Poland syndrome

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Poland syndrom , named after British surgeon Alfred Poland, is a rare birth defect characterized by the backwardness or absence of pectoral muscles on one side of the body, and usually the cutaneous syndactyly of the hand on the same side (ipsilateral hands). In most affected individuals, the missing part is a large part of the muscle that usually attaches to the upper arm on one side and the breastbone (sternum) on the other side. Other disorders can occur on the affected side of the body. In some cases, additional muscles in the chest, sides, and shoulders wall are missing or underdeveloped.

There may also be rib defects, such as short ribs, and ribs may be noticeable because less fat is under the skin (subcutaneous fat). Breast and nipple abnormalities may also occur, and underarm hair (axilla) is sometimes rare or abnormal. In most cases, abnormalities in the chest area do not cause health problems or affect movement. Polish syndrome most often affects the right side of the body, and occurs more often in men than in women.

Usually considered a unilateral condition. Some people claim that this term can be applied in bilateral presentations, but others recommend the use of alternative terminology in such cases.

Video Poland syndrome

Tanda dan gejala

Signs very often

• Abnormal gastrointestinal tract
• No pectoral muscle
• Brachydactyly (Short finger)
• Dextrocardia
• Diagnagmatic/disability hernia
• Humerus is missing/abnormal
• Anomalies of the liver/biliary channel
• Diabetic mother
• Oligodactyly/missing fingers
• Radius is missing/abnormal
• Mikromelia rhizomelik (segment proximal limb relatively shorter than the middle and distal segments)
• Sparsity or axillary hair abnormalities on the affected side
• Sync finger (webbing)
• Ulna is missing/abnormal
• Upper extremity asymmetry
• Abnormal rib
• Simian folds on the affected side

Frequent signs

• White hypoplasia/none
• Scapula anomalies

Occasional signs

• Agentesis/renal hypoplasia
• Encephalocele/exencephaly
• Abnormal morphology of the hypothalamic-pituitary axis
• Abnormal function of the hypothalamus-hypophyseal axis
• Microcephaly
• Preaxial polydactyly
• Ureteric anomaly (reflux/duplex system)
• Vertebral segmentation anomaly

Maps Poland syndrome

Cause

The cause of Polish syndrome is unknown. However, the disruption of the embryonic blood supply to the artery that lies beneath the collarbone (subclavian) at about the 46th day of embryonic development is the prevailing theory.

The subclavian artery usually supplies blood to the embryonic tissues that give rise to chest wall and hands. The variations on the site and the level of disorder can explain the various signs and symptoms that occur in Polish syndrome. An embryonic structural abnormality called the apical ectodermal ridge, which fosters early onset of the leg, may also be involved in the disorder.

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Diagnosis

Polish syndrome is usually diagnosed at birth based on physical characteristics. Imaging techniques such as CT scans can reveal the extent to which muscles are affected. The syndrome varies in severity and thus is often not reported until puberty, when oblique growth becomes apparent.

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Treatment

Technique

The complete absence or part of the pectoralis muscle is a malformation that defines the Polish syndrome. This can be treated by incorporating custom implants designed by CAD (computer aided design). The patient's 3D chest reconstruction is carried out from a medical scanner to design a virtual implant perfectly adapted to the anatomy of each. The implants are made of unbreakable medical silicone rubber. This treatment is purely cosmetic and does not make up for the unbalanced upper body strength of the patient.

Malformation of Polish syndrome becomes morphological, correction by indigenous implants is first-line treatment. This technique allows a wide range of patients treated with good results. Polish syndrome can be associated with bone, subcutaneous atrophy and mammae: if the former, as for pectus excavatum, is successfully corrected by custom implants, others may require surgical interventions such as lipofilling or breast silicone implants, in a second surgery.

Surgery

The operation takes place under general anesthesia and lasts less than 1 hour. The surgeon prepares the locus to the size of the implant after performing an 8-cm axillary incision and inserts the implant under the skin. Closure is made in two planes.

The implant will replace the main pectoralis muscle, allowing the thorax to become symmetrical and, in women, the breasts as well. If necessary, especially in the case of women, a second surgery will supplement the result with implantation of breast implants and/or lipofilling.

Lipomodelling is increasingly used in the correction of breast and chest wall deformities. In Polish syndrome, this technique seems to be a major advance that might revolutionize care for severe cases. This is primarily because of its ability to achieve reconstruction quality that can not be achieved with minimal scarring.

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Epidemiology

According to the National Human Genome Research Institute, Polish syndrome affects men three times more often than women and affects the right side of the body twice more often than the left. The incidence is estimated to range from one in 7,000 to one in 100,000 live births.

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History

It was first mentioned in 1962 by Patrick Clarkson, a New Zealand-born plastic surgeon working at Guy's Hospital and Queen Mary's Hospital, London. He noticed that his three patients had an undeveloped hand and breast deformity on the same side. He discussed this with his colleague at Guy's Hospital, Dr. Philip Evans, who agreed that the syndrome was "not widely appreciated". Clarkson found references to a similar deformity published by Alfred Poland, more than a hundred years earlier in Guy Hospital's report, in 1841. Clarkson was able to find hand specimens dissected by Poles, which were still held in the hospital's pathology museum.

Poland has dissected an inmate known as George Elt, who is said to be unable to pull his hand on his chest. Poland notes the chest wall deformity, and this is illustrated in the article; The hand was also dissected and preserved for posterity at Guy Hospital's museum where he remains today. It can not really be said that Poland describes this syndrome because it only describes a separate case. Clarkson published a series of three cases and named the syndrome after Poland in his article.

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Famous cases

• TV presenter Jeremy Beadle (1948-2008) is known for having this condition. Her Polish syndrome manifests itself in the form of her disproportionate right hand.
• Olympic boxer JÃÆ'Ã… © rÃÆ'Â'me Thomas is also influenced by the Polish syndrome, because his left arm and arm are significantly shorter and smaller than his right. Thomas also has no left pectoral muscle.
• The PGA Tour golfer Bryce Molder has Polish syndrome, with a left of the left chest muscle and a small left hand. Some operations in his childhood were repaired syndactically in the left hand.
• Actor Ted Danson, famous for starring in the TV show Cheers , admits he had a condition in 2000 to Orange Coast magazine and said that he was bullied as a child because of it.
• Formula One World Champion Fernando Alonso is influenced by Polish syndrome; he lost the right pectoral muscle.
• Cricketer Lewis Hatchett was born with Polish syndrome.

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References

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External links

• Poland Syndrome Charity - is there to support those who need information and help deal with Polish Syndrome

Source of the article : Wikipedia