// Costomuscular defect (Poland syndrome)

Costomuscular defect (Poland syndrome)

Poland syndrome, or costomuscular defect, is a genetically determined complex of developmental defects, including the absence of the pectoralis major and/or minor muscles, partial or complete fusion of the fingers (syndactyly), their shortening (brachydactyly), absence of the nipple (ately ) and/or the mammary gland itself (amastia), deformation or absence of several ribs, a decrease in the thickness of the subcutaneous fat layer and lack of hair in the armpit area.

This birth defect occurs twice as often on the right side. If the left side of the chest is affected, organ transposition often occurs.

The skin on the affected side may be too thin, without fatty tissue. Very rarely, there may be a defect in the development of the scapula or forearm bones on the affected side. In some cases, congenital defects of the kidney and spine have been described in patients with Poland syndrome. Mental development does not suffer with this syndrome.

The individual components of this syndrome were first described by Lallemand (1826) and Frorier (1839), but it was named after Alfred Poland, an English medical student who in 1841 gave a partial description of this deformity. A complete description of the costomuscular defect was published by Thompson 54 years later, in 1895.

In the vast majority of cases (about 80%), Poland syndrome is right-sided. The left-sided variant is sometimes associated with a reverse arrangement of internal organs, ranging from dextracardia, when only the heart is localized on the right, and up to the full form of the reverse (mirror) arrangement of internal organs. Deformation of the chest in this case varies from mild hypoplasia to congenital absence (aplasia) of costal cartilages or even entire ribs on the side corresponding to the lesion.

In the diagnosis of Poland syndrome, X-ray diagnostic methods are used, as well as computed tomography and magnetic resonance imaging. An ultrasound may also be performed. These methods help assess the presence of changes in the anatomy of internal organs and the affected area, which is necessary for surgeons to perform reconstructive interventions.

Treatment of Poland syndrome is surgical and is aimed, firstly, at eliminating the rib defect and restoring the integrity of the bone frame, secondly, it should eliminate the existing retraction inside the half of the chest, and, thirdly, create normal anatomical relationships of soft tissues, including nipple modeling, breast prosthetics in women and muscle plastic surgery in men.

The result of the first stage of surgical correction of Poland syndrome

(elimination of pectus excavatum)

An 18-year-old man with grade 2 VDHA, asymmetrical shape, aplasia of the pectoral muscles and mammary gland (right).

Photos before surgery and results 7 months after surgery

One year after surgery, a pectoral implant is planned to be installed (right)

Funnel chest plastic surgery was performed by Dr. med. Rudakov S.S. and Ph.D. Korolev P.A.

Technically, these are very complex operations that are performed at an early age. As a rule, a whole series of interventions is performed, since it is almost impossible to obtain a good result at once - this is usually associated with an unjustified increase in the duration of the intervention and an increase in its traumatic nature.

According to the plan, the bone deformity is first eliminated and the rib defect is replaced, and only then the transition to the next stages is carried out. Sometimes, in severe cases, autologous rib transplantation may be necessary. In case of hand anomalies (fused fingers), orthopedic surgeons are involved; in case of problems with internal organs, relevant specialists are involved.

Description:

Poland syndrome is a congenital malformation that includes absence of the pectoralis major and minor muscles, syndactyly (fusion of the fingers), brachydactyly, atelia (absence of the nipple of the mammary gland) and/or amastia (absence of the mammary gland itself), deformation or absence of several ribs, and absence of hair. in the armpit and a decrease in the thickness of the subcutaneous fat layer. It is named after the English medical student Alfred Poland, who in 1841 published a partial description of this syndrome. The incidence of Poland syndrome is 1:30000-1:32000 newborns, it is always unilateral in 80% of cases on the right. More common in men than women.

Causes of Poland syndrome:

The cause of Poland syndrome has not been fully elucidated. It is assumed that it may be based on hereditary, infectious, chemical, radiation, mechanical and other factors that act during a certain period of time during the intrauterine development of the human body.

Symptoms of Poland syndrome:

Absence of the pectoralis major muscle, underdevelopment (or complete absence) of the mammary gland or nipple on the affected side, as well as absence of hair in the armpit on the side on which the pathology is observed.

Treatment for Poland syndrome:

Poland syndrome affects all structures of the chest wall: the sternum, ribs, muscles, subcutaneous fat and spine. Due to the need for complex reconstruction of the chest, Poland syndrome can only be treated surgically.

Poland syndrome is a rare disorder that appears at birth. Signs are extremely variable.

Classically characterized by absence (aplasia) of the chest muscles on one side of the body (unilateral) and abnormally short, webbed fingers on one side (ipsilateral). Patients usually have a unilateral absence of the breast or part of the pectoral muscle.

Affected persons may have:

• underdevelopment or absence of one nipple (including the dark area around the nipple [areola]);
• partial absence of armpit hair.

Poland syndrome in girls manifests itself as insufficient development or absence (aplasia) of one breast and subcutaneous tissue. In some cases, skeletal abnormalities are present, such as:

• insufficient development or absence of the upper ribs;
• elevation of the scapula (Sprengel deformity);
• shortening of the arm, with underdevelopment of the bones of the forearm.

The disease most often affects the right side of the body. It occurs more often in men than in women. The exact cause of the disorder is unknown.

Synonyms

• Poland Anomaly;
• Poland sequence;
• Poland Syndactyly;
• Unilateral defect of the muscles of the chest and syndicalium of the arm.

Symptoms are extremely varied, even when more than one family member is affected. For example, one brother had all the main features of the condition, while another had only the absence of the pectoral muscle.

The disorder is most often characterized by the absence of chest muscles on one side of the body and involvement of the arm on one side (ipsilateral). 75 percent – ​​deviations affect the right side of the body.

Most affected people lack the pectoral muscle.

Some people with Poland syndrome have unilateral absence of other regional muscles, such as the latissimus dorsi and chest wall, which extends from the ribs under the armpit to the shoulder blade.

Anomalies include:

• underdevelopment or absence of a darkened area around the nipple (areola);
• absence of a nipple;
• abnormal hair growth under the armpit.

Poland syndrome in girls manifests itself as insufficient development or absence of breasts and subcutaneous tissues.

Additional bone defects are present in some people:

• underdevelopment or absence of the upper ribs;
• costal cartilages, with the help of which the ribs are attached to the sternum;
• abnormal height or insufficient development of the scapula;
• limited movement of the arm on the affected side;
• Sprengel deformity.

Most people with Poland syndrome:

• arms on one side of the body are affected;
• some finger bones (phalanxes) are underdeveloped or missing, resulting in abnormally short fingers (brachydactyl);
• syndactyls, fusion of fingers, especially index and middle fingers.

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Sometimes there is an abnormal contraction of the arm, with insufficient development of the bones of the forearm.

Reasons

According to reports in the medical literature, the vast majority of cases occur incidentally for unknown reasons in the absence of a family history.

Family inheritance has sometimes been reported - the disease in mother and child, siblings born to healthy parents.

Familial cases may result from an inherited susceptibility to a particular abnormality (early interruption of blood flow) predisposing to the syndrome.

The disorder is sometimes called Poland sequence. "Sequence" refers to the pattern of malformations derived from a single abnormality.

The main drawback of the disease is impaired arterial development, which leads to reduced or interrupted blood flow during early embryonic growth.

For a group of conditions arising from disruption of blood flow through arteries (subclavian, vertebral and their branches), the terminology “Temporal sequence of arterial interruption” was proposed at the sixth week of embryonic development. Such conditions include Poland syndrome, Mobius syndrome, Klippel-Feil syndrome, and Sprengel deformity.

It is believed that the specific pattern of defects depends on the site and degree of reduced blood flow.

Affected populations

The disorder is named after the researcher (Pland A) who described the condition in 1841. Poland syndrome is three times more common in men. Incidence is from one in 10,000 to one in 100,000. (Incidence is the number of new cases over a certain period.)

As noted above, the disease affects the right side of the body in about 75 percent of cases.

In 1998, the first case was reported in which both sides of the body were affected (bilateral involvement). The researchers described a young girl with bilateral pectoralis absence, symmetrical pectoral deformity, and bilateral arm involvement.

Related violations

Symptoms of the following disorders are similar, and comparisons are useful for differential diagnosis:

There are known cases where Poland's signs occur in combination with (Poland-Mobius syndrome). They are characterized by facial palsy due to disruption of the sixth and seventh cranial nerves (Moebius), chest wall defects, or uterine defects (symbrachydactyls) commonly seen in Poland.

Mobius syndrome

Characterized by:

• “mask”, without expressed emotions on the face;
• inability to make certain eye movements;
• ptosis;
• limited mobility of the tongue;
• poor sucking, swallowing;
• speech disorders.

Additional signs include:

• clubfoot;
• various limb defects;
• moderate mental retardation.

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Mobius syndrome usually occurs randomly for unknown reasons. It may result from early disruption of arterial blood flow during embryonic development.

Hypogenesis of the oromandibular limbus

A term used to describe a group of rare conditions characterized by underdevelopment (hypogenesis) of the mouth, jaw (oromandibular), hands, and feet.

This group of face-limb malformations includes Moebius, Charlie M, and Hanhart syndromes. They occur sporadically and are characterized by extremely variable clinical signs.

Some researchers believe that these are overlapping disease variants, representing a spectrum of malformations caused by environmental or other factors. Oromandibular-Limbus, Moebius hyporeception is caused by early disruption of blood flow in the arteries due to various mechanical factors.

Charlie M syndrome

A rare condition characterized by certain distinctive deformities of the face and limbs. Characterized by:

• wide-set eyes (ocular hypertelorism);
• wide nose and small mouth;
• incomplete closure of the roof of the mouth (cleft palate);
• abnormally small jaw (micrognathia);
• facial paralysis;
• missing or tapered front teeth (incisors);
• asymmetrical deviations of fingers and toes.

Occurs randomly for unknown reasons.

Diagnostics

The diagnosis is usually confirmed at birth based on characteristic physical signs, careful clinical evaluation, and various specialized tests.

Tests include advanced imaging techniques, such as CT scans, which determine the extent of the effect on the muscles. X-ray examinations are used to identify abnormalities of the arms, forearms, ribs, and shoulder blades.

Treatment

Treatment for Poland syndrome targets specific symptoms. It requires the coordinated efforts of a group of specialists: Plastic surgery to restore the chest wall, transplantation of the rib in the proper place.

Hello, Alexander!

Most likely, you talked about a congenital disease such as Poland syndrome, or the absence of the pectoral muscle. It occurs in both men and women. Treatment is surgical only, and is more often carried out in women with subsequent installation of implants. In men, if there is no pathology of the ribs, the operation is performed only for cosmetic reasons. Most often, muscle flaps of the dorsal muscle are used, but in this case you need to be prepared for the fact that there will be a scar under the armpit and minimal asymmetry of the back. With the current development of medicine, the scar can be easily removed. There are no other serious consequences of the operation, and after 2-3 days the patient goes home, having received recommendations from the attending physician. If the operation is done well - with preservation of the nerves in the transplanted muscle, etc., then after recovery it can be trained, but, of course, one must understand that training will still not give one hundred percent results.

The non-surgical route is the use of silicone prostheses, selected individually for each patient, and for men too. Now such prostheses are being manufactured that are very successfully used in practice. There is also a technique that involves introducing a special gel to create volume. You should consult directly with a plastic surgeon to assess the need for surgery, undergo a professional medical examination, and receive professional recommendations.

This is about the operation. But I would like to say something else. First of all, to calm you down, Alexander. Believe me, Poland syndrome is not a reason for suicide! Try to accept yourself as you are. And start relationships with girls. Because a normal, intelligent woman understands perfectly well that some defect in the body is nothing. And the one for whom only an ideal body is important... Do you need to connect your life with such a person? Look online for information about Nik Vucic. This man has no legs or arms - he was born this way. However, he created his own profitable business and recently got married. His example helped many people not to lose heart, to believe in themselves, and to avoid unforgivable actions. You are young, you have everything ahead of you.

Many people with Poland syndrome successfully engage in sports and achieve excellent results! Especially for you, I attach a photo of one of them. Exercising is useful, be sure to go to the gym, don’t quit, just distribute the load wisely.

Be confident in yourself and don't be afraid of anything. Live, because there is only one life. Don't let a cosmetic defect deprive you of its joys.

All the best, Veronica.