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RESPIRATORY MEDICINE (1999) 93, 217-219

Case Report A thoracic complication of hereditary multiple exostoses in an adult

J. A. NICK*+, D. A. LYNCH+, M. I. SCHWARZ* AND M. E. HANLEY*

“Division of Pulmonary Sciencesand Critical Care Medicine and ‘Department of Radiology, University of Colorado Health ScienceCenter, Denver, Colorado, U.S.A. *National Jewish Medical and Research Center, Denver, Colorado, U.S.A.

Hereditary multiple exostoses (HME) is a skeletal disorder characterized by formation of cartilage-capped promi- nences(exostoses) arising from the epiphyseal plates of long bones (1). Characteristic features of affected individuals include short stature and multiple skeletal deformities. Reported complications of this disorder include penetration or compression of visceral organs, nerves, or blood vessels by adjacent exostoses (2-6). Such complications occur almost exclusively in children and adolescents. With puberty, growth of the lesions usually ceaseswith closure of the epiphyseal plates. Thoracic complications of HME are rare, although several cases of haemothorax have been described. We report the case of a 39-year-old man with HME presenting with pleuritic chest pain as a result of an exostosis. This is the oldest patient reported to date with a thoracic complication of HME, and his clinical course was significantly different from previous descriptions.

Case Report FIG. 1. Cross-sectional CT scan at the level of the 5th rib A 39-year-old man presented with 8 months of worsening with an exostosis (arrow) projecting into the chest. A left-sided pleuritic chest pain as well as chronic right knee needle was placed under CT guidance to localize the pain. The patient was diagnosed with HME as a child. position of the lesion externally prior to resection. Physical examination revealed a short stature (138 cm) with bowing of the forearms and ulnar deviation of the wrists. Auscultation of the heart and lungs was normal, and no abnormalities of the chest wall were detected. Bony protu- Pathological examination of the excised rib demonstrated a berances were palpated at the right tibia1 head. A chest benign cartilaginous exostosis. radiograph was unremarkable, but films of the right tibia confirmed the presence of several exostoses. A computed tomographic (CT) scan of the chest revealed the presence of an exostosis arising from the fifth rib with projection into Discussion the thoracic cavity (Fig. 1). The rib was resected. An area of abrasion was noted on the visceral pleura adjacent to the HME is transmitted as an autosomal dominant trait with exostosis. The pleuritic pain resolved postoperatively. complete penetrance and an equal male to female sex ratio (7). The prevalence of HME is estimated at 1 in 50,000 (3). Mutations resulting in HME occur in genes on chromo- Received 23 July 1998 and accepted in revised form 6 November 1998. somes 8, 11 and 19 (3,5,8-10). Exostoses most commonly Correspondence should be addressed to: Jerry A. Nick, M.D., involve the knee, but approximately 40% of individuals National Jewish Medical and Research Center, 1400 Jackson with HME have rib involvement (3). All reports of thoracic Street, D-403, Denver, CO 80206, U.S.A. Fax: (303) 398-1851; complications of exostoses are reviewed in Table 1. E-mail: [email protected] The most common thoracic complication of HME is

0954-6111/99/030217+03 $12.00/O 0 1999 W. B. SAUNDERS COMPANY LTD 218 J. A. NICK ET AL.

TABLE 1, Reported thoracic complications of exostoses

Year Age (years)/sex Underlying condition Duration of symptoms Finding at presentation Reference

1994 3.5/male Solitary exostosis 24 h Haemothorax (14) 1989 7lmale HME 12h Haemothorax due to (15) laceration of diaphragm 1980 9lmale HME <24h Haemothorax (11) 1995 12lmale HME ~24 h Haemothorax (12) 1989 14/male Solitary exostosis 24 h Haemothorax 16) 1980 16/male HME 48 h Haemothorax (11) 1997 17/male HME 25 h Haemothorax due to (17) laceration of diaphragm 1978 18/male HME N/A Haemothorax (18) History of tuberculosis 1993 19/male HME c24h Haemothorax (19) 1981 20lmale HME 2 months Haemothorax due to (20) laceration of diaphragm 1975 23/male HME 2 weeks Haemothorax (21) 1992 26/male HME N/A Pneumothorax (22) Pulmonary alveolar microlithiasis 1998 39/male HME 8 months Abrasion of visceral pleura Nick

HME, Hereditary multiple exostoses; N/A, not available. spontaneous haemothorax as the sharp margins of an concerns of malignant transformation, further necessitating exostosis can shear the parietal and visceral pleura. removal of the lesion. Several important features distinguish the present case Of particular interest is the observation that all reported from other described thoracic complications of exostoses. casesof thoracic complications resulting from costal exos- First, this patient presented with pleuritic chest pain in toses occur in men (Table 1). HME is transmitted in an mid-life, while other reported caseshave occurred predomi- autosomal dominant fashion, therefore it is expected that nantly in childhood or adolescence (mean age of 15 years). an equal number of women would have thoracic complica- Secondly, this individual experienced gradually increasing tions. Although earlier reviews of HME have reported a pleuritic pain over a period of 8 months prior to resection preponderance of affected men (13) studies which exam- of the lesion. In the majority of reports, acute onset of ined all members of nuclear families have found no signifi- pleuritic pain proceeded laceration of the visceral pleura by cant difference in prevalence between the sexes (3,7). less then 1 day. Haemothorax was diagnosed within 48 h in Wicklund and co-authors reported that significantly more all but two patients (Table 1). Only the patient reported exostoses are surgically removed in men compared to here did not present with a haemothorax or pneumothorax, women (a mean of 5.3 and 1.0, respectively) and suggested although at the time of surgery an abrasion of the visceral that on average, men are either more severely affected or pleural was present adjacent to the exostosis. It is likely that seek medical attention more often then do affected women if resection of the exostosis had been postponed, this (7). The data regarding thoracic complications compiled in individual would have eventually developed a haemothorax this report support the conclusion that men are more or pneumothorax. These observations support the conclu- severely affected. sion that while rare, costal exostoses can first present in adulthood and may be less likely to result in haemothorax. Instead, exostoses in adults with HME follow a more indolent course and should be included in the differential of References persistent pleuritic chest pain. CT scanning will establish the existence of an exostosis if the chest radiograph is 1. Solomon L. Hereditary multiple exostosis. J Bone Joint normal. Prompt surgical removal of the exostosis was Surg 1963; 45B: 292-304. performed in all but two of the cases with haemothorax 2. Hanrahan PS, Edelman J, Brash S. Spontaneous (11,12) and is usually indicated to prevent ongoing lung hemarthrosis associated with a exostosis of the talus. J injury. Rarely, benign exostoses undergo conversion to Rheumatol 1987; 14: 171. chondrosarcoma, with a lifetime incidence of l-3% in 3. Schmale GA, Conrad EU, Raskind WH. The natural individuals with HME (3,7). In the present casethe unusual history of hereditary multiple exostoses. J Bone Joint presentation of an exostosis in the fourth decade raised Surg 1994; 76A: 986-992. THORACIC COMPLICATION OF HME 219

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