Ann Thorac Surg 2007;83:1518-1519
© 2007 The Society of Thoracic Surgeons
Case Reports
Surgical Resection of Melorheostosis in the Ribs
Binayak Chanda, MRCS*,
Russell W.J. Millner, FRCS (C-Th)
Cardiothoracic Surgery, Blackpool Victoria Hospital, Lancashire, United Kingdom
Accepted for publication September 18, 2006.
* Address correspondence to Mr Chanda, Cardiothoracic Surgery, Lancashire Cardiac Centre, Blackpool Victoria Hospital, Blackpool, Lancashire FY3 8NL, UK (Email: bchanda{at}tiscali.co.uk).
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Abstract
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Melorheostosis is a rare nongenetic developmental anomaly of the cortical bone. We present a 40-year-old woman who was diagnosed with melorheostosis affecting the ribs only. Chronic pain and cosmetic deformity were her presenting symptoms. She underwent posterolateral thoracotomy and excision of the affected ribs, with a satisfactory outcome of this uncommon presentation.
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Introduction
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Leri and Joanny first reported melorheostosis in 1922. It can be described as a developmental anomaly of bone density. The characteristic radiologic findings are of flowing hyperostosis resembling dripping candle wax, hence the original description of hyperostose en coulée. The cause of this rare mesodermal disease remains unknown, but the gene implicated in its pathogenesis is the LEMD3 gene or the MAN1 gene, where there is presumed to be loss-of-function mutation [1].
Recent studies by Hellemans and colleagues [2], however, show that no such mutations were observed in isolated and sporadic cases of melorheostosis, which suggests that the genetic basis still remains unknown. According to Freyschmidt [3], mosaicism is a better explanation for the sporadic occurrence, the asymmetric "segmental" pattern with variable extent of involvement, and equal gender ratio of the disease.
A 40-year-old woman was referred by the Orthopaedic Department with a long-standing history of left-sided chest pain and obvious skeletal deformity. There was no history of any trauma. Her main presenting problems were chronic pain and swelling on the left chest that caused debility and limitations in her social life. Other than her history of smoking, there were no significant comorbidities.
Physical examination revealed a significant swelling in her left chest wall. There were no abnormalities in auscultation of her chest, and the rest of her skeletal system was normal. An initial roentgenogram revealed the candle wax–dripping pattern affecting her left seventh and eighth ribs only (Fig 1). This was confirmed on subsequent computed tomography scans.
She was admitted for elective surgical resection of the bone lesion. After isolation of the left lung with a double-lumen endotracheal tube, a left posterolateral thoracotomy approach was adopted. Careful dissection revealed the disease affecting the entire length of the left seventh and eighth ribs up to the costal cartilages in the front and to the vertebral bodies posteriorly. This was carefully excised out, and after hemostasis, the defect was closed with Prolene mesh (Ethicon, Somerville, NJ) sutured to the surrounding ribs. The wound was closed in layers in the usual manner.
The patient was transferred to the ward for further recovery. Adequate analgesia in the form of epidural bupivacaine was provided to prevent complication such as atelectasis. After an uncomplicated recovery, the patient was discharged home on postoperative day 7 with significant reduction of chronic pain. Expectedly, she did have some surgical pain in view of her recent thoracotomy, but this was well controlled with oral analgesics.
The patient has since been reviewed in the outpatient clinic, where she continued to make very satisfactory progress with almost complete resolution of her chronic symptoms. The bone excised was sent for histologic assessment, which was reported as showing extensive hyperostosis in keeping with the diagnosis of melorheostosis.
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Comment
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Patients with melorheostosis may be asymptomatic or may present with chronic symptoms such as pain, stiffness, limited mobility, and cosmetic deformity. There is equal predilection for both sexes, and the disease process usually starts in childhood and adolescence and progresses into early adulthood. Patients may have associated cutaneous and soft tissue lesions such as vascular malformations, neurofibromatosis, hemangioma, arterial aneurysms, linear scleroderma, tuberous sclerosis, and focal subcutaneous fibrosis. Isolated cases of malignancy have been reported in association with melorheostosis, including osteosarcoma and a case of malignant fibrous histiocytoma.
Melorheostosis affects mainly the long bones of the limbs, but also the short bones of the hand and foot and, rarely, the axial skeleton. Melorheostosis affecting the ribs is relatively uncommon [4]. Soft-tissue ossifications at the site of the joint are common. Bone scintigraphy is positive and shows moderately increased uptake of the tracer. Computed tomography and magnetic resonance imaging can further characterize the lesion but rarely contribute to the diagnosis. A biopsy of the bone lesion is unnecessary because the diagnosis can be made from the radiologic appearance itself [5].
Even though melorheostosis is benign in nature, chronic pain and deformity can be debilitating. Surgical intervention is advocated in chronic debilitating symptoms.
Successful resection of these lesions can translate into near complete resolution of symptoms. Hence, we suggest that such lesions in the thoracic cage are best dealt with surgically.
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References
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- Greenspan A, Azouz EM. Bone dysplasia seriesMelorheostosis: review and update. Can Assoc Radiol J 1999;50:324-330.[Medline]
- Hellemans J, Preobrazhenska O, Willaert A, et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis Nat Genet 2004;36:1213-1218.[Medline]
- Freyschmidt J. Melorheostosis: a review of 23 cases Eur Radiol 2001;11:474-479.[Medline]
- Nasu K, Kuroki Y, Nawano S, et al. Thoracic cage extent of melorheostosis depicted by multislice CT Skeletal Radiol 2002;31:464-466.[Medline]
- Judkiewicz AM, Murphey, MD, Resnik CS, Newberg AH, Temple HT, Smith WS. Advanced imaging of melorheostosis with emphasis on MRI Skeletal Radiol 2001;30:447-453.[Medline]
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Abstract
Introduction
