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Poland syndrome: causes, diagnosis and treatment

Investigation Ricardo Cavalcanti Ribeiro et al. aimed to propose a clinical and radiographic classification system for Poland syndrome and develop a treatment algorithm specifically addressing the thoracic manifestations of Poland syndrome in women

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Язык	английский
Дата добавления	16.06.2024
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Poland syndrome: causes, diagnosis and treatment

Dzhyvak Volodymyr Georgiyovych PhD (Medicine), MD, Assistant Professor of department of Children's Diseases and Pediatric Surgery, I. Horbachevsky Ternopil National Medical University

Protsailo Mykhailo Dmytrovych PhD, MD, Associate Professor of the department of Children's Diseases and Pediatric Surgery, I. Horbachevsky Ternopil National Medical University

Kucher Svitlana Viktorivna PhD, MD, Associate Professor of department of Internal Medicine Propedeutics and Phthisiology, I. Horbachevsky Ternopil National Medical University

Abstract

mponents like thrombi and emboli, alongside external mechanical factors such as the presence of cervical ribs, abnormal muscle formations, or the existence

of amniotic bands. These diverse factors have the potential to disturb vascular integrity, causing deviations from typical blood flow dynamics and potentially precipitating a range of vascular abnormalities or syndromes [24].

More detail regarding the clinical manifestations of Poland syndrome:

Unilateral Chest Muscle Absence or Underdevelopment	The hallmark characteristic of Poland syndrome is the absence or underdevelopment of the pectoralis major muscle, particularly the sternal portion. This results in asymmetry of the chest wall, with the affected side appearing flatter or smaller compared to the unaffected side. In severe cases, the entire pectoralis major muscle may be missing, while in milder cases, only a portion of the muscle may be affected.
Hand Anomalies	Hand abnormalities are common in Poland syndrome and typically affect the fingers on the same side as the chest muscle defect. These abnormalities may include syndactyly (fusion of fingers), brachydactyly (shortened fingers), or hypoplasia of the fingers. The thumb may also be affected, with variations in size or shape compared to the unaffected side.
Rib Anomalies	Individuals with Poland syndrome may have missing or hypoplastic ribs on the affected side, contributing to the asymmetry of the chest wall. Rib anomalies are typically observed in the upper ribs, often affecting the second through fourth ribs.
Breast Anomalies	In females, Poland syndrome can lead to underdevelopment or absence of breast tissue on the affected side, resulting in breast asymmetry. The severity of breast anomalies can vary, ranging from mild hypoplasia to complete absence of breast tissue.
Shoulder and Arm Abnormalities	Some individuals with Poland syndrome may exhibit abnormalities of the shoulder joint or arm on the affected side. These abnormalities can include reduced range of motion, differences in muscle tone, or anomalies of the shoulder blade (scapula). Additionally, there may be differences in the length or circumference of the affected arm compared to the unaffected side.
Facial Asymmetry	Although less common, Poland syndrome may be associated with facial asymmetry, characterized by differences in the size or position of facial features on the affected side. These differences may include variations in the size or shape of the eyes, nose, mouth, or jaw.

Overall, the clinical manifestations of Poland syndrome can vary widely in severity and combination among affected individuals. The condition is typically unilateral, affecting only one side of the body, and the specific features present may depend on the extent of muscle and tissue involvement. Many physicians utilize Foucras's classification, which assigns grades I-III to categorize the severity of Poland syndrome [25,26]:

- Grade I typically denotes a mild chest deformity characterized by hypoplasia of the pectoralis major muscle and moderate breast hypoplasia. This grade is often identified through slight chest wall asymmetry in men and breast asymmetry in women upon examination.

Grade II entails marked aplasia or hypoplasia of the pectoralis major muscle, along with possible deformities of other chest wall muscles and ribs. It manifests as pronounced chest wall asymmetry in men and significant breast asymmetry in women.

Grade III encompasses complete muscular and breast aplasia, including absence of other chest wall muscles, along with major bone and cartilage anomalies such as rib and sternal deformities. Upon physical examination, this grade presents as severe chest wall asymmetry in both men and women, and breast asymmetry with aplasia in women.

In study, conducted by M. M. Al-Qattan, 20 cases of Poland syndrome were examined and classified using an extended classification system [27]. The clinical diagnosis of Poland syndrome was established based on the presence of hypoplasia or aplasia of the sternocostal head of the pectoralis major muscle. Data collection included gathering information on medical history, clinical examination of hand and limb anomalies, radiographic findings, any associated thoracic or systemic abnormalities, and details of treatment. Among the 20 patients with Poland syndrome, 12 were male and eight were female. The syndrome predominantly affected the right side in 11 patients and the left side in nine patients. Notably, there was no reported family history of limb or pectoral defects in any of the cases.

Diagnostic

Clinical examination	This is the first stage of diagnosis, during which the doctor evaluates the clinical signs of Poland syndrome. This includes identifying chest asymmetry, hand and finger abnormalities on the affected side, and possible other abnormalities that may be associated with the syndrome.
Radiography	Chest radiography allows to determine the condition of the ribs and detect their absence or hypoplasia on the affected side. It can also confirm the absence or underdevelopment of the sternal part of the pectoralis major muscle.
Ultrasound examination	Ultrasound can help assess the structure of the chest muscles and determine the presence of any abnormalities on the affected side. It is especially useful in infants and children.
Computed tomography (CT):	A CT scan provides detailed three-dimensional images of the chest, ribs, and muscles, which can provide more accurate information about missing or hypoplastic ribs and muscles
Magnetic resonance imaging (MRI)	MRI can be used to obtain more detailed images of the structure of the chest muscles and their interaction with the surrounding tissues
Genetic testing	Genetic testing can be helpful in finding specific genetic abnormalities that may be associated with Poland syndrome. However, it is important to note that Poland syndrome is not usually caused by one specific genetic mutation
Consultation with specialists	An important part of the diagnosis is consulting a specialist, such as a plastic surgeon, orthopedic surgeon, or geneticist. They can provide additional recommendations for the diagnosis and treatment of Poland syndrome, as well as the management of any complications.

poland syndrome diagnosis

Investigation Ricardo Cavalcanti Ribeiro et al. aimed to propose a clinical and radiographic classification system for Poland syndrome (CRPS) and develop a treatment algorithm specifically addressing the thoracic manifestations of Poland syndrome in women [28]. It was based on a combination of clinical examinations and imaging studies. Methodologically, the study was retrospective, involving 28 female patients assessed over a period of 17 years at the 28th Infirmary, Plastic and Reconstructive Surgery Division of the Hospital Santa Casa da Misericordia do Rio de Janeiro, Brazil. Following clinical examination, all patients underwent radiographic assessments, including chest radiographs, conventional computed tomography (CT) scans, magnetic resonance imaging (MRI), and, in certain cases, additional imaging studies. All clinical and radiologic data were compiled into a database and utilized in the proposed classification system, which categorized the syndrome into three levels of severity. The results of the study, based on the CRPS classification of the 28 female patients, indicated that 10 patients had first-degree PS, 14 patients had second-degree PS, and four patients had third-degree PS. Eighteen of the patients underwent surgical correction, with a total of 39 surgical procedures performed following the CRPS algorithm. In conclusion, the proposed classification system facilitated the identification of the severity of PS in each patient, enabling a more accurate assessment of the condition. This, in turn, allowed for better planning of surgical interventions aimed at correcting both functional and aesthetic deformities associated with Poland syndrome.

Case Parenti, V. G. et al. describes a newborn male presenting with a combination of Poland syndrome and Mobius syndrome, both rare congenital disorders [29]. Poland syndrome involves a deficiency of the pectoral musculature, while Mobius syndrome is characterized by absence or hypoplasia of the facial or abducens nerve. The patient exhibited facial paresis, mouth droop, and a mask-like face, along with asymmetry of the chest. Mobius syndrome was suspected based on genetic evaluation, and magnetic resonance imaging (MRI) confirmed hypoplasia of the right facial nerve and absence of the left facial nerve. Despite chest radiographs initially showing opacities throughout both lungs, which obscured Poland syndrome radiographic findings, a subsequent radiograph at 2 years of age revealed a hyperlucent left hemithorax indicative of Poland syndrome. Further confirmation was obtained through chest computed tomography (CT), which showed severe hypoplasia of the left pectoral musculature. The patient, now 9 years old, still experiences complete paralysis of the left side of his face and cannot close his left eye while sleeping. Overall, these syndromes, though distinct, share a potential common underlying pathophysiology during embryonic development, involving the musculoskeletal and nervous systems. Radiologists play a crucial role in diagnosing both syndromes and may recommend additional imaging or clinical evaluation given their known association.

The majority of defects observed in Poland syndrome are typically mild and pose minimal functional limitations. Cosmetic concerns often drive the decision for

corrective procedures. In cases where there's no significant impact on breathing, chest deformities may not require immediate intervention during early stages of life [30].

Surgical treatment for Poland syndrome commonly involves addressing two main aspects: correcting the thoracic abnormality and addressing any hand anomalies present [31]. The focus of thoracic anomaly surgery is primarily cosmetic, aiming to address the absence of the pectoralis major muscle and axillary fold in male patients, and hypoplasia or aplasia of the breast in female patients. Surgical options include reconstructing the chest wall using myocutaneous flap coverage and performing breast augmentation if necessary. Prior to any reconstructive procedure, it's crucial to assess the condition of the latissimus dorsi muscle, as it is often utilized due to its proximity to the affected area.

This study conducted by Maximilian Mahrhofer et al. aims to provide valuable insights for surgeons in selecting the most suitable treatment options for patients with Poland syndrome, based on their institutional experience [32]. A retrospective analysis was performed on patients with Poland syndrome who underwent treatment for breast and chest wall deformities at a single institution from December 2011 to May 2020. Patient demographics, treatment approaches, and complications were analyzed from medical records. The study proposes a treatment algorithm derived from their institutional experience to assist in choosing appropriate reconstructive options. Results revealed that out of 22 patients (six male, 16 female) treated for Poland syndrome-related deformities, various reconstructive techniques were employed. Nine patients underwent microsurgical free flap reconstruction (three using Deep Inferior Epigastric Perforator flaps, six using Transverse Myocutaneous Gracilis flaps), two received reconstruction with a local flap (Latissimus dorsi flaps), nine underwent implant-based reconstruction, and two received autologous free fat transfer alone (with 17 receiving it in combination with other surgical methods). The study concludes that free flap reconstruction with the TMG flap is suitable for patients with a low Body Mass Index (BMI), while Deep Inferior Epigastric Perforator flaps may be preferable for those with a higher BMI. Autologous free fat transfer is identified as a safe and effective treatment option for mild cases of Poland syndrome, either alone or in combination with implant-based reconstruction. The authors emphasize the need for multicenter studies to gather more data on this rare condition, enabling better clinical decision-making.

The objective of the study conducted by Marta Fijalkowska et al. was to assess the surgical interventions carried out in patients diagnosed with Poland syndrome at the Plastic, Reconstructive, and Aesthetic Surgery Clinic [33]. A retrospective analysis was conducted on the surgical treatments administered to a cohort of 66 patients diagnosed with Poland syndrome, based on their medical records. The most frequent procedure performed in female patients was breast reconstruction using silicone implants, while two male patients underwent chest symmetry procedures through fat grafting. Syndactyly, a common feature in patients with complete Poland syndrome, was surgically addressed during early childhood. Given the variableclinical presentation, the treatment approach for Poland syndrome is individualized and influenced by factors such as age, gender, and the extent of deformity. Surgical interventions in children with complete Poland syndrome typically involve the removal of syndactyly. Breast reconstruction using silicone implants in women with Poland syndrome is a well-established and safe procedure, typically performed after reaching 18 years of age.

Surgical treatment for Poland syndrome involves various strategies tailored to individual patients. In adolescent females, breast development should be considered before reconstruction to avoid asymmetry. Temporary expanders can be placed subcutaneously to match breast growth, followed by implant or latissimus muscle reconstruction after completion of development. The latissimus muscle can correct chest wall defects and provide coverage for implants, with nipple and areolar reconstruction as needed. If the latissimus is absent, alternative flaps or customized prosthetic implants may be considered. In males with intact latissimus muscle, reconstruction can be performed around age 12-13. Overall, surgical approaches aim to achieve symmetry and aesthetic results while addressing functional deficits [34].

Between 1955 and 1988, Robert C. Shamberger and colleagues conducted a study involving 75 patients diagnosed with Poland's syndrome, consisting of 40 males and 35 females [35]. The analysis excluded patients with isolated defects in the pectoral muscles, breast, or hand. The study revealed a predominance of rightsided involvement (44 patients), followed by left-sided (30 patients), with one case of bilateral presentation. Notably, all patients exhibited absence of the pectoralis minor and costal portion of the pectoralis major muscles. Hand anomalies were noted in 50 patients, while 37 patients had athelia and/or amastia. Ten patients required reconstruction for rib cage deformities, with rib or cartilage grafts utilized in three cases for comprehensive repair. A significant finding was the sternum rotation towards the affected side and contralateral carinate deformity, corrected through bilateral subperichondrial costal cartilage resection and sternal osteotomy in seven out of ten patients. This procedure facilitated anterior displacement and orthorotation of the sternum without encountering intraoperative or postoperative complications. Treatment for absent pectoral muscles was generally unnecessary in males without rib cage deformities, except in two cases where rotation of the latissimus dorsi muscle was performed. However, all females required ipsilateral breast reconstruction upon full development. Challenges for ideal breast reconstruction were posed by uncorrected underlying chest wall deformities, yet correction of sternal, rib, and cartilage deformities provided a satisfactory foundation for subsequent breast augmentation.

Alan E. Seyfer et al. conducted a study involving 63 patients diagnosed with Poland syndrome, who were categorized into two treatment groups based on chest wall anatomy and gender [36]. Surgical interventions were determined based on this classification. Over a span of 30 years, the author performed a total of 76 operations, with long-term outcomes documented. Various corrective techniques were employed, including custom-made chest wall prostheses, mammary prostheses, latissimus dorsi muscle transfers, transverse rectus abdominis musculocutaneous flaps, sternal/rib reconstruction, or combinations thereof. Follow-up assessments were conducted over a period ranging from 1 to 21 years. The study delineated two anatomical variations of Poland syndrome, each necessitating distinct surgical approaches. The simpler deformity was effectively addressed through a latissimus dorsi muscle transfer combined with a sublatissimus mammary prosthesis in female patients. In cases of complex deformity, additional musculoskeletal chest wall realignment was selectively incorporated alongside the latissimus transfer. Notably, the use of custom-made chest wall prostheses was associated with a heightened risk of complications. In conclusion, Poland syndrome of the chest wall manifests in two distinct forms: the more prevalent simple variety and a complex form, originally described by Poland. Surgical repair of the chest wall can be precisely tailored to accommodate these anatomical variations, taking into consideration gender and patient preferences.

Conclusions

Poland syndrome remains a complex and rare congenital anomaly that presents challenges for both patients and medical professionals. Our comprehensive overview of the clinical features, causes, diagnostic methods, and treatment options sheds light on the multifaceted nature of this condition.

Firstly, the clinical manifestations of Poland syndrome can vary widely in severity and combination among affected individuals, with features such as chest muscle underdevelopment or absence, hand anomalies, rib anomalies, breast abnormalities, shoulder and arm abnormalities, and facial asymmetry. The severity of these manifestations is often categorized using grading systems, allowing for better understanding and management of the condition.

Secondly, while the exact causes of Poland syndrome remain elusive, various theories have been proposed, including vascular disruption during embryonic development and potential genetic factors. Maternal smoking and cocaine abuse during pregnancy have been suggested as possible contributors, although further research is needed to fully elucidate their role.

Thirdly, accurate diagnosis of Poland syndrome involves clinical examination, radiography, ultrasound, CT scans, MRI, and genetic testing, along with consultation with specialists. These diagnostic modalities help in confirming the presence of characteristic features and guiding treatment decisions.

Lastly, surgical intervention plays a crucial role in managing Poland syndrome, with procedures aimed at correcting thoracic abnormalities, addressing hand anomalies, and achieving aesthetic symmetry. Treatment approaches are individualized based on the patient's gender, age, anatomical variations, and preferences, with the goal of improving both functional and cosmetic outcomes.

Prospects for further research

Further research on Poland syndrome should focus on:

Genetic studies to identify specific mutations associated with the syndrome.

Investigating environmental and maternal factors that may contribute to its development.

Understanding embryonic developmental pathways involved in the condition.

Developing more accurate clinical classification systems to guide personalized treatment.

Evaluating surgical techniques and long-term outcomes for improved patient care.

Conflict of interest

The authors declare no conflict of interest.

Sources of funding

None

Contribution of the authors

All authors made significant contributions to the original and revised versions of this paper.

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