Poland syndrome

Poland syndrome is a rare congenital disorder characterized by an underdeveloped or missing chest muscle on one side of the body, typically affecting the sternocostal head of the pectoralis major muscle [3]. This condition can also be associated with other features such as:

• Ipsilateral breast and nipple hypoplasia and/or aplasia (underdeveloped or absent breast tissue) [4]
• Absence of the breastbone portion (sternal) of the chest wall
• Webbed fingers on one side of the body [5]

The major feature of Poland syndrome is complete or partial agenesis (absence) of the pectoralis major muscle, manifesting as an asymmetric chest appearance [7]. This condition can also be associated with hand abnormalities and other congenital anomalies.

Poland syndrome is a birth defect that affects both males and females, although it is more common in males. The exact cause of this condition is unknown, but it is believed to be related to genetic factors or environmental influences during fetal development [8].

References: [3] by D Tafti · 2023 · Cited by 14 [4] Jul 19, 2022 [5] Jul 14, 2024 [7] The major feature of Poland syndrome (PS) is complete or partial (sternocostal head) agenesis of the pectoralis major muscle, manifesting as an asymmetric ... [8] by AA Fokin · 2002 · Cited by 399

Poland Syndrome, also known as Poland sequence, is a rare congenital condition characterized by the underdevelopment or absence of muscles on one side of the body.

Common signs and symptoms include:

• Absence or underdevelopment of chest muscles (pectoralis major) on one side of the body [1][2]
• Asymmetrical body frame due to uneven muscle development [3][5]
• Abnormalities in the arm, such as brachydactyly (short fingers) or webbed fingers [4][7]
• Absence or underdevelopment of the breast on the affected side [6][8]

In some cases, Poland Syndrome can also be associated with other anomalies, including:

• Abnormalities of the lung or kidney on the affected side
• Excavatum deformities (sunken chest)
• Rib aplasia (absence of ribs)

It's essential to note that the severity and presentation of Poland Syndrome can vary greatly from person to person. Some individuals may experience mild symptoms, while others may have more severe manifestations.

References: [1] Jun 30, 2015 — Poland Syndrome is a rare condition that is evident at birth (congenital). Associated features may be extremely variable from case to case. [2] Apr 1, 2016 — Poland syndrome is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, ... [3] Jul 14, 2024 — Poland Syndrome Symptoms. Poland syndrome can be considered mild, moderate, or severe. Mild signs. These include the absence of the nipple or ... [4] May 19, 2020 — Common symptoms of Poland syndrome include the partial or complete absence of chest muscles and tissue, as well as abnormalities of the arms, ... [5] Jun 15, 2017 — Symptoms of Poland syndrome​​ People who have Poland syndrome have an asymmetrical body frame. Their chest muscle lacks development on one side ... [6] May 28, 2024 — Signs and symptoms of Poland syndrome commonly include absent (i.e., aplasia) or underdeveloped (i.e., hypoplasia) chest muscles on one side of ... [7] Jul 14, 2024 — Poland Syndrome Symptoms. Poland syndrome can be considered mild, moderate, or severe. Mild signs. These include the absence of the nipple or ... [8] by D Tafti · 2023 · Cited by 14 — Other anomalies include the absence or hypoplasia of the ipsilateral breast, excavatum deformities, and rib aplasia. Defects are overwhelmingly unilateral and ...

Poland Syndrome can be diagnosed through various diagnostic tests, which are essential for confirming the condition and ruling out other potential causes.

Imaging Tests

• CT Scans: CT scans are often used to diagnose Poland Syndrome, especially in cases where the condition is suspected due to an incidentally noted absent pectoralis muscle on a CT scan [2].
• MRIs: MRIs are also commonly used to diagnose Poland Syndrome, particularly for evaluating the extent of muscle and chest wall involvement [3].
• X-rays: X-rays may be used to confirm the diagnosis by showing the absence or underdevelopment of muscles on one side of the body [5].

Clinical Evaluation

• A physical exam is crucial in diagnosing Poland Syndrome. The pectoral muscle anomaly can be observed by asking the patient to push the palms of their hands against each other, which may reveal asymmetry [4].
• Clinical evaluation involves a thorough examination of the affected area, including the muscles, chest wall, and any associated features.

Other Diagnostic Tests

• Ultrasound (US): Ultrasound is often used as the first-line diagnostic imaging method to support or confirm the clinical diagnosis of Poland Syndrome due to its ease of use [7].
• Advanced MRI techniques: Advanced MRI techniques may be employed to further evaluate the extent of muscle and chest wall involvement in Poland Syndrome [8].

Additional Tests

• In some cases, additional tests such as examination of lymph nodes and a complete blood cell count may be performed to assist with evaluation for associated leukemia and non-Hodgkin lymphoma [9].

It's essential to note that while these diagnostic tests can help confirm the diagnosis of Poland Syndrome, there is no definitive solution to treat the condition. However, surgical intervention and other treatments may be considered on a case-by-case basis [6].

Treatment Options for Poland Syndrome

Poland syndrome, a rare congenital disorder, affects individuals born with missing or underdeveloped muscles on one side of the body. While there is no specific drug treatment for Poland syndrome, various therapies and surgical interventions are available to manage its symptoms.

• Surgical Intervention: Reconstructive surgery is the most common treatment option for Poland syndrome. This involves using existing chest wall muscles (or transplanting muscle from another area) to rebuild the chest wall [3][4]. The surgery may also include breast reconstruction, which can be combined with other procedures to restore symmetry and balance to the affected side.
• Physical and Occupational Therapy: After surgical intervention, physical and occupational therapy are essential for rehabilitation. These therapies help improve mobility, strength, and range of motion in the affected area [2].
• Other Therapies: In some cases, implants or injections may be used to fill out the underdeveloped chest area [9]. However, these treatments are typically considered secondary to surgical intervention.

Current Research and Recommendations

Recent studies suggest that reconstructive surgery is the most viable treatment option for Poland syndrome. The optimal treatment approach often involves a multidisciplinary team of healthcare professionals, including surgeons, physical therapists, and occupational therapists [7].

While there is no specific drug treatment available for Poland syndrome, ongoing research aims to improve surgical techniques and rehabilitation protocols. As new studies emerge, it's essential to consult with a qualified healthcare professional for personalized guidance on managing this condition.

References:

[1] NORD rare disease drug development ad (2015) [2] D Tafti et al. (2023) - Outline the treatment and management options available for Poland syndrome. [3] Jun 15, 2017 - Reconstructive (plastic) surgery is the most viable treatment option for Poland syndrome. [4] Jul 14, 2024 - Reconstructive surgery is the most common treatment for Poland syndrome. [5] Apr 1, 2016 - Poland syndrome is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body... [6] Jul 19, 2022 - Poland Syndrome Treatment & Management: Surgical Therapy, Intraoperative Details, Postoperative Details. [7] Optimal Treatment for Poland's Syndrome (WakeMed Chest Wall Deformity Center) [8] May 19, 2020 - A surgeon may combine breast surgery with surgery to reconstruct the chest wall. [9] It may include: implants or injections to fill out the underdeveloped chest area.

Poland Syndrome, a rare congenital condition, requires careful differential diagnosis to rule out other conditions that may present similar symptoms.

• Ectrodactyly is the most common differential diagnosis for Poland Syndrome, particularly when considering upper limb involvement [2].
• Moebius syndrome and Hanhart syndrome are also considered in the differential diagnosis of Poland Syndrome, as they can exhibit similar characteristics such as facial paralysis and hand abnormalities [8].

Differential diagnosis of Poland syndrome in female patients includes normal breast asymmetry [1]. Further evaluation with imaging studies or other diagnostic tests may be necessary to confirm the diagnosis.

The pattern of upper limb involvement in PS is a crucial factor in differential diagnosis, as it can help distinguish between Poland Syndrome and other conditions such as ectrodactyly [2].

In some cases, chest radiographs may show a unilateral hyperlucent hemithorax, which should prompt consideration of Poland syndrome among other potential causes [7].