7 Med Genet 1993 30: 704-706

Dominant carpotarsal osteochondromatosis

P Maroteaux, M Le Merrer, H Bensahel, P Freisinger

AbstractDominant carpotarsal osteochondroma-tosis is a particular disorder of the wristand tibiotalar joints with abnormal boneproliferation and osteochondromas. Twopatients, a mother and son, are describedhere; a similar condition has previouslybeen described in seven affected mem-bers of a family. The upper and the lowerlimbs are affected in the same patientand the lesion can be bilateral. Autoso-mal dominant inheritance is a furthercriterion allowing the diagnosis of dys-plasia epiphysealis hemimelica.(J Med Genet 1993;30:704-6)

CNRS-URA 584,Clinique MauriceLamy, Hopital desEnfants-Malades, 149rue de Sevres, 75743Paris Cedex 15,France.P MaroteauxP Freisinger

INSERM U-12,H6pital desEnfants-Malades,Paris, France.M Le Merrer

Service d'Orthopedie,Hopital Robert Debre,Paris, France.H Bensahel

Correspondence toDr Maroteaux.Received 5 January 1993.Accepted 21 January 1993.

In the group of chondrodysplasias with disor-ganised development of cartilage, multiple car-tilaginous exosto.ses, enchondromatosis, andother entities have already been defined,' but anumber of disorders remain insufficientlycharacterised. In the following description wedelineate a particular disorder which has beenconfused with dysplasia epiphysealis hemime-lica; we propose to name this condition 'dom-inant carpotarsal osteochondromatosis'. Wereport two cases in one family.

Case reportsCASE 1Case 1, a boy, was seen for the first time at theage of 16 years for swelling and restrictedmobility of his left ankle. The deformity waslimited to the medial and posterior part of theankle. Flexion and extension at the tibiotarsaljoint and inversion and eversion at the subtalar

joint were restricted. The initial radiologicalexamination of the foot showed a fragmented,irregularly shaped, osteocartilaginous tumourbehind the calcaneus and the talus. This mass,which could not be delimited from the adjac-ent bones, partially occupied the subtalar joint,expanding medially under the malleolus (fig1). A second, round, irregular, ossified struc-ture was noticed next to the fibula. A lateralradiograph from the right foot was normal. Sixmonths later these osteochondromas wereremoved surgically. After six months thepatient presented with a swelling on the pal-mar surface of the right wrist. Additionally hecomplained of limited flexion of the right kneewith one episode of locking.A radiograph of the right hand showed an

osteocartilaginous mass on the proximal end ofthe second metacarpal expanding laterallytowards the trapezoid (fig 2). X rays of theright knee showed a sharply delimited peri-pheral defect of the medial femoral condyle.MRI showed an osseous sequestrum from themedial portion of this condyle. These findingswere in accordance with osteochondritis disse-cans (fig 3).When he was last seen at the age of 17 years,

growth and development were normal(173 cm, 69 kg). Minor asymmetry of the lowerlimbs with a shortening of 2 cm of the left legwas noticed. Flexion of the right knee wasslightly limited. There were hard, deformingswellings under the medial malleolus of theankles on both sides, particularly on the left(fig 4). A small, hard, and painless protuber-ance was observed on the palm of the righthand. The radiographs of the feet confirmedthe recurrence of the tumours in the left foot.On x rays of the right foot, an osteocartilagi-nous mass was visible in front of the tibia justabove the talus (fig 5).X rays of the right hand showed no change

from the previous result and the left handshowed no abnormality. Radiologically the

Figure 1 Case 1, left foot before surgical treatment, showing an important osseousproliferation behind the talus and the calcaneus, which are severely deformed. Note as Figure 2 Case 1, right hand showing deformity of thewell the involvement of the anterior part of the cuboid. proximal end of the second metacarpal.

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Dominant carpotarsal osteochondromatosis

Figure 3 Case 1, MRI of the right knee showingosteochondritis dissecans of the medial femoral condyle.

rest of the skeleton was normal apart fromminor deformities of the 10th to 12th dorsalvertebrae, which showed slight irregularitiesof the end plates, most probably a result ofunnoticed Sheuermann's disease.An axial CT scan of the left ankle and foot

(Dr M Roussey) confirmed the alteration ofthe tarsal bones, particularly the talus and thecalcaneus, which showed an irregular shapeand newly formed ossifications, especially inthe central part of the bones (fig 6). There was

partial synostosis of the calcaneoscaphoidjoint. The lateral part of the scaphoid and thecuboid were also involved, whereas the firstcuneiform appeared normal. The sagittal re-

constructions showed the existence of disorga-nised ossification in front of and behind theankle as well as a deformity of the neck of thetalus of the tibiotarsal joint.

CASE 2

Case 2, aged 52 years, was the mother of case 1.She told us that a deformity of her right wrist

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Figure 5 Case 1, lateral x ray of the right foot showingpresence of a bony mass in front of the tibia and abovethe talus.

was first noticed in adolescence but has notdeveloped since then. Clinical examinationshowed normal growth (168cm). The ankleswere normal. However, a swelling about1.5 cm in diameter could be palpated on thepalmar side of the left wrist.

Radiographs taken at the age of 33 yearsshowed an osteocartilaginous proliferationinvolving the lateral part of the carpus trape-zium, trapezoid, and capitate. This swellingextended to the palmar surface of the wrist. Inaddition, an isolated, triangular shaped ossi-fied structure could be seen distal to the carpusand a second smaller one between the fourthand fifth metacarpal bones (fig 7). There hadbeen no progression over the last 20 years asshown by recent x-rays. On the left foot anirregularly shaped proliferation was seen onthe proximal end of the first metatarsal bone.

Figure 6 Case 1, axial CT scan of the left foot throughthe talus, which is very deformed particularly in itsmedial portion. Note the presence of an osseousproliferation which partially arises from the talus andoccupies a part of the talocalcaneal joint.

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Maroteaux, Le Merrer, Bensahel, Freisinger

DiscussionThe features described here have previouslybeen observed by different authors but havebeen attributed to dysplasia epiphysealis hemi-melica, as in a family with seven affectedmembers in two generations reported byHensinger et al.2 The lesions in these patientswere the same as those described in ourpatients. Their distribution was also very simi-lar. A family was previously reported in whichone patient had epiphyseal lesions of the kneecomparable to those seen in dysplasia epiphy-sealis hemimelica.3 The patient's father hadsimilar changes of the wrist and the tibiotalarjoints. However, the author did not mentionbilateral involvement and, in spite of the in-heritance, it is impossible to affirm that Silver-man3 described the same disorder as we reporthere.The case reported by Hensinger et al2 and

our cases certainly represent a distinct entity,clearly different from dysplasia epiphysealishemimelica as illustrated by the radiologicalfeatures, the localisation of the lesions, and theautosomal dominant inheritance. The natureof the lesions is multiform and they can be verysimilar to those observed in dysplasia epiphy-sealis hemimelica; initially such a diagnosiswas proposed in our first patient. In addition,the abnormalities of the wrist in our secondcase resemble the lesions of the upper limbsobserved in dysplasia epiphysealis hemimelica.This applies to several cases in the report ofHensinger et al.2Some affected bones show disorganised de-

Figure 7 Case 2, radiograph of the left hand at the ageof 33 years showing osseous proliferation of the lateralportion of the carpus.

velopment; their volume is increased, theircontours are irregular, and they frequentlyhave a fragmented aspect and small ossifica-tion points in the periphery.As well as these abnormal proliferations

intra- and extracapsular osteochondromas canbe found. They appear completely indepen-dent from the adjacent skeletal structures. Inour first patient such osteochondromas werefound in the subtalar region and in our secondpatient between the fourth and fifth meta-carpals. They were also described in some ofthe patients of Hensinger et al.2The development of the skeletal lesions pro-

gresses during the growth period but stopsafter puberty as seen in our second patient.Comparison of the radiographs at the age of 52years with those at the age of 33 showed noobvious modifications of the lesions.The localisation of the lesions should be

emphasised: as in dysplasia epiphysealis hemi-melica, the bones of the carpus and the tarsusare exclusively involved. However, the invol-vement, although asymmetrical, can be bila-teral as was observed in our first patient whopresented with lesions of both feet. Bilateralinvolvement was also reported in cases 2, 3,and 5 in the report of Hensinger et al.2The simultaneous involvement of the upper

and the lower limbs should also be noted. Theknee can also be involved and the presence ofosteochondromas in the knee was noted byHensinger et al2 (case 4). Furthermore, osteo-chondritis dissecans was found in our firstpatient. We think that most probably this isnot a coincidental occurrence.Though dysplasia epiphysealis hemimelica

may have variable manifestations, its mode ofinheritance is a further criterion allowing oneto exclude this diagnosis with confidence: it isusually sporadic whereas carpotarsal osteo-chondromatosis is transmitted in an autosomaldominant manner with variable expression inboth our family and that of Hensinger et al.2No other autosomal dominant disorder with

disorganised cartilaginous development, suchas metachondromatosis and multiple cartilagi-nous exostoses, can be confused with the formpresented here. These disorders present typi-cal exostoses of the fingers which are quitedifferent from the lesions described here. Wetherefore think it is useful to distinguish thisrare disorder from dysplasia epiphysealishemimelica with which it should not be con-fused and for which genetic counselling will bequite different.

1 Maroteaux P. Maladies osseuses de l'enfant. 2nd ed. Paris:Flammarion Medecine Sciences Ltd, 1982:1-488.

2 Hensinger RN, Cowell HR, Ramsey PL, Leopold RG.Familial dysplasia epiphysealis hemimelica, associatedwith chondromas and osteochondromas. J Bone J7oint Surg(Am) 1974;56:1513-16.

3 Silverman F. Forms of dysostotic dwarfism of uncertainclassification. Ann Radiol (Paris) 1969;12:995-1005.

4 Azouz EM, Slomic AM, Marton D, Rigault P, Finidori G.The variable manifestations of dysplasia epiphysealishemimelica. Pediatr Radiol 1985;15:44-9.

5 Carlson DH, Wilkinson RH. Variability of unilateral epiphy-seal dysplasia (dysplasia epiphysealis hemimelica). Radio-logy 1979;133:369-73.

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