Poland syndrome

A rare anomaly of intrauterine formation of body structure, which mainly consists of hypoplasia of the sternal and costal part of the pectoralis major muscle or its complete absence. It bears the name of an English surgeon who described a specimen with a costal-muscular defect that he came across while working part-time in a morgue while still a student. A. Poland was not the first; before him, individual cases had already attracted attention in France and Germany at the beginning of the 19th century, but it was his publication that marked the beginning of a serious study of this congenital pathology. On the threshold of the 20th century, J. Thompson published a full description of this disease. Since then, about 500 such cases have been described in world medical literature.

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Epidemiology

Statistics of morbidity show that congenital costal-muscular anomalies, expressed to varying degrees, occur on average in one newborn out of 30 thousand or slightly more children born alive. Boys are born with such developmental defects more often.

Up to 80% of deformities in Poland syndrome are right-sided. The disorders are expressed to varying degrees, and there is no correspondence between the severity of the anomalies in the formation of the chest and hand.

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Causes Poland syndrome

The causes of birth of children with this anomaly remain hypothetical to date. The type of inheritance and the gene transmitting this pathology have not been determined, but there are descriptions of rare family histories with Poland syndrome. Recessive inheritance is assumed. It is believed that the probability of transmitting the disease from a sick parent to their children is approximately 50%. Most cases are solitary. Risk factors for the birth of children with this anomaly are external and internal teratogenic effects on the embryo during the period of laying and development of organs and systems. There are several hypotheses explaining the etiology and pathogenesis of this costal-muscular defect, but none of them has been fully confirmed. The most likely assumption is that some unfavorable factor provokes insufficiency of the embryonic blood supply in the sixth week of pregnancy, when the subclavian artery is formed. This causes its underdevelopment (narrowing of the lumen) and insufficient blood supply, which leads to local hypoplasia of soft tissues and bones. The extent of the lesion is determined by the degree of damage to the artery and / or its branches.

The reasons also include a disruption in the migration of cells of the embryo's thoracic rib-muscle tissues or their intrauterine trauma. However, none of these hypotheses has sufficient reliable evidence to date.

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Symptoms Poland syndrome

The first signs of this congenital anomaly are visually noticeable already in infancy by the characteristic appearance of the pectoral muscle and armpit. And in the presence of hand hypoplasia - from birth.

The symptom complex of the syndrome is as follows:

• unilateral insufficient development of the pectoralis major muscle or its fragments, most often the sternal and costal;
• on the same side – hand hypoplasia: shortened, fused fingers or its aplasia; insufficient development of the mammary gland or its absence, atelia; thinning of the subcutaneous fat layer; absence of axillary hair; anomalies in the structure of the cartilaginous/bony costal tissue or their complete absence (usually III and IV).

The presence of all the signs described in the second part is not mandatory; they can be combined with the first in a variety of ways.

In addition to those listed, extremely rare abnormalities in the structure of the latissimus dorsi muscle may occur, causing asymmetry of the torso, hypoplasia or aplasia of the pectoralis minor muscle, abnormal development of the scapula and clavicle, a funnel chest, curvature of the spine and a costal hump.

With the left defective side, transposition of internal organs is often observed, in particular, the heart is displaced to the right. With a normal location of the heart in combination with the absence of ribs, it is practically unprotected and its beating is noticeable under the skin.

Poland syndrome in children is usually noticeable from birth, but in some cases minor defects are not detected until about three years of age.

According to localization, defects in the structural elements of the chest are divided into deformations of the anterior, posterior and lateral walls.

Poland syndrome in girls during puberty, even in its mildest form, makes itself known by the fact that the breast on the defective side does not form or lags behind in development and is located noticeably higher than on the normal side. In mild cases of the disease in boys, the syndrome is sometimes detected quite late, in adolescence, when it is not possible to “pump up” the muscle on the defective side.

Poland syndrome in women does not affect hormonal levels or the ability to conceive a child.

In most cases, Poland syndrome is a cosmetic defect: most often, the pectoral muscle is deformed or absent, there is no chest defect, and a fully functional hand is present. The motor functions of the upper limb are preserved, and nothing prevents such patients from intensively engaging in sports.

However, there are other, more traumatic types of this pathology. The consequences and complications of such cases are somewhat more serious. Depending on the severity of the deformations, the patient may develop respiratory and hemodynamic disorders. In cases of complete absence of the costochondral framework, a pulmonary hernia is usually detected, and respiratory disorders manifest themselves from birth.

In rarer cases of left-sided pathologies in combination with the absence of ribs with normal organ disposition, the heart is located directly under the skin. The life of such a patient is constantly threatened by danger associated with possible trauma and cardiac arrest.

A child with a pronounced chest defect usually has problems with hemodynamics due to decreased systolic and increased diastolic arterial pressure in combination with increased venous pressure. Such children are characterized by increased fatigue, asthenic syndrome, they may lag behind their peers in physical development.

Manifestations of Poland syndrome also concern the structure of the subclavian artery and/or its branches, which creates conditions for disruption of arterial blood flow on the side of the defect.

Some anatomical anomalies of the structure and placement of vital internal organs are observed. The degree of their expression can significantly complicate the patient's condition. This is a deviation of the heart from the normal position in one direction or another up to transposition, expansion of its borders or clockwise rotation, hypoplasia of the lung and kidney on the defective side.

Stages

Four stages of chest formation can be distinguished in this disease.

The first is typical for most known cases, when only soft tissues are abnormally developed, and the shape of the chest and the structure of the cartilaginous and bony parts of the ribs are normal.

The second is when the deformations affect the chest: the defective side, with the bone and cartilaginous parts of the ribs preserved, is slightly depressed in the area of the costal cartilages, the sternum is turned half-sideways, and on the opposite side, a protruding (keel-shaped) part of the chest is often observed.

At the third stage, the structure of the bone part of the ribs is preserved, but the cartilaginous part is underdeveloped, the chest is asymmetrical, the sternum is beveled towards the deformation, but no gross anomalies are detected.

The fourth stage is characterized by the absence of the cartilaginous and bony part of the ribs from one to four (from III to VI). On the defective side, in place of the missing ribs, there is a depression, the sternum is noticeably turned.

However, at any stage of formation of the elements of the chest structure, the state of the child's body can be normal (compensated), with periodic improvements (subcompensated) and with increasing deterioration in the functioning of the internal organs and skeletal system (decompensated). This depends on the individual characteristics of the body, the rate of development, comorbidity and lifestyle.

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Diagnostics Poland syndrome

Congenital costal-muscular pathology is determined visually, the doctor palpates the patient and prescribes an X-ray. This is usually enough to identify the degree and type of chest damage. A more accurate picture of the disease can be given by computed tomography and magnetic resonance imaging.

An ultrasound examination of the subclavian artery is also prescribed to determine its diameter, an ultrasound examination of the brain and other instrumental diagnostics as indicated.

To assess concomitant anatomical defects, a consultation with a cardiologist and electrocardiography, ultrasound examination of the heart, bicycle ergometry, echocardiography and Dopplerography of the main vessels are necessary.

In case of respiratory disorders, a consultation with a pulmonologist is required, who can prescribe a study of the functional state of the lungs, for example, spirography.

Test results for this disease are usually within normal limits, provided there are no concomitant pathologies.

Careful diagnostic measures allow for an accurate assessment of the extent of reconstructive interventions.

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Differential diagnosis

Differential diagnosis should exclude developmental defects of the hand without muscle lesions, congenital deformities of the chest, acrocephalosyndactyly, Moebius syndrome, which also affects the upper limb and chest.

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Treatment Poland syndrome

This pathology is subject to surgical treatment. Often, according to indications, it begins in early childhood. Sometimes several surgical interventions may be required, for example, in case of a pronounced defect of the chest or costal aplasia, to ensure the safety of the heart or normalize the respiratory system. Such operations are performed in thoracic surgery departments. Their goal is to form the best protection of internal organs, ensure their normal functioning, eliminate curvatures of the chest, restore it and recreate the natural anatomical relationship of soft tissues.

The main and most difficult stage of surgical treatment of this syndrome is the elimination of curvature of the skeletal elements of the chest and replacement of missing ribs. Different methods of thoracoplasty are used. In case of right-sided location of the defect and absence of, for example, III and IV ribs, splitting of II and V is done. Deficiency of four ribs is corrected by transplanting part of the ribs taken from the healthy side of the patient's chest. In modern medical practice, preference is given to titanium implants for transplantation of patient tissues.

In preschool children, a dense mesh is placed in the area of the rib defect, protecting the internal organs and not disrupting the further development of the ribs, since rib plastic surgery in children can lead to secondary curvature of the elements of the skeletal chest, caused by the uneven formation of healthy and operated ribs of the child.

Surgical correction of severe curvature of the sternum is performed using wedge sternotomy.

If there is underdevelopment of the hand, surgical assistance is provided by orthopedic traumatologists.

At the first stage of Poland syndrome, the only goal of surgical intervention is to eliminate the cosmetic defect. If there is a defect in the chest muscles, the normal anatomical relationship is restored either by using the patient's muscle tissue (part of the anterior serratus muscle or the rectus abdominis muscle can be used for this purpose) or by using a silicone prosthesis. For men, individual silicone prostheses are more desirable, since muscle transplantation does not provide a full cosmetic effect and instead of one muscle defect, two appear. However, the choice of the surgical method is always determined depending on the specific case.

Women have their latissimus dorsi muscle moved from the back to the front, simultaneously creating a muscular frame and layer. After healing, reconstructive mammoplasty is performed.

These operations are considered clean, drug prophylaxis is prescribed individually taking into account the scope of the operation, the presence of implants, drug tolerance, age and concomitant diseases of the patient. The minimum volume of drug prophylaxis includes preoperative antibiotic therapy (prescribed an hour before the start of the operation and ends no later than a day or two later), pain relief and sedation, restoration of bowel function and drainage of the pleural cavity (if thoracoplasty is performed). The most commonly used in the prevention of bacterial complications are cephalosporin antibiotics of the second and third generations.

Cefuroxime is a broad-spectrum ß-lactam bactericide whose mechanism of action is to interrupt the synthesis of the bacterial cell membrane. It is an antagonist of gram-positive and gram-negative bacterial strains, including those resistant to synthetic penicillins – ampicillin and amoxicillin. After intramuscular administration of 0.75 g of the drug, the maximum serum level is observed after no more than an hour, intravenous – after 15 minutes. The required concentrations are maintained for more than five and eight hours, respectively, and are recorded in bone and soft tissues, and skin. It is completely eliminated within 24 hours. Contraindicated in case of sensitization to other cephalosporins, and with caution in case of allergy to penicillin-type agents.

In case of allergy to cephalosporins, Vancomycin may be prescribed. This drug is used only intravenously by drip over an hour (0.5 g after six hours or 1 g after twelve). For patients with renal dysfunction, the dose is adjusted.

Before prescribing an antibiotic, a sensitivity test is usually performed to avoid complicating the operation. Side effects, except for allergic reactions, can be neglected with short-term prophylaxis.

In the first day after the surgical intervention, pain relief is provided by narcotic analgesics. For example, Promedol, an opioid painkiller that significantly increases the pain threshold, inhibits reactions to irritants, calms and accelerates the process of falling asleep. It is used in the form of injections, subcutaneous and intramuscular. The highest dose is 160 mg per day. The body occasionally reacts to the introduction of this drug with nausea, dizziness, and the development of euphoria.

On the second day after surgery, the narcotic drug is alternated with a non-narcotic drug, then Promedol is prescribed only before bedtime.

In the postoperative period, before the onset of spontaneous defecation, patients are given hypertonic enemas, the consumption of sweets and carbonated water is excluded, Proserin is prescribed, which stimulates the secretory function of the glands of the gastrointestinal tract, as well as sweat and bronchial glands, tones the smooth muscles of the intestine and bladder, as well as skeletal muscles. Contraindicated in sensitization, thyrotoxicosis, severe pathologies of the cardiovascular system. Taken orally half an hour before meals, the daily dose (no more than 50 mg) is divided into two or three doses.

Medicines that improve blood circulation in tissues and their oxygen supply are also prescribed: Riboxin, Solcoseryl, Actovegin - improving metabolic processes, blood microcirculation and healing of postoperative wounds.

To monitor the pleural cavities in the early postoperative period, ultrasound examination is used to perform pleural drainage if blood and transudate are detected there.

After the rib transplant surgery, the patient is observed in the hospital for about 14 days, the recovery period lasts several months. After the surgery, it is recommended to limit physical activity and avoid jolts and blows to the area of the surgical intervention for a year.

Muscle plastic surgery is a less traumatic operation; the patient is usually discharged after two or three days; physical activity must be limited for a month.

Rehabilitation measures should promote rapid detoxification of the body and normalization of metabolic processes, improvement of blood microcirculation and restoration of tissues in the area of the operation. Patients are prescribed vitamins (C, A, E, group B, D3, calcium, zinc) that promote healing of the skin, soft tissues and bones, strengthening the immune system and improving the general condition of the body. In hospital, vitamins are administered intramuscularly and orally; upon discharge, the doctor may recommend taking vitamin and mineral complexes.

After surgical treatment, the circulatory and respiratory systems adapt well to drug-induced sleep. From the first to the tenth day of treatment, patients are recommended breathing exercises, massage and therapeutic exercise.

During the rehabilitation period, physiotherapy treatment is prescribed, aimed at increasing the tone of skeletal and respiratory muscles, developing correct posture and walking: electrophoresis, electro- and magnetic therapy, thermal treatment procedures (therapeutic mud, paraffin, ozokerite), hydrotherapy (swimming, hydromassage, pearl baths).

Alternative treatment

Traditional medicine can help in preparation for surgery and stimulate recovery processes in the body, saturating it with natural rather than synthetic vitamins.

It is useful to consume vitamin and mineral mixtures that strengthen the immune system, improve blood circulation and accelerate the healing of post-operative wounds.

1. Grind in any way 500 g of cranberries, a glass of peeled walnuts, four large apples with green skin, removing the core. Add half a glass of water and 500 g of sugar, put on low heat. Boil, stirring regularly. Store in a jar with a lid. Take several times a day, a tablespoon.
2. Grind in any way equal parts by weight dried apricots, raisins, walnuts, lemons, removing the seeds, but with the peel. Pour honey in the same amount, mix well. Store in the refrigerator in a glass jar with a lid. In the morning, 30 minutes before eating, eat a tablespoon of this mixture.

It is good to drink freshly prepared juices from available vegetables and fruits (in winter - carrot, apple, citrus), they can be mixed, for example, the classic combination is carrot and apple. The course of juice therapy continues for three weeks, 1 week - once a day in the morning before meals half a glass, 2 week - the same amount, but in the morning and before lunch, 3 week - again once a day for half a glass. The course can be repeated, but not earlier than after ten days.

You can brew tea, both black and green, with dried pieces of citrus peel.

You can boost your immunity and improve your blood circulation, especially in winter and spring, when your body is deficient in vitamins, by using an arsenal of herbal treatments. The following herbal mixtures are drunk instead of tea at breakfast after meals.

1. Mix crushed nettle and lemongrass leaves (150 g each) with 50 g of sage. Brew a teaspoon of the herbal mixture in a thermos with 200 ml of boiling water. Strain after two hours, add a teaspoon of honey.
2. Prepare a herbal mixture from chopped celandine herb, strawberry leaves, and chamomile flowers. Brew a tablespoon of the mixture with boiling water (250 ml), strain after 20 minutes.

An infusion of dried red rowan is drunk half a glass four times a day: brew two tablespoons of berries in ½ liter of boiling water, leave for at least a quarter of an hour, strain, you can add honey.

Homeopathy is a conservative treatment method and is unlikely to help correct congenital deformities, but homeopathic preparations are quite capable of preparing for surgery or activating the recovery process. Arsenicum album, Arnica, Mancinella promote wound healing, Calcarea fluorica and Calcarea phosphorica promote bone fusion. It should be noted that homeopathic preparations should be prescribed by a homeopathic physician.

The homeopathic drug Traumeel S can be used in the postoperative period, taking advantage of its high restorative qualities. The effectiveness of the drug is due to its ability to activate the chain of reactions of the immune system, stimulating the clone of Th3 lymphocytes. As a result, the balance of pro- and anti-inflammatory cytokines at the site of surgery is normalized, which helps eliminate edema, pain, hyperemia. Restores impaired blood microcirculation and tissue functions.

Injections are given intramuscularly and intradermally, under the skin, using the method of biopuncture and homeosiniatry. The daily dosage for patients aged six and above is 2.2 ml, for those under six years old – no more than 0.55 ml. In severe cases, adults can be given two ampoules during the day.

When the condition improves, switch to the tablet form of the drug (sublingually): patients from three years of age can be prescribed one tablet three times, 0-2 years - half a tablet three times. To relieve acute conditions, the tablets are dissolved at intervals of a quarter of an hour. This procedure can be carried out for two hours (no more than eight times).

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Prevention

There are no specific measures to prevent this congenital disease. A healthy lifestyle of both parents and a responsible attitude towards procreation significantly increases the likelihood of having healthy children.

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Forecast

Most cases of this congenital defect of body structure are reduced to muscular underdevelopment, which does not affect the functioning of the limb and internal organs, fertility in women and is a removable cosmetic defect. Even with more complex combined lesions, timely treatment guarantees the patient the opportunity to lead a fully fulfilling life.