Poland’s syndrome mimicking traumatic chest injury
- 1 Cardiology Department, University Hospital Lewisham, London, UK
- 2 Surgery Department, Universiti Malaysia Sabah, Kota Kinabalu, Malaysia
- Correspondence to Dr May Honey Ohn; mayhoney.ohn@gmail.com
Abstract
Poland’s syndrome (PS) is a rare developmental anomaly that can manifest mild (pectoralis muscles involvement) to severe deformities (rib hypoplasia and hand deformities). We report a case of 69-year-old man who presented to the emergency department with a traumatic chest injury after a fall. It was initially thought to have a significant chest injury as the trauma survey revealed a palpable defect and tenderness in the right anterior chest wall. There was also a symbrachydactyly deformity in the right hand. CT of the chest showed lack of right pectoralis muscles, which were consistent with PS. This case highlights the importance of gathering detail history in adult trauma patients such as congenital disorder especially in the presence of bony deformity. With possibilities of several traumatic conditions in trauma patients eliminated, one can expand the non-traumatic differential, keeping in mind the possibility of a congenital disorder that can mimic traumatic chest injury.
Background
Alfred Poland was a pioneer of Poland’s syndrome (PS) in 1841. It is a rare developmental anomaly characterised by; (a) agenesis or hypoplasia of the anterior chest wall muscles such as pectoralis major and/or minor muscles, (b) underdevelopment of ipsilateral breast and subcutaneous tissues, (c) multiple rib and scapula abnormalities, and (d) a variety of ipsilateral digit abnormalities such as shortened carpels and phalanges (brachydactyly).1 PS is usually regarded as a non-familial disorder due to its sporadic nature.2 However, rarely the condition is proposed to be an inheritable trait of an autosomal dominant disorder.1 Aetiology is unknown,3 but it has been postulated that PS is due to a defect in vascular supply from the subclavian artery or their branches within the early development of the fetus, approximately around the sixth week of the gestation period.4 This is a time of the division of pectoralis major heads and also the development of digits. Individuals can have different manifestations, ranging from mild (eg, only pectoralis involvement) to severe deformities (eg, rib hypoplasia, a complete absence of ipsilateral hand, dextrocardia, lung herniation and pneumothorax). Some cases have described as association with neoplasms such as leukaemia, lymphoma, leiomyosarcoma, breast cancer, neuroblastoma and Wilms’ tumour. Cardiac or respiratory manifestations alert the clinicians for further workup in PS. It can also be associated with several neoplasms and organ involvements (dextrocardia and spontaneous pneumothorax).5 6 In minority of cases for aesthetic purpose, fat grafting or muscle flap for pectoral reconstruction in men and mammary reconstruction with a silicone implant in women are the most common procedures performed around the puberty to correct muscle defect and breast hypoplasia.7 Correction of limb deformities can be considered during early childhood period.8 We report a case of PS diagnosed in a 69-year-old man who presented with a fall, which mimics traumatic chest injury with a positive primary survey finding due to a palpable defect in the unilateral chest wall.
Case presentation
A 69-year-old man presented to the emergency department with right-sided chest pain after a fall from a standing position. He tripped over a dog and fell onto a low lying brick wall that knocked against his right anterior rib cage an hour ago. He denied any medical history. Vital signs were as follows: afebrile, blood pressure of 110/68 mm Hg, heart rate of 101 beats/min, respiratory rate of 25 breaths/min and oxygen saturation of 97% under room air. The primary survey showed minor chest wall asymmetry, marked unilateral chest wall tenderness and palpable defect on the right anterior chest wall. General examination revealed symbrachydactyly (brachydactyly, syndactyly and global hypoplasia) deformity on the right hand (figure 1). Otherwise, there was no underdeveloped or missing nipple on the affected side and no dextrocardia.
Symbrachydactyly (brachydactyly, syndactyly and global hypoplasia) of the right hand was noted.
Investigations
Initial chest radiograph was unremarkable (figure 2). In the context of age above 65 years, mechanism of injury and positive trauma survey findings in a trauma patient, CT scan of thorax was performed (figure 3). A radiological diagnosis of PS was made because of the absence of the right pectoralis major and minor muscles.
Chest radiograph did not show any abnormalities such as fractured rib or haemopneumothorax.
Axial contrast-enhanced CT of the patient’s chest showed the absence of right pectoralis major and minor muscles (white stars), which were consistent with Poland’s syndrome.
Outcome and follow-up
The patient was explained about the diagnosis of PS, which was an incidental finding from the trauma survey after presentation with a traumatic chest. Being a benign rare condition and asymptomatic till this age, no further investigation was recommended apart from genetic counselling due to a slim chance of familial disorder.
Differential diagnosis
Other pre-existing differential diagnosis can be considered such as previous surgery or trauma, congenital chest wall and/or limb anomalies, Swyer-James syndrome and Amazone syndrome.
Discussion
This is an interesting case of a trauma patient who presented to the emergency department after a fall and sustained a traumatic chest injury. Fall from standing position in elderly patients with traumatic chest pain could result in disability or death, which calls for a systematic trauma survey. Advanced trauma life support assessment consists of focused SAMPLE history (symptoms, allergy, medication, past medical history, last meal and events or mechanism of injury) and trauma examination (primary, secondary and tertiary survey) to look for significant injuries in trauma patients. The congenital history is not commonly explored during focused history taking in an adult trauma patient. This case points out the importance of gathering detailed history in adult trauma patient such as congenital disease especially in the presence of bony deformity. The incidence of PS ranges between 1 in 10 000 and 1 in 1 00 000. As in our case, PS is more common in male and right-sided anomalies are more commoner than left-sided.9 Although the diagnosis of PS arrives within the first year of life in most cases,10 our patient was not aware of this disorder till this age. Therefore, it was initially thought to have a significant chest injury since a trauma survey revealed a palpable defect and tenderness in the unilateral anterior chest wall, which corresponded to the mechanism of his injury. Although a rare congenital abnormality can imitate a traumatic condition, normal vital signs do not necessarily rule out the absence of a traumatic chest injury. As such, to better differentiate acute from a pre-existing congenital disease, it is prudent to do a thorough systemic physical examination looking for the presence or absence of deformities. This approach will systematically eliminate or suggest acute traumatic diagnoses. In this case, PS was an incidental finding from the clinical and radiology examination in the context of an unknown congenital disorder. Minor chest wall asymmetry with a palpable defect in the pectoral region, limb deformity (symbrachydactyly) and radiological investigation (lack of pectoralis major and minor muscles in CT of the chest) confirmed PS during trauma assessment. In conclusion, PS chest deformity can mimic traumatic chest injury, which might unnecessarily need radiological exposure from contrast investigation. With possibilities of several traumatic conditions in trauma patients such as rib fracture, pneumohaemothorax or pulmonary contusion eliminated, one can expand the (non-traumatic) differential diagnosis, keeping in mind the possibility of a congenital disorder can be present.
Learning points
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Fall from standing position in elderly patients aged 65 years old and above could result in disability or death, which calls for a systematic trauma survey.
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In the context of an unknown congenital disorder, Poland’s syndrome chest deformity can mimic traumatic chest injury, which might unnecessarily need radiological exposure.
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To better differentiate acute from a pre-existing congenital disease, detailed medical history, including congenital disorder and thorough systemic examination findings, should be applied together to process multiple diagnostic clues in trauma patients.
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With possibilities of several traumatic conditions in trauma patients such as rib fracture, pneumohaemothorax or pulmonary contusion eliminated, one can expand the (non-traumatic) differential, keeping in mind the possibility of a congenital disorder can be present.
References
Footnotes
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Contributors MHO was involved with case identification, diagnosis and informed consent as an attending. KMO was involved in the initial manuscript write-up and literature review. Both authors reviewed and proofread the final manuscript.
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Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
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Competing interests None declared.
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Provenance and peer review Not commissioned; externally peer reviewed.
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