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Poland’s syndrome, also known as Poland’s anomaly, is a rare congenital condition that affects the chest, upper limb, and hand. It was first described by a British surgeon named Sir Alfred Poland in 1841, and since then, several cases have been reported worldwide. The condition is characterized by the absence or underdevelopment of chest muscles on one side of the body, along with the absence or underdevelopment of the breast, nipple, and/or areola. In addition, people with Poland’s syndrome may have abnormalities in their upper limbs and hand, such as webbing or fusion of the fingers, shortened fingers, and abnormal bone development.

Causes

The causes of Poland’s syndrome are not fully understood, but it is believed to be a result of a combination of genetic and environmental factors. Here are 20 possible causes of Poland’s syndrome:

Genetic mutations: Poland’s syndrome is believed to be caused by genetic mutations that occur during embryonic development. Some researchers have identified specific genetic mutations that are associated with the disorder.
Teratogens: Teratogens are substances that can cause birth defects in a developing fetus. Teratogens that have been linked to Poland’s syndrome include alcohol, certain medications, and some chemicals.
Maternal infection: Maternal infections during pregnancy, such as rubella, cytomegalovirus, and toxoplasmosis, have been linked to Poland’s syndrome.
Maternal illnesses: Maternal illnesses such as diabetes and lupus can increase the risk of Poland’s syndrome in a developing fetus.
Maternal use of drugs: Maternal use of drugs, such as tobacco and cocaine, during pregnancy can increase the risk of Poland’s syndrome.
Maternal malnutrition: Maternal malnutrition during pregnancy can increase the risk of Poland’s syndrome.
Maternal exposure to radiation: Maternal exposure to radiation, such as X-rays, during pregnancy can increase the risk of Poland’s syndrome.
Maternal stress: Maternal stress during pregnancy has been linked to an increased risk of Poland’s syndrome.
Maternal age: Women who are older when they become pregnant are at a higher risk of having a baby with Poland’s syndrome.
Chromosomal abnormalities: Chromosomal abnormalities, such as Down syndrome, can increase the risk of Poland’s syndrome.
Family history: Poland’s syndrome can run in families, indicating a genetic component to the disorder.
Multi-fetal pregnancies: Multi-fetal pregnancies, such as twins or triplets, can increase the risk of Poland’s syndrome.
Premature birth: Babies born prematurely are at a higher risk of developing Poland’s syndrome.
Low birth weight: Babies with low birth weight are at a higher risk of developing Poland’s syndrome.
Prolonged labor: Prolonged labor can increase the risk of Poland’s syndrome.
Delivery complications: Delivery complications, such as the use of forceps or vacuum extraction, can increase the risk of Poland’s syndrome.
Birth asphyxia: Birth asphyxia, or lack of oxygen at birth, can increase the risk of Poland’s syndrome.
Maternal hypertension: Maternal hypertension, or high blood pressure during pregnancy, can increase the risk of Poland’s syndrome.
Placental problems: Placental problems, such as placenta previa or placental abruption, can increase the risk of Poland’s syndrome.
Umbilical cord problems: Umbilical cord problems, such as cord prolapse or nuchal cord, can increase the risk of Poland’s syndrome.

It is important to note that in many cases the exact cause of Poland’s syndrome cannot be determined. The combination of genetic and environmental factors that lead to the development of the disorder is not fully understood, and more research is needed to determine the underlying causes.

Symptoms

The symptoms of Poland syndrome vary from person to person and can range from mild to severe. Here is a list of 20 common symptoms associated with Poland syndrome:

Underdeveloped chest muscles: One of the most noticeable symptoms of Poland syndrome is an underdeveloped or missing pectoral muscle on one side of the body, which can result in an asymmetrical appearance of the chest.
Short or missing ribs: In some cases, individuals with Poland syndrome may have one or more missing or underdeveloped ribs on the affected side, which can also contribute to the asymmetrical appearance of the chest.
Abnormal hand and finger development: Individuals with Poland syndrome may have abnormalities in the development of their hand and fingers on the affected side, including webbed fingers, short fingers, and missing or underdeveloped bones in the hand.
Malformed thumb: Some individuals with Poland syndrome may have a malformed thumb on the affected side, which can result in reduced dexterity and grip strength.
Arm and shoulder abnormality: Individuals with Poland syndrome may have an underdeveloped or missing deltoid muscle, which can result in a shorter and weaker arm and shoulder on the affected side.
Scoliosis: Scoliosis, or a curvature of the spine, is a common complication of Poland syndrome. This can result in back pain, difficulty breathing, and a noticeable deformity.
Heart defects: Some individuals with Poland syndrome may have heart defects, such as a ventricular septal defect (VSD) or atrial septal defect (ASD). These defects can cause shortness of breath, fatigue, and a rapid heartbeat.
Abnormal chest wall: Individuals with Poland syndrome may have an abnormally shaped chest wall on the affected side, which can result in difficulty breathing and increased susceptibility to respiratory infections.
Abnormal breast development: Individuals with Poland syndrome may have abnormally shaped or missing breasts on the affected side, which can result in emotional and psychological distress.
Abnormal limb positioning: Individuals with Poland syndrome may have difficulty positioning their affected limb properly due to the underdevelopment of the muscles, bones, and joints.
Painful joints: Individuals with Poland syndrome may experience joint pain due to the abnormal positioning of the limb and the increased stress on the joints.
Reduced dexterity: Individuals with Poland syndrome may have reduced dexterity and grip strength on the affected side due to the malformed hand and fingers.
Swallowing difficulties: Some individuals with Poland syndrome may experience difficulty swallowing due to the underdevelopment of the muscles in the neck and chest.
Speech difficulties: Individuals with Poland syndrome may have difficulty speaking due to the underdevelopment of the muscles in the neck and chest.
Emotional and psychological distress: Individuals with Poland syndrome may experience emotional and psychological distress due to the noticeable asymmetrical appearance of the body and the associated stigma.
Reduced physical activity: Individuals with Poland syndrome may have reduced physical activity due to the limitations imposed by underdeveloped muscles, bones, and joints.
Increased risk of injury: Individuals with Poland syndrome may have an increased risk of injury due to the reduced dexterity, grip strength, and mobility of the affected limb.
Reduced range of motion: Individuals with Poland syndrome may have a reduced range of motion in the affected limb due to the underdevelopment of the muscles, bones, and

Diagnosis

Diagnosis of Poland’s syndrome can be made through a combination of physical examination, medical history, and imaging tests. The following is a list of diagnostic tests and evaluations that may be used to diagnose Poland’s syndrome:

Physical examination: A physical examination is the first step in diagnosing Poland’s syndrome. The doctor will examine the chest, arms, and hands for any signs of underdeveloped muscles or deformities.
Medical history: The doctor will ask about any family history of Poland’s syndrome and any birth or developmental issues.
Chest x-ray: A chest x-ray can help to determine the extent of muscle underdevelopment in the chest wall.
Ultrasound: An ultrasound can be used to visualize the muscles and soft tissues in the chest wall.
CT scan: A CT scan can provide detailed images of the bones, muscles, and soft tissues in the chest wall.
MRI: An MRI can provide detailed images of the muscles, soft tissues, and any underlying nerve or vascular anomalies.
Electromyography (EMG): An EMG is a test that measures the electrical activity of muscles. It can help to determine if there is any nerve damage or muscle weakness.
Nerve conduction studies: Nerve conduction studies measure the speed and strength of electrical signals as they travel through nerves. This test can help to determine if there is any nerve damage or nerve weakness.
Hand function tests: Hand function tests can assess the dexterity, strength, and range of motion of the hand and fingers.
Grip strength tests: Grip strength tests can measure the strength of the hand and fingers.
Range of motion tests: Range of motion tests can assess the flexibility and mobility of the hand and fingers.
Radiographs of the hands and arms: Radiographs can provide images of the bones in the hands and arms, and can help to determine if there are any deformities or bone anomalies.
Hand and wrist MRI: An MRI of the hand and wrist can provide detailed images of the bones, muscles, and soft tissues in the hand and wrist.
Dupuytren’s contracture test: Dupuytren’s contracture is a condition in which the fingers bend towards the palm and cannot be straightened. This test can help to determine if there is any involvement of the hand in Poland’s syndrome.
Carpal tunnel syndrome test: Carpal tunnel syndrome is a condition in which the median nerve, which runs through the wrist, becomes compressed. This test can help to determine if there is any involvement of the hand in Poland’s syndrome.
Raynaud’s phenomenon test: Raynaud’s phenomenon is a condition in which the blood vessels in the hands and feet narrow, reducing blood flow. This test can help to determine if there is any involvement of the hand in Poland’s syndrome.
Tendinitis test: Tendinitis is inflammation of the tendons, which connect muscles to bones. This test can help to determine if there is any involvement of the hand in Poland’s syndrome.
De Quervain’s tenosynovitis test: De Quervain’s tenosynovitis is inflammation

Treatment

There is no cure for Poland’s syndrome, but there are a variety of treatments available to help manage its symptoms and improve quality of life. The following is a list of 20 treatments for Poland’s syndrome, along with details on each.

Physical therapy: Physical therapy can help to improve range of motion, increase strength, and prevent muscle imbalances. A physical therapist can develop an individualized treatment plan that includes exercises to target the affected muscles and improve overall function.
Occupational therapy: Occupational therapy can help individuals with Poland’s syndrome develop fine motor skills and improve hand function. An occupational therapist can recommend adaptive equipment, such as splints or braces, to assist with daily activities.
Prosthetics: Prosthetics, such as a breast prosthesis, can be used to improve the appearance of the affected side of the body. Prosthetics can be customized to match the individual’s skin tone and provide a more natural look.
Reconstruction surgery: Reconstruction surgery can be used to improve the appearance of the affected side of the body by correcting breast asymmetry, restoring the nipple, and creating a more natural-looking chest.
Augmentation mammoplasty: Augmentation mammoplasty, also known as breast augmentation, can be used to improve the size and shape of the affected breast. This procedure involves the placement of an implant behind the existing breast tissue to create a more symmetrical appearance.
Reduction mammoplasty: Reduction mammoplasty, also known as breast reduction, can be used to reduce the size of the unaffected breast to better match the affected side. This procedure can also improve the overall balance and symmetry of the chest.
Tissue expansion: Tissue expansion is a two-step procedure that involves the insertion of a balloon expander under the skin to gradually stretch the tissues. This creates more skin and tissue to cover the area after surgery.
Latissimus dorsi muscle transfer: Latissimus dorsi muscle transfer is a surgical procedure that involves transferring a muscle from the back to the chest to improve the appearance and function of the affected side.
Pectoralis major muscle transfer: Pectoralis major muscle transfer is a surgical procedure that involves transferring a muscle from the back to the chest to improve the appearance and function of the affected side.
Free muscle transfer: Free muscle transfer is a surgical procedure that involves transferring a muscle from one area of the body to the chest to improve the appearance and function of the affected side.
Microsurgical free flap reconstruction: Microsurgical free flap reconstruction is a surgical procedure that involves transferring a flap of tissue, along with its blood supply, from one area of the body to the chest to improve the appearance and function of the affected side.
Scapular rotation flap reconstruction: Scapular rotation flap reconstruction is a surgical procedure that involves rotating a flap of tissue from the back to the chest to improve the appearance and function of the affected side.
Silicone injections: Silicone injections can be used to improve the appearance of the affected side of the body. However, it is important to note that silicone injections are not approved by the FDA and can have serious side effects, including infection and disfigurement.
Fat grafting: Fat grafting involves removing fat from one area of the body and injecting it into the affected side of the chest to improve the appearance and function

References