Poland syndrome

Generality

Poland syndrome, or Poland anomaly, is a unilateral set of physical malformations involving the pectoral muscles of one half of the thorax and the upper limb (including the hand) bordering.

Clear example of Poland syndrome with absence of the right pectoral mucus. From the site: washingtonianplasticsurgery.com

The precise causes remain a mystery; however the doctors have some suspicions. In fact, they believe that the malformations typical of Poland syndrome are caused by an abnormality of blood circulation along one of the two subclavian arteries. Located one on the right and one on the left, the subclavian arteries supply blood to the upper limbs and some arterial vessels that reach the head.

Typical manifestations of Poland syndrome: pectoral muscle abnormalities, cutaneous syndactyly, brachydactyly and sinus anomalies.

The therapy basically consists of reconstructive surgery treatments, aimed at recovering a certain body symmetry.

What is Poland syndrome?

Poland syndrome, also known as Poland's anomaly, is a set of congenital anatomical anomalies located on one side of the body only, precisely between the pectoral muscles of one half of the thorax and the adjacent upper limb (hand in particular).

In other words, an individual with Poland syndrome has unilateral physical malformations, affecting one half of the chest and one or more of the following elements: shoulder, arm and hand.

Note: the term "congenital" associated with a pathology indicates that the latter is present from birth.

ORIGIN OF THE NAME

Poland's syndrome owes its name to a certain Alfred Poland, who deserves credit for having described the main clinical features first, as far back as 1841. Born in Great Britain, Poland worked as an anatomist and surgeon by profession.

Curiosity

To coin the name Poland syndrome was a certain Patrick Clarkson, a plastic surgeon by profession, in 1962.

Clarkson used this terminology after finding, in three of his patients, the same physical malformations described by Poland, in his paper, more than a hundred years before.

DOES POLAND'S SYNDROME HAVE A SIDE OF THE FAVORITE BODY?

For unknown reasons, Poland syndrome affects the right side of the body more frequently. To be more precise, it is twice as common as the right side.

Epidemiology

At present, there is a lack of precise data concerning the spread of Poland syndrome in the general population. This lack is due to the fact that some forms of the disease are so slight that they pass unnoticed if not for life, at least for a certain part.

According to some approximate estimates, the Poland syndrome would have an incidence between one case per 10, 000 and one case per 100, 000 newborns.

Causes

Despite numerous research on this subject, the precise causes of Poland syndrome remain a mystery.

The doctors have proposed two different causal theories, which however start from the same basic concept: the presence of an alteration of the blood flow along the subclavian artery, located on the side of the symptomatic body (ie presenting the clinical signs of the disease).

The right subclavian artery and the left subclavian artery are two important arterial vessels that supply blood, respectively:

• The upper part of the right thorax and the upper part of the left thorax.
• The upper right limb and the left upper limb.
• The right vertebral arteries and the left vertebral arteries, located on the neck and with the task of supplying blood to part of the head.

FIRST THEORY

According to the first causal theory, the alteration of blood flow along a subclavian artery would be due to an incorrect development of the upper ribs, located on the side of the symptomatic body.

In other words, developing abnormally, the upper ribs of half the rib cage would compress the underlying subclavian artery, hindering internal blood flow.

SECOND THEORY

According to the second causal theory, the alteration of blood flow along a subclavian artery would be associated with an embryonic anomaly affecting the same subclavian artery (or rather that which will give rise to the subclavian artery) and its ramifications ( that carry blood to the pectoral muscles, arm and hand).

WHAT IS THE MOST ACCREDITED THEORY?

Experts believe that the most reliable theory, between the two so far developed, is the second.

However, further studies are needed, as the scientific data currently in possession are insufficient.

POLAND SYNDROME AND FAMILIARITY

According to doctors and geneticists, Poland syndrome would almost always be the result of chance - hence a sporadic event - and only rarely a hereditary condition.

To confirm this theory, there are various clinical observations, collected during the various diagnostic investigations.

Symptoms and Complications

The unilateral physical malformations that characterize the Poland syndrome are:

• The underdevelopment or total absence of the pectoralis major pectoralis major . For those who ignore it, the pectoralis major muscles and the small pectoral muscles are located on the upper part of the chest, where the breast resides.
• Failed union of the pectoral muscles (large and / or small) to the sternum . To guarantee this union is a system of tendons.
• Underdevelopment or complete absence of the nipple, areola and, in women, mammary glandular tissue (or mammary gland) .
• Short fingers and joined together only through the skin . The first condition is called brachydactyly, while the second is known as cutaneous syndactyly .
• Lack of axillary hair .
• Abnormalities of scapula and shoulder .

Not all patients show this entire symptom picture: there are some that only present abnormalities in the pectoral muscles; others that also have skin syndactyly and scapula abnormalities, etc.

From the site: www.riedlteach.com

In fact, therefore, every individual with Poland syndrome represents a case in itself.

POSSIBLE OTHER ASSOCIATED SIGNS

During the various clinical investigations and thanks to the description of numerous cases, doctors have been able to ascertain that individuals with Poland syndrome, in addition to presenting the aforementioned signs, can also manifest other less common anatomical defects.

With the help of the table below, the reader can see what these defects are and know their frequency of appearance.

Diagnosis

In general, doctors diagnose Poland syndrome by careful physical examination .

If they resort to further instrumental examinations, it is to investigate some characteristics of the condition, such as for example any other anatomical anomalies not visible to the naked eye, etc.

EXAMINATION OBJECTIVE

A thorough physical examination requires the doctor to visit the patient, evaluating the entire symptom situation. The typical clinical signs of Poland syndrome are fundamental, from a diagnostic point of view; therefore their feedback directs the physician towards often very precise and definitive conclusions.

INSTRUMENTAL EXAMINATIONS

They help the doctor to clarify the characteristics of Poland syndrome:

• An X-ray examination of the anatomical region presenting the malformations
• A TAC
• A nuclear magnetic resonance (RMN)

The information provided by these procedures also allows you to plan the most appropriate surgical treatment.

LATE DIAGNOSIS IN THE EVENT OF SLIGHT FORMS

Mild forms of Poland syndrome can sometimes be difficult to diagnose, at least until puberty or at the end of it, when the body has completed part of its development.

An emblematic example of what has just been said sees women and breast development as protagonists: female individuals with a non-severe form of Poland syndrome may find themselves suffering from the aforementioned disease, only after having noticed that one of the two mammary glands has not completed development.

Treatment

Thanks to advances in medicine, today it is possible to treat part of the malformations and anomalies that characterize the Poland syndrome.

The treatments envisaged consist of surgical interventions, aimed at reconstructing the anatomical areas presenting the anomalies.

Currently, these interventions - which fall under the surgical branch known as reconstructive surgery - make it possible to treat:

• The absence or anomalies of the pectoralis major pectoralis major .

  The operations include the taking, from another area of ​​the body, of some muscle fibers and their transplantation at chest level (obviously at the point where the muscular malformation resides). The final intent of the physician is to create a certain symmetry between the side of the healthy body and the side of the symptomatic body.

  When it is better to intervene: according to the doctors, the males should undergo surgery around the age of 13, while the females at the end of the development, in particular, when the breast has completed its growth (this allows to reconstruct any malformed breast and make it very similar to the healthy one).

• Skin syndactyly .

  The treatments for this problem consist in the separation of the joined fingers through the skin. The difficulty in performing such operations depends on the severity of skin syndactyly: if the latter is particularly severe (for example it includes several fingers), the procedure becomes complex and more difficult to carry out.

  When it is better to intervene: in general, doctors believe that it is good to operate during the first months of life. The reason is very simple: such an early operation reduces the risk of developing further malformations in the joints of the hand or the fingers themselves.

• The defects of the rib cage .

  Today it is possible to reconstruct or normalize some sections of the thoracic cage, resorting to the insertion of bio-engineered cartilages. These are new generation approaches, which provide quite satisfactory results.

  When it is better to intervene: the doctors believe that the best time to try this type of therapeutic solution is at the end of the body development.

Prognosis

The prognosis depends on the severity of the condition: unlike patients with a severe form, those with a mild form of Poland syndrome can enjoy an almost normal life, especially if subjected to the right therapies.