Poland syndrome

Poland syndrome
Synonyms Poland's syndrome, Poland's syndactyly, Poland sequence,[1] Poland's anomaly
Digital mammogram (Mediolateral view) showing absence of the pectoralis major muscle and architectural distortion on the left side and normal right breast
Specialty Medical genetics Edit this on Wikidata

Poland syndrome, named after British surgeon Alfred Poland, is a rare birth defect characterized by underdevelopment or absence of the chest muscle (pectoralis) on one side of the body, and usually also webbing of the fingers (cutaneous syndactyly) of the hand on the same side (the ipsilateral hand).[2] In most affected individuals, the missing part is the large section of the muscle that normally attaches to the upper arm on one side and the breastbone (sternum) on the other. Other abnormalities may occur on the affected side of the torso. In some cases, additional muscles in the chest wall, side, and shoulder are missing or underdeveloped.

There may also be rib cage abnormalities, such as shortened ribs, and the ribs may be noticeable due to less fat under the skin (subcutaneous fat). Breast and nipple abnormalities may also occur, and underarm (axillary) hair is sometimes sparse or abnormally placed. In most cases, the abnormalities in the chest area do not cause health problems or affect movement.[3] Poland syndrome most often affects the right side of the body, and occurs more often in males than in females.

It is usually considered a unilateral condition. Some have claimed that the term can be applied in bilateral presentation,[4] but others recommend using alternate terminology in those cases.[5]

Signs and symptoms[6]

Very frequent signs

Frequent signs

Occasional signs

Causes

The cause of Poland syndrome is unknown. However, an interruption of the embryonic blood supply to the arteries that lie under the collarbone (subclavian arteries) at about the 46th day of embryonic development is the prevailing theory.[7]

The subclavian arteries normally supply blood to embryonic tissues that give rise to the chest wall and hand. Variations in the site and extent of the disruption may explain the range of signs and symptoms that occur in Poland syndrome. Abnormality of an embryonic structure called the apical ectodermal ridge, which helps direct early limb development, may also be involved in this disorder.[8]

Diagnosis

Poland syndrome usually diagnosed at birth based upon the physical characteristics. Imaging techniques such as a CT scan may reveal the extent to which the muscles are affected.[9] The syndrome varies in severity and as such is often not reported until puberty, when lopsided growth becomes apparent.[10]

Treatment

Technique

The complete or partial absence of the pectoralis muscle is the malformation that defines Poland syndrome. It can be treated by inserting a custom implant designed by CAD (computer aided design).[11] A 3D reconstruction of the patient's chest is performed from a medical scanner to design a virtual implant perfectly adapted to the anatomy of each one.[12] The implant is made of medical silicone unbreakable rubber. This treatment is purely cosmetic and does not make up for the patient's imbalanced upper body strength.

The Poland syndrome malformations being morphological, correction by custom implant is a first-line treatment.[13] This technique allows a wide variety of patients to be treated with good outcomes. Poland Syndrome can be associated with bones, subcutaneous and mammary atrophy: if the first, as for pectus excavatum, is successfully corrected by a custom implant, the others can require surgical intervention such as lipofilling or silicone breast implant, in a second operation.

Surgery

The surgery takes place under general anaesthesia and lasts less than 1 hour. The surgeon prepares the locus to the size of the implant after performing a 8-cm axillary incision and inserts the implant beneath the skin. The closure is made in two planes.

The implant will replace the pectoralis major muscle, thus enabling the thorax to be symmetrical and, in women, the breast as well. If necessary, especially in the case of women, a second operation will complement the result by the implantation of a breast implant and / or lipofilling.

Lipomodelling is progressively used in the correction of breast and chest wall deformities. In Poland syndrome, this technique appears to be a major advance that will probably revolutionize the treatment of severe cases. This is mainly due to its ability to achieve previously unachievable quality of reconstruction with minimal scarring.[14]

Epidemiology

According to the National Human Genome Research Institute, Poland syndrome affects males three times as often as females and affects the right side of the body twice as often as the left.[15] The incidence is estimated to range from one in 7,000 to one in 100,000 live births.[16]

History

Alfred Poland's original description of the syndrome.

It was first named in 1962 by Patrick Clarkson, a New Zealand-born British plastic surgeon working at Guy's Hospital and Queen Mary's Hospital, London. He noticed that three of his patients had both a hand deformity and an underdeveloped breast 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 a reference to a similar deformity published by Alfred Poland, over a hundred years earlier in Guy's Hospital reports, in 1841.[17] Clarkson was able to find the hand specimen dissected by Poland, which was still held in the hospital pathology museum.

Poland had dissected a convict known as George Elt, who was said to be unable to draw his hand across his chest. Poland noted the chest wall deformity, and this was illustrated in his article; the hand was also dissected and preserved for posterity in Guy's Hospital museum where it remains today. It cannot be truly said that Poland described this syndrome because he only described one isolated case. Clarkson published his series of three cases and named the syndrome after Poland in his article.[18] According to the National Institute of Healh, Poland Syndrome affects 1 in 20,000 newborns (more males than females).[19]

Notable cases

  • TV presenter Jeremy Beadle (1948–2008) was known for having this condition. His Poland syndrome manifested itself in the form of his disproportionately small right hand.[20]
  • Olympic boxer Jérôme Thomas is also affected by Poland syndrome, as his left arm and hand are significantly shorter and smaller than his right. Thomas also lacks a left pectoral muscle.
  • PGA Tour golfer Bryce Molder has Poland syndrome, with an absent left pectoral muscle and a small left hand. Several surgeries in his childhood repaired syndactyly on the left hand.[21]
  • Actor Ted Danson, famous for starring in the TV show Cheers, admitted he had the condition in 2000 to Orange Coast magazine and said that he was bullied as a child because of it.[22]
  • Formula One World Champion Fernando Alonso is affected by Poland syndrome; he is missing the right pectoral muscle.[23]
  • Cricketer Lewis Hatchett was born with Poland syndrome.[24]
  • Hailey Dawson (born 2010), a resident of the Las Vegas area, has a missing right pectoral muscle and is missing three fingers on her right hand due to the condition. She is currently in the process of throwing the ceremonial first pitch at all 30 Major League Baseball parks, using a 3D-printed robotic right hand fitted for her by engineers at the University of Nevada, Las Vegas.[25][26]

References

  1. ↑ Martínez-Frías M. L., Czeizel A. E., Rodríguez-Pinilla E., Bermejo E. (January 1999). "Smoking during pregnancy and Poland sequence: results of a population-based registry and a case-control registry". Teratology. 59 (1): 35–38. doi:10.1002/(SICI)1096-9926(199901)59:1<35::AID-TERA8>3.0.CO;2-E. PMID 9988881.
  2. ↑ "Poland Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2016-02-29.
  3. ↑ "Poland Syndrome". Genetics Home Reference. Retrieved 17 April 2018.
  4. ↑ Karnak I., Tanyel F. C., Tunçbilek E., Unsal M., Büyükpamukçu N. (February 1998). "Bilateral Poland anomaly". Am. J. Med. Genet. 75 (5): 505–07. doi:10.1002/(SICI)1096-8628(19980217)75:5<505::AID-AJMG9>3.0.CO;2-L. PMID 9489794.
  5. ↑ Maroteaux P., Le Merrer M. (December 1998). "Bilateral Poland anomaly versus thoracic dysplasia". Am. J. Med. Genet. 80 (5): 538–09. doi:10.1002/(SICI)1096-8628(19981228)80:5<538::AID-AJMG23>3.0.CO;2-S. PMID 9880227.
  6. ↑ "Poland syndrome". Genetic and Rare Diseases Information Center (GARD). Retrieved 17 April 2018.
  7. ↑ Poullin P., Toussirot E., Schiano A., Serratrice G. (1992). "[Complete and dissociated forms of Poland's syndrome (5 cases)]". Rev Rhum Mal Osteoartic. 59 (2): 114–20. PMID 1604222.
  8. ↑ "Poland Syndrome". Genetics Home Reference. Retrieved 12 December 2014.
  9. ↑ "Poland Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-03-18.
  10. ↑ "Poland syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2018-03-18.
  11. ↑ J.-P. Chavoin; A. André; E. Bozonnet; A. Teisseyre; J. Arrue; B. Moreno; D. Glangloff; J-.L. Grolleau; I. Garrido (2010). "Mammary implant selection or chest implants fabrication with computer help". Annales de Chirurgie Plastique Esthétique. 55: 471–480.
  12. ↑ "anatomikmodeling.com".
  13. ↑ Chichery A.; Jalbert F.; Foucras L.; Grolleau J.-L.; Chavoin J.-P. (2006). "Syndrome de Poland". EMC - Techniques Chirurgicales - Chirurgie Plastique Reconstructrice et Esthétique. 1 (3): 1. doi:10.1016/S1286-9325(06)44494-0.
  14. ↑ Emmanuel Delay, Libor Streit, Gilles Toussoun, Sophie La Marca, C. Ho Quoc. (January 2013). "Lipomodelling: An important advance in breast surgery". Acta Chirurgiae Plasticae. 55 (2): 34–43. PMID 24467681 – via ResearchGate.
  15. ↑ "Learning about Poland Anomaly". Retrieved 2007-02-09.
  16. ↑ Fokin A, Robicsek F (2002). "Poland's syndrome revisited". Ann Thorac Surg. 74 (6): 2218–25. doi:10.1016/S0003-4975(02)04161-9. PMID 12643435.
  17. ↑ Poland A. (1841). "Deficiency of the pectoral muscles". Guy's Hospital Reports. VI: 191–193.
  18. ↑ Clarkson P. (1962). "Poland's syndactyly". Guys Hosp Rep. 111: 335–46. PMID 14021589.
  19. ↑ "Meet the pint-sized baseball fan throwing out first pitches at every MLB stadium in America: Hailey Dawson, 8, is pitching with a ROBOTIC HAND made by a 3D printer after being born with a rare syndrome". www.msn.com. Retrieved 2018-07-13.
  20. ↑ Burt, Jennifer (1997-10-20). "Jeremy is a role model for children". Leicester (UK) Mercury.
  21. ↑ "Bryce Molder". PGA Tour. Archived from the original on January 6, 2011. Retrieved 6 Jan 2011.
  22. ↑ Communications, Emmis (1 May 2000). "Orange Coast Magazine". Emmis Communications. Retrieved 25 July 2018 – via Google Books.
  23. ↑ "Poland Syndrome". Dovemed. Retrieved 31 March 2016.
  24. ↑ "Hatchett retires after defying the odds". ESPN Cricinfo. Retrieved 24 September 2016.
  25. ↑ F#oter, Alyson (October 28, 2017). "Girl with robotic hand throws inspiring first pitch". MLB.com. Retrieved July 1, 2018.
  26. ↑ Bella, Cheryl (March 15, 2018). "Young Baseball Fan Starts 'Journey to 30' with Pitch for Padres". University of Nevada, Las Vegas. Retrieved July 1, 2018.
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