Poland's Syndrome with Spontaneous Pneumothorax: Report of Two Cases

S.P. Luh, P.C. Yang, and C.J. Lee

POLAND’S SYNDROME WITH SPONTANEOUS PNEUMOTHORAX: REPORT OF TWO CASES

Shi-Ping Luh, Pan-Chyr Yang,1 and Chun-Jean Lee2

Abstract: Poland’s syndrome is an uncommon congenital anomaly of the chest wall (J Formos Med Assoc characterized by the absence of the pectoralis major muscle and other nearby 2002;101:148–51) musculoskeletal components. Many associated aberrations over the thoracic cage, intrathoracic organs, and upper limbs have been reported. However, spontaneous Key words: pneumothorax in these patients has not been reported. Here, we describe two Poland’s anomaly patients with both Poland’s anomaly and spontaneous pneumothorax. One patient spontaneous pneumothorax was a 16-year-old boy with left chest wall hypoplasia and pneumothorax on the right videothoracoscopy side. The other was a 27-year-old man with right chest wall hypoplasia, hand brachydactyly, and pneumothorax. Pneumothorax in both patients was treated with bullectomy and mechanical pleurodesis with the aid of videothoracoscopy, and the postoperative courses were smooth. Blood supply disruption has been hypothesized as a pathogenic mechanism of both spontaneous pneumothorax and Poland’s syndrome, suggesting an association between these two diseases.

Poland’s syndrome, described by Alfred Poland in 1841, manifests as varying degrees of hypoplasia involv- Case Reports ing the thoracic cage in association with anomalies of the hand [1, 2]. The thoracic deformities of Poland’s Case 1 syndrome range from segmental agenesis of the ribs, A 16-year-old boy complained of right chest pain, cough, and sternum, and nearby muscles to simple aplasia of the shortness of breath after exercise on the morning of admission. pectoralis major muscles. There are many associated He had experienced several similar attacks previously with disorders other than chest wall and upper limb less severe symptoms. At first, he was sent to another hospital anomalies, such as lower limb anomalies, congenital for examination and was then transferred to our emergency heart disease, pulmonary or renal hypoplasia, certain room for further evaluation. Physical examination revealed a types of leukemia or sarcoma, craniofacial defect, and tall, slim boy, with an asymmetric chest wall due to hypopla- Möbius’ syndrome [3–6]. The pathogenesis of Poland’s sia of his left pectoral muscle. He looked uncomfortable, with syndrome is still not clear. Blood supply interruption in cold sweating and shallow, rapid breathing. His breathing the subclavian artery has been hypothesized as a mecha- sounds on auscultation were prominently decreased over the nism causing this anomaly [7]. right lung field. No other musculoskeletal or cardiothoracic Poland’s syndrome with spontaneous pneumotho- anomaly was noted. Hemogram and blood chemistry data were normal except for elevated glucose before eating (120 rax has not been previously reported. Here, we de- mg/dL). An electrocardiogram revealed sinus tachycardia scribe two such cases. Compromised blood supply has with right heart strain pattern. Chest roentgenogram revealed also been hypothesized as a mechanism causing pul- hyperlucency over the right lung field. Tube thoracostomy monary bullae and spontaneous pneumothorax [8], was performed under the impression of right-sided suggesting an association between Poland’s syndrome pneumothorax. His symptoms were partially relieved after and these two diseases. the intrapleural air was released. However, persistent air-

Department of Surgery, Kuang Tien General Hospital, Hong Kuang College of Technology, and Departments of 1Internal Medicine and 2Surgery, National Taiwan University Hospital, Taipei. Received: 10 May 2001. Revised: 6 July 2001. Accepted: 9 October 2001. Reprint requests and correspondence to: Dr. Chun-Jean Lee, Department of Surgery, National Taiwan University Hospital, Room 8–10, 7 Chung-Shan South Road, Taipei, Taiwan.

148 J Formos Med Assoc 2002 • Vol 101 • No 2 Poland’s Syndrome with Pneumothorax leakage from the chest tube, a poorly expanded right lung, A and repeated attack history made him a candidate for surgical intervention. Thoracoscopy revealed a group of apical blebs at the apex of the right lung surface. Therefore, blebectomy using endo-gastrointestinal anastomosis stapling and mechanical pleurodesis using gauze abrasion were performed with the aid of thoracoscopy. The postoperative course was uneventful. The chest drainage tube was removed 4 days later and the patient was discharged 5 days after surgery. No recurrence of pneumothorax was noted during the 24-month follow-up period.

Case 2 A 27-year-old man had suffered from repeated attacks of right chest pain for 1 year, but he had ignored these pains. Congenital agenesis of the right pectoralis major muscle with right brachysyndactyly had been noted since childhood (Fig. 1). On the occasion of this last attack severe chest pain was noted, and he was admitted to our ward for further evaluation a day later. Besides the thoracic and musculoskeletal anomalies, prominent decreased breathing sounds were noted over the right lung field. Chest roentgenogram and computerized tomogram revealed a right-sided hemopneumothorax with agenesis of the right pectoralis major muscle (Fig. 2). His discomfort was not relieved after tube thoracostomy and subcutaneous emphysema appeared over his neck, trunk, and upper limbs. Surgical intervention was indicated due to B repeated attacks and resistance to conservative treatment. On thoracoscopic examination, a 2-cm ruptured bulla, based at the apex of the lung, was found adherent to the adjacent chest wall. Pneumolysis, bullectomy, and mechanical pleurodesis were performed with the aid of thoracoscopy. He was dis-

Fig. 2. Case 2. A) Chest roentgenogram shows right hemopneumothorax. B) Chest computerized tomography shows agenesis of the right pectoralis muscle.

charged after removal of his chest tube 3 days after surgery. One episode of partial pneumothorax was noted during 23- months' follow-up, from which the patient recovered after bed rest and observation.

Discussion

Fig. 1. Case 2. Brachysyndactyly of the right fingers and absence of Poland’s syndrome manifests as varying degrees of right pectoralis major muscle. thoracic cage hypoplasia and anomalies of the hand.

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This anomaly might be confined, with only partial struction involves the latissmus dorsi muscle, which is absence of the pectoralis major muscle, or more severe transferred to the anterior chest wall, while preserving in configuration, involving agenesis of the ribs, sternum, the neurovascular pedicle. Breast prosthesis might be scoliosis, brachysyndactyly, or mammary aplasia, and included in this reconstruction in women. Chest wall absence of the latissmus dorsi, serratus anterior, or prosthesis is not recommended because of complica- other nearby structures [3, 9–11]. Combined anoma- tions associated with its insertion, such as migration, lies have been reported such as congenital heart disease, local tissue erosion, and adverse cosmesis. Both of our pulmonary and renal hypoplasia, diaphragmatic hernia, patients refused surgical reconstruction for their tho- lower limb anomalies, craniofacial defects, and Möbius’ racic wall anomaly. syndrome. Moreover, certain malignancies such as Poland’s anomaly with spontaneous pneumotho- lung and breast carcinoma, leukemia, Wilm’s tumor, rax has not been previously reported. Although clinical or leiomyosarcoma have also been described in associa- data on the association of these conditions is limited to tion with Poland’s syndrome [4–6, 12–15]. Bullous this report, they might share some common patho- pulmonary disease associated with Poland’s syndrome genic mechanism such as compromised blood supply. has been reported [16]. However, spontaneous pneu- Although one of our patients had pneumothorax on mothorax in such patients has not been previously the same side as the thoracic wall anomaly, the other described. had pneumothorax on the opposite side to the anomaly. The pathogenesis of Poland’s syndrome is still These patients might have had bilateral pulmonary unclear. However, Bavinck and Weaver proposed that blebs, and pneumothorax might have occurred inci- the related Poland, Klippel-Feil, and Möbius anoma- dentally on one side only. Either the blebs (unilateral lies are the result of an interruption of the early embry- or bilateral) or chest wall anomaly can be attributed to onic blood supply in the subclavian arteries, the vertebral a common pathogenesis (compromised brachial arch arteries, or their branches [7]. They hypothesized that blood supply in embryo). We can also hypothesize that the occlusions occur at specific locations in these ves- our patient with pneumothorax contralateral to the sels at around the sixth week of embryologic chest wall anomaly might have had two different bra- development. The birth defects represented by these chial arch blood supply defects. However, more such conditions arise through a process called the subcla- cases need to be reported to clarify the relationship of vian artery supply disruption sequence. these two diseases. The most likely cause of a primary spontaneous pneumothorax is the rupture of small blebs or bullae [8, 17]. This may occur at rest or during exercise, and it is seen most often in young tall males with smoking eferences habits [18]. The pathogenesis of the blebs or bullae is R not clear, but might be related to an increased apex-to- base intra-alveolar pressure gradient, small airway par- 1. Poland A: Deficiency of the pectoralis muscle. Guy’s tial obstruction, or compromised blood supply. The Hospital Reports 1841;6:191–3. diagnosis of pneumothorax is best confirmed by erect 2. Seyfer CA, Icochea LR, Graeber GM: Poland’s anomaly. posteroanterior and lateral chest roentgenogram. Pri- Natural history and long-term results of chest wall reconstruction in 33 patients. Ann Surg 1988;208:776–82. mary spontaneous pneumothorax can be treated by 3. DeSmet L, Fryns JP: Symbrachydactyly involving both the close observation, aspiration and small tube drainage, hand and foot. Clin Genet 1999;56:176–7. conventional tube thoracostomy, or ambulatory tube 4. Fraser FC, Teebi AS, Walsh S, et al: Poland sequence with drainage. Indications for surgical intervention include dextrocardia: which comes first? Am J Med Genet 1997;73: prolonged air-leak, poor re-expansion of the lung, 194–6. bilateral pneumothorax, tension pneumothorax, asso- 5. Erdogan B, Akoz T, Gorgu M, et al: Possibly new multiple ciated bullae or blebs, occupational hazard, or recur- congenital anomaly syndrome: cranio-fronto-nasal dyspla- rent pneumothorax. Blebectomy or bullectomy and sia with Poland anomaly. Am J Med Genet 1996;65:222–5. mechanical (gauze abrasion) or chemical (talc or 6. Mace JW, Kaplan JM, Schanberger JE, et al: Poland’s tetracycline) pleurodesis can be performed through syndrome: report of seven cases and review of literature. thoracotomy or videothoracoscopy [19, 20]. The re- Clin Pediatr (Phila) 1972;11:98–102. 7. Bavinck JNB, Weaver DD: Subclavian artery supply dis- currence rate can be remarkably decreased after sur- ruption sequence: hypothesis of a vascular etiology for gery (2%) as compared with non-surgical treatment Poland, Klippel-Feil, and Mobius anomalies. Am J Med (7–50%) [20]. Genet 1986;23:903–18. Thoracic anomalies of Poland’s syndrome can also 8. Luh SP, Lee YC, Lee JM, et al: Videothoracoscopic treat- be reconstructed surgically, in cases where these aber- ment of spontaneous pneumothorax. Int Surg 1996;81: rations are severe [2]. The most commonly used recon- 336–8.

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