Poland syndrome

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Poland syndrome
Other namesPoland's syndrome, Poland's syndactyly, Poland sequence, Poland's anomaly, unilateral defect of pectoralis major and syndactyly of the hand [1]
PolandSydromePec.jpg
Missing right breast and right pectoralis major muscle in Poland syndrome [2]
Specialty Medical genetics
Symptoms Underdeveloped chest muscle and short webbed fingers on one side [3] [1]
Usual onsetAt birth [1]
CausesUnknown [1]
Diagnostic method Based on symptoms [4]
Differential diagnosis Moebius syndrome, Hanhart syndrome [4]
TreatmentSurgical correction [3]
Frequency1 in 20,000 newborns [1]

Poland syndrome is a birth defect characterized by an underdeveloped chest muscle and short webbed fingers on one side of the body. [3] [1] There may also be short ribs, less fat, and breast and nipple abnormalities on the same side of the body. [1] Typically, the right side is involved. [3] Those affected generally have normal movement and health. [1]

Contents

The cause of Poland syndrome is unknown. [1] One theory is that it is due to disruption of blood flow during embryonic development. [1] It is generally not inherited, and no genes that contribute to the disorder have been identified. [1] Diagnosis of Poland syndrome is based on its symptoms. [4] Often, those with the syndrome remain undiagnosed, and some may not realize they have it until puberty. [3]

Treatment of Poland syndrome depends on its severity and may include surgical correction. [3] The syndrome affects about 1 in 20,000 newborns, and males are affected twice as often as females. [1] It is named after English surgeon Sir Alfred Poland, who described the condition when he was a student in 1841. [4] [5]

Signs and symptoms

Right hand symbrachydactyly in Poland syndrome PolandSydromeHand.jpg
Right hand symbrachydactyly in Poland syndrome
Male with Poland syndrome showing absent left pectoral Showing Poland syndrome clearly (cropped).jpg
Male with Poland syndrome showing absent left pectoral

A list of the common side effects broken down by frequency. [3]

Very frequent

Frequent

Occasional

It is usually considered a unilateral condition. Some have claimed that the term can be applied in bilateral presentation, [6] but others recommend using alternate terminology in those cases. [1]

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

The person's largest cavernous malformation is shown in the left frontal pole. This lesion has classic signs of hemorrhage (white arrows). More lesions compatible with cavernous malformations in other areas of the brain can also be observed (arrowheads). Poland syndrome. CVMPoland.jpg
The person's largest cavernous malformation is shown in the left frontal pole. This lesion has classic signs of hemorrhage (white arrows). More lesions compatible with cavernous malformations in other areas of the brain can also be observed (arrowheads). Poland syndrome.
Mammogram showing absence of the pectoralis major muscle and distortion on the left side. Right side is normal. Polanda.jpg
Mammogram showing absence of the pectoralis major muscle and distortion on the left side. Right side is normal.

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. [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 done using an implant shaped from a medical scan and designed to be perfectly adapted to the anatomy. [12] 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.[ citation needed ]

The Poland syndrome malformations are morphological, so correction by custom implant is the 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: the first, as for pectus excavatum, is successfully corrected by a custom implant, while the others can require surgical intervention such as lipofilling[ clarification needed ] or silicone breast implant, in a second operation.[ citation needed ]

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 8-centimetre (3.1 in) axillary incision, then inserts the implant beneath the skin. The closure is made in two planes.[ citation needed ]

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.[ citation needed ]

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

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 sex differential is a piece of evidence that there might be a genetic component to the syndrome, which could be sex-linked recessive pattern. [16] [17] 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." [18] REV3L in turn interacts with MAD2L2 on Chromosome 1; [19] [20] thus the inheritance patter is likely to be more complicated than a simple recessive pattern as shown on a basic pedigree chart. [21]

The incidence is estimated to range from one in 7,000 to one in 100,000 live births. [22]

History

Alfred Poland's original description of the syndrome. Poland syndrome description.jpg
Alfred Poland's original description of the syndrome.

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. [23] Clarkson was able to find the hand specimen dissected by Poland, which was still held in the hospital pathology museum.[ citation needed ]

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. [24]

Notable cases

Related Research Articles

<span class="mw-page-title-main">Polydactyly</span> Physical anomaly involving extra fingers or toes

Polydactyly or polydactylism, also known as hyperdactyly, is an anomaly in humans and non-human animals resulting in supernumerary fingers and/or toes. Polydactyly is the opposite of oligodactyly.

<span class="mw-page-title-main">Anotia</span> Medical condition

Anotia describes a rare congenital deformity that involves the complete absence of the auricle, the outer projected portion of the ear, and narrowing or absence of the ear canal. This contrasts with microtia, in which a small part of the auricle is present. Anotia and microtia may occur unilaterally or bilaterally. This deformity results in conductive hearing loss, deafness.

<span class="mw-page-title-main">Pectus excavatum</span> Congenital deformity of the chest

Pectus excavatum is a structural deformity of the anterior thoracic wall in which the sternum and rib cage are shaped abnormally. This produces a caved-in or sunken appearance of the chest. It can either be present at birth or develop after puberty.

<span class="mw-page-title-main">Pectoralis major</span> Main human chest muscle

The pectoralis major is a thick, fan-shaped or triangular convergent muscle of the human chest. It makes up the bulk of the chest muscles and lies under the breast. Beneath the pectoralis major is the pectoralis minor muscle.

<span class="mw-page-title-main">Arthrogryposis</span> Medical condition

Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning 'curving of joints'.

<span class="mw-page-title-main">Incontinentia pigmenti</span> Rare X-linked dominant genetic disorder

Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disorder that affects the skin, hair, teeth, nails and central nervous system. It is named from its appearance under a microscope.

<span class="mw-page-title-main">Apert syndrome</span> Congenital disorder of the skull and digits

Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial arches in fetal development create lasting and widespread effects.

<span class="mw-page-title-main">Andersen–Tawil syndrome</span> Rare autosomal dominant genetic disorder

Andersen–Tawil syndrome, also called Andersen syndrome and long QT syndrome 7, is a rare genetic disorder affecting several parts of the body. The three predominant features of Andersen–Tawil syndrome include disturbances of the electrical function of the heart characterised by an abnormality seen on an electrocardiogram and a tendency to abnormal heart rhythms, physical characteristics including low-set ears and a small lower jaw, and intermittent periods of muscle weakness known as hypokalaemic periodic paralysis.

Pectus carinatum, also called pigeon chest, is a malformation of the chest characterized by a protrusion of the sternum and ribs. It is distinct from the related malformation pectus excavatum.

<span class="mw-page-title-main">Saethre–Chotzen syndrome</span> Medical condition

Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis. This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face. Individuals with SCS also have droopy eyelids (ptosis), widely spaced eyes (hypertelorism), and minor abnormalities of the hands and feet (syndactyly). Individuals with more severe cases of SCS may have mild to moderate intellectual or learning disabilities. Depending on the level of severity, some individuals with SCS may require some form of medical or surgical intervention. Most individuals with SCS live fairly normal lives, regardless of whether medical treatment is needed or not.

<span class="mw-page-title-main">Micromastia</span> Abnormally underdeveloped breasts

Micromastia is a medical term describing the postpubertal underdevelopment of a woman's breast tissue. Just as it is impossible to define 'normal' breast size, there is no objective definition of micromastia. Breast development is commonly asymmetric and one or both breasts may be small. This condition may be a congenital defect associated with underlying abnormalities of the pectoral muscle, related to trauma or it may be a more subjective aesthetic description.

<span class="mw-page-title-main">Alfred Poland</span> British surgeon

Sir Alfred Poland was a 19th-century British surgeon. He is now best known for the first account of the condition later known as Poland syndrome, a congenital deformity now described as an underdevelopment or absence of the chest muscle (pectoralis) on one side of the body and webbing of the fingers of the hand on the same side.

<span class="mw-page-title-main">Duane-radial ray syndrome</span> Medical condition

Duane-radial ray syndrome, also known as Okihiro syndrome, is a rare autosomal dominant disorder that primarily affects the eyes and causes abnormalities of bones in the arms and hands. This disorder is considered to be a SALL4-related disorder due to the SALL4 gene mutations leading to these abnormalities. It is diagnosed by clinical findings on a physical exam as well as genetic testing and imaging. After being diagnosed, there are other evaluations that one may go through in order to determine the extent of the disease. There are various treatments for the symptoms of this disorder.

<span class="mw-page-title-main">Ectrodactyly–ectodermal dysplasia–cleft syndrome</span> Medical condition

Ectrodactyly–ectodermal dysplasia–cleft syndrome, or EEC, and also referred to as EEC syndrome and split hand–split foot–ectodermal dysplasia–cleft syndrome is a rare form of ectodermal dysplasia, an autosomal dominant disorder inherited as a genetic trait. EEC is characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefts. Other features noted in association with EEC include vesicoureteral reflux, recurrent urinary tract infections, obstruction of the nasolacrimal duct, decreased pigmentation of the hair and skin, missing or abnormal teeth, enamel hypoplasia, absent punctae in the lower eyelids, photophobia, occasional cognitive impairment and kidney anomalies, and conductive hearing loss.

Amastia refers to a rare clinical anomaly in which both internal breast tissue and the visible nipple are absent on one or both sides. It affects both men and women. Amastia can be either isolated or comorbid with other syndromes, such as ectodermal dysplasia, Syndactyly and lipoatrophic diabetes. This abnormality can be classified into various types, and each could result from different pathologies. Amastia differs from amazia and athelia. Amazia is the absence of one or both mammary glands but the nipples remain present, and athelia is the absence of one or both nipples, but the mammary gland remains.

Pediatric plastic surgery is plastic surgery performed on children. Its procedures are predominantly conducted for reconstructive purposes, although some cosmetic procedures are performed on children as well. In children, the line between cosmetic and reconstructive surgery is often blurred, as many congenital deformities impair physical function as well as aesthetics.

<span class="mw-page-title-main">Congenital clasped thumb</span> Medical condition

Congenital clasped thumb describes an anomaly which is characterized by a fixed thumb into the palm at the metacarpophalangeal joint in one or both hands. The incidence and genetic background are unknown. A study of Weckesser et al. showed that boys are twice as often affected with congenital clasped thumb compared to girls. The anomaly is in most cases bilateral . A congenital clasped thumb can be an isolated anomaly, but can also be attributed to several syndromes.

<span class="mw-page-title-main">Ectrodactyly</span> Malformation of the central digit(s) of the hand or foot

Ectrodactyly, split hand, or cleft hand involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). The hands and feet of people with ectrodactyly (ectrodactyls) are often described as "claw-like" and may include only the thumb and one finger with similar abnormalities of the feet.

Patrick Wensley Clarkson,, was a plastic surgeon at Guy's Hospital in London, best known for surgery of the hand and the description of "Poland Syndactyly", later termed Poland syndrome.

Filippi syndrome, also known as Syndactyly Type I with Microcephaly and Mental Retardation, is a very rare autosomal recessive genetic disease. Only a very limited number of cases have been reported to date. Filippi Syndrome is associated with diverse symptoms of varying severity across affected individuals, for example malformation of digits, craniofacial abnormalities, intellectual disability, and growth retardation. The diagnosis of Filippi Syndrome can be done through clinical observation, radiography, and genetic testing. Filippi Syndrome cannot be cured directly as of 2022, hence the main focus of treatments is on tackling the symptoms observed on affected individuals. It was first reported in 1985.

References

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  5. ↑ Weinzweig, Jeffrey (2010). Plastic Surgery Secrets Plus E-Book. Elsevier Health Sciences. p. 774. ISBN   978-0-323-08590-8.
  6. ↑ 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.
  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.
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  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.
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  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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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  17. ↑ "Sex-linked recessive". Medline . Retrieved May 1, 2024.
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