Poland syndrome explained

Poland syndrome
Synonyms:Poland's syndrome, Poland's syndactyly, Poland sequence, Poland's anomaly, unilateral defect of pectoralis major and syndactyly of the hand
Field:Medical genetics
Symptoms:Underdeveloped chest muscle and short webbed fingers on one side
Onset:At birth
Causes:Unknown
Diagnosis:Based on symptoms
Differential:Moebius syndrome, Hanhart syndrome
Treatment:Surgical correction
Frequency:1 in 20,000 newborns

Poland syndrome is a birth defect characterized by an underdeveloped chest muscle and short webbed fingers on one side of the body.[1] [2] There may also be short ribs, less fat, and breast and nipple abnormalities on the same side of the body.[2] Typically, the right side is involved.[1] Those affected generally have normal movement and health.[2]

The cause of Poland syndrome is unknown.[2] One theory is that it is due to disruption of blood flow during embryonic development.[2] It is generally not inherited, and no genes that contribute to the disorder have been identified. Diagnosis of Poland syndrome is based on its symptoms.[3] Often, those with the syndrome remain undiagnosed, and some may not realize they have it until puberty.[1]

Treatment of Poland syndrome depends on its severity and may include surgical correction.[1] The syndrome affects about 1 in 20,000 newborns, and males are affected twice as often as females.[2] It is named after English surgeon Sir Alfred Poland, who described the condition when he was a student in 1841.[3] [4]

Signs and symptoms

A list of the common side effects broken down by frequency.[1]

Very frequent

Frequent

Occasional

It is usually considered a unilateral condition. Some have claimed that the term can be applied in bilateral presentation,[5] but others recommend using alternate terminology in those cases.[2]

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.[6]

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.[7]

Diagnosis

Poland syndrome is 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.[8] The syndrome varies in severity and as such is often not reported until puberty, when lopsided growth becomes apparent.[9]

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).[10] A 3D reconstruction of the patient's chest is done using an implant shaped from a medical scan and designed to be perfectly adapted to the anatomy.[11] The implant is made of medical grade silicone rubber. The treatment is purely cosmetic and does not restore the patient's imbalanced upper body strength.

The Poland syndrome malformations are morphological, so correction by custom implant is the first-line treatment.[12] 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: the first, as for pectus excavatum, is successfully corrected by a custom implant, while 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 an 8cm (03inches) axillary incision, then inserts the implant beneath the skin. The closure is made in two planes.

The implant replaces 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.[13]

Epidemiology

Poland syndrome affects males three times as often as females and affects the right side of the body twice as often as the left.[14] The sex differential is a piece of evidence that there might be a genetic component to the syndrome, which could be sex-linked recessive pattern.[15] [16] On the other hand, a study from 2016 showed that REV3L, a gene on Chromosome 6 is implicated, amongst other "rare CNVs were identified in PS patients, and these involve genes that represent candidates for further evaluation."[17] REV3L in turn interacts with MAD2L2 on Chromosome 1;[18] [19] thus the inheritance patter is likely to be more complicated than a simple recessive pattern as shown on a basic pedigree chart.[20]

The incidence is estimated to range from one in 7,000 to one in 100,000 live births.[21]

History

It was 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, an English surgeon, over a hundred years earlier in Guy's Hospital reports, in 1841.[22] 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.[23]

Notable cases

Notes and References

  1. Web site: Poland syndrome . Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . 16 October 2018 . en . 2016.
  2. Web site: Reference. Genetics Home. 9 October 2018. Poland syndrome. Genetics Home Reference. en.
  3. Web site: Poland Syndrome . NORD (National Organization for Rare Disorders) . 16 October 2018 . 2007.
  4. Book: Weinzweig . Jeffrey . Plastic Surgery Secrets Plus E-Book . 2010 . Elsevier Health Sciences . 978-0-323-08590-8 . 774 . en.
  5. Karnak I. . Tanyel F. C. . Tunçbilek E. . Unsal M. . Büyükpamukçu N. . Bilateral Poland anomaly . Am. J. Med. Genet. . 75 . 5 . 505–07 . February 1998 . 9489794. 10.1002/(SICI)1096-8628(19980217)75:5<505::AID-AJMG9>3.0.CO;2-L.
  6. Poullin P. . Toussirot E. . Schiano A. . Serratrice G. . [Complete and dissociated forms of Poland's syndrome (5 cases)] . Rev Rhum Mal Osteoartic . 59 . 2 . 114–20 . 1992 . 1604222.
  7. Web site: Poland Syndrome. Genetics Home Reference. 12 December 2014.
  8. News: Poland Syndrome - NORD (National Organization for Rare Disorders). NORD (National Organization for Rare Disorders). 2018-03-18. en-US.
  9. Web site: Poland syndrome Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. rarediseases.info.nih.gov. en. 2018-03-18.
  10. 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 .
  11. Web site: Pectus Excavatum & Poland Syndrome treatment. AnatomikModeling.
  12. 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 . 1–17 . 10.1016/S1286-9325(06)44494-0.
  13. 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. ResearchGate. 24467681.
  14. Web site: Learning about Poland Anomaly . 2007-02-09 .
  15. Eman Awadh. Abduladheem Hashim. Bin Huey . Quek. Suresh . Chandran. A narrative review of Poland's syndrome: theories of its genesis, evolution and its diagnosis and treatment. Transl Pediatr . 10. 4. 1008–1019. 2021. 34012849. 10.21037/tp-20-320. free. 8107865.
  16. Web site: Sex-linked recessive. Medline. May 1, 2024.
  17. Assessment of copy number variations in 120 patients with Poland syndrome. Carlotta Maria . Vaccari. Elisa . Tassano. Michele . Torre. Stefania . Gimelli. Maria Teresa . Divizia. Maria Victoria . Romanini. BMC Medical Genetics. 17. 89 . 2016 . 89 . 10.1186/s12881-016-0351-x . free . 27884122 . 5123256 . 11567/855052 . free .
  18. Murakumo Y, Roth T, Ishii H, Rasio D, Numata S, Croce CM, Fishel R . A human REV7 homolog that interacts with the polymerase zeta catalytic subunit hREV3 and the spindle assembly checkpoint protein hMAD2 . J. Biol. Chem. . 275 . 6 . 4391–4397 . 2000 . 10660610 . 10.1074/jbc.275.6.4391 . free .
  19. Murakumo Y, Ogura Y, Ishii H, Numata S, Ichihara M, Croce CM, Fishel R, Takahashi M . Interactions in the error-prone postreplication repair proteins hREV1, hREV3, and hREV7 . J. Biol. Chem. . 276 . 38 . 35644–35651 . 2001 . 11485998 . 10.1074/jbc.M102051200 . free .
  20. For a basic, secondary (high school) level discussion of complex patterns of inheritance, see Alton Biggs, et al., Biology (Glencoe Science 2012), Chapter 11, pp. 294-323. isbn 978-894586-1.
  21. Fokin A, Robicsek F . Poland's syndrome revisited . Ann Thorac Surg . 74 . 6 . 2218–25 . 2002 . 12643435 . 10.1016/S0003-4975(02)04161-9.
  22. Poland A. . Alfred Poland . Deficiency of the pectoral muscles . . VI . 191–193 . 1841 . Plate. Guys Hosp Rep . 1836 .
  23. Clarkson P. . Patrick Clarkson . Poland's syndactyly . . 1962 . 111 . 335–46 . 14021589.
  24. News: Burt . Jennifer . Jeremy is a role model for children . Leicester (UK) Mercury . 1997-10-20 .
  25. Web site: Bryce Molder . PGA Tour . 6 Jan 2011 . https://web.archive.org/web/20110106034222/http://www.pgatour.com/players/02/38/00/ . January 6, 2011.
  26. Web site: Orange Coast Magazine. Emmis. Communications. 1 May 2000. Emmis Communications. 25 July 2018. Google Books.
  27. Web site: Poland Syndrome . Dovemed . 31 March 2016.
  28. Web site: Hatchett retires after defying the odds . 24 September 2016 . ESPN Cricinfo. 2016-09-24 .
  29. Web site: Mathew Silcocks APC Corporate. live. https://web.archive.org/web/20120712065931/https://www.paralympic.org.au/team/matthew-silcocks. 12 July 2012.
  30. Web site: 9-Year-Old Hailey Dawson Throws Out First Pitch At Camden Yards After Completing 'Journey To 30'. WJZ-TV. August 2, 2019. October 3, 2019.
  31. Web site: Girl with robotic hand throws inspiring first pitch. Alyson. Footer. October 28, 2017. July 1, 2018. MLB.com.
  32. Web site: Young Baseball Fan Starts 'Journey to 30' with Pitch for Padres. Cheryl. Bella. March 15, 2018. July 1, 2018. University of Nevada, Las Vegas.
  33. Web site: Interview with Matt Goss. . 12 March 2022 .
  34. Web site: Kim Daybell announces table tennis retirement. ParalympicsGB. 11 October 2022.

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