue de la littérature. Rev Chir Orthop 1999 ; 85 : 834-45. 11 Fatti JF, Mosher JF. Treatment of multiple enchondromatosis of the hand. Orthopedics 1986 ; 9 : 512-8. 12 Urist MR. A 37-year follow-up evaluation of multiple-stage femur and tibia lengthening in dyschondroplasia with a net gain of 23.3 centimeters. Clin. Orthop 1989 ; 242 : 137-57. S1297319X02003792/COR Joint Bone Spine 2002 ; 69 : 236–9