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The New England Journal of Medicine Jan 2018
Topics: Aged, 80 and over; Fingers; Humans; Male; Muscular Diseases; Pectoralis Muscles; Poland Syndrome
PubMed: 29298145
DOI: 10.1056/nejmicm1709713 -
Seminars in Thoracic and Cardiovascular... 2009Poland syndrome is characterized by hypoplasia or absence of the breast or nipple, hypoplasia of subcutaneous tissue, absence of the costosternal portion of the... (Review)
Review
Poland syndrome is characterized by hypoplasia or absence of the breast or nipple, hypoplasia of subcutaneous tissue, absence of the costosternal portion of the pectoralis major muscle, absence of the pectoralis minor muscle, and absence of costal cartilages or ribs 2, 3, and 4 or 3, 4, and 5. The chest wall defect is often associated with a lung hernia. Clinical manifestations are extremely variable and rarely are all the features recognized in 1 individual. Fortunately it is invariably unilateral, allowing for an easier reconstruction. Single-stage reconstruction of the chest wall combined with simultaneous augmentation mammoplasty and transfer of an island pedicle myocutaneous flap of latissimus dorsi muscle are major improvements over previous multiple-stage procedures that provide less satisfactory cosmetic results in management of patients with Poland syndrome.
Topics: Breast; Female; Humans; Male; Mammaplasty; Pectoralis Muscles; Poland Syndrome; Ribs; Sternum; Surgical Flaps; Thoracic Surgical Procedures; Treatment Outcome
PubMed: 19632568
DOI: 10.1053/j.semtcvs.2009.03.004 -
Seminars in Pediatric Surgery Aug 2008The main purpose of surgical correction in Poland's syndrome is to improve chest wall symmetry and correct breast hypoplasia. Creation of an anterior axillary fold and... (Review)
Review
The main purpose of surgical correction in Poland's syndrome is to improve chest wall symmetry and correct breast hypoplasia. Creation of an anterior axillary fold and smoothing out the infraclavicular defect greatly improves the final result. Cardiorespiratory function may be impaired, but serious conditions requiring early operative correction are rare. When present, unilateral costochondral agenesis involves one to three segments in the mid-anterior chest and sternal depression to that side. Operative planning in such cases includes a multi-layered approach to provide a solid base for soft tissue reconstruction of the more superficial layers.
Topics: Age Factors; Child; Female; Humans; Poland Syndrome; Plastic Surgery Procedures
PubMed: 18582821
DOI: 10.1053/j.sempedsurg.2008.03.005 -
Annales de Chirurgie Plastique Et... Nov 2022Breast and thoracic deformities of Poland syndrome is a rare malformation known to be difficult to treat. Numerous descriptions of surgical corrections have been...
Breast and thoracic deformities of Poland syndrome is a rare malformation known to be difficult to treat. Numerous descriptions of surgical corrections have been published but none achieved to correct severe cases before description of lipomodeling technique. The aim of this article is to present thoraco-mammary deformity of Poland syndrome, corrections techniques already available and therapeutical indications in primary and secondary cases. Constant anomaly of Poland syndrome is agenesis of sterno-costal part of pectoralis major muscle but other muscular anomalies can be associated. Skin and glandular anomalies present with a fine skin and an absent or hypoplasic subcutaneous fat with a glandular hypoplasia of various degree. Osteo-cartilaginous anomalies can be associated in very severe cases. Clinical sign of Poland syndrome is forced adduction manoeuvre highlighting pectoralis major agenesis. Functional impact of the deformity is low but psychological and psychosocial implications can be very important, supporting an early surgical correction. Therapeutic means are various and accurate descriptions are given in this article: thoracic bony reconstruction, thoracic implant made of silicone elastomer, breast implant, skin expansion, latissimus dorsi pedicled flap, free flaps, breast lipomodeling, Breast-pectoralis flap. Principles of each technique are described and balanced with their actual use in this malformation. Indications have been completely modified these last years due to lipomodeling contribution which represented a huge step in this deformity treatment. In our practice, if autologous reconstruction with lipomodeling is possible, we choose this solution at first. In case of severe thoracic deformity, a silicone elastomer implant made with the help of computed assisted conception can be an important adjunct, mainly by thin young man. In secondary cases, if implant is well tolerated, we found logical to stay in the same reconstruction path and do one or two sessions of lipomodeling in order to improve reconstruction. If implant tolerance is low and skin very thin at risk of exposure, we do recommend a conversion of implant reconstruction to autologous reconstruction. In conclusion, thoraco-mammary deformities of Poland syndrome are rare and hard to treat and should be managed by well trained and experimented surgeons. Breast lipomodeling is a huge step in the treatment of these deformities and should be regarded, in our opinion, as first line treatment if fat deposits are sufficient. In case of low fat provisions or in the thin young man, composite techniques should be used with silicone elastomer implant.
Topics: Breast Implants; Free Tissue Flaps; Humans; Male; Mammaplasty; Poland Syndrome; Silicone Elastomers
PubMed: 35995703
DOI: 10.1016/j.anplas.2022.07.020 -
BMC Pediatrics Dec 2022Möbius (Moebius) and Poland's syndromes are two rare congenital syndromes characterized by non-progressive bilateral (and often asymmetric) dysfunction of the 6 and 7... (Review)
Review
BACKGROUND
Möbius (Moebius) and Poland's syndromes are two rare congenital syndromes characterized by non-progressive bilateral (and often asymmetric) dysfunction of the 6 and 7 cranial nerves and hypoplasia of the pectoral muscles associated with chest wall and upper limb anomalies respectively. Manifest simultaneously as Poland-Möbius (Poland-Moebius) syndrome, debate continues as to whether this is a distinct nosological entity or represents phenotypic variation as part of a spectrum of disorders of rhomboencephalic development. Etiological hypotheses implicate both genetic and environmental factors. The PLXND1 gene codes for a protein expressed in the fetal central nervous system and vascular endothelium and is thus involved in embryonic neurogenesis and vasculogenesis. It is located at chromosome region 3q21-q22, a locus of interest for Möbius syndrome.
CASE PRESENTATION
We present the first report of a patient with Poland-Möbius syndrome and a mutation in the PLXND1 gene. A child with Poland-Möbius syndrome and a maternally inherited missense variant (NM_015103.2:ex14:c.2890G > Ap.V964M) in the PLXND1 gene is described. In order to contextualize these findings, the literature was examined to identify other confirmed cases of Poland-Möbius syndrome for which genetic data were available. Fourteen additional cases of Poland-Möbius syndrome with genetic studies are described in the literature. None implicated the PLXND1 gene which has previously been implicated in isolated Möbius syndrome.
CONCLUSIONS
This report provides further evidence in support of a role for PLXND1 mutations in Möbius syndrome and reasserts the nosological link between Möbius and Poland's syndromes.
LEVEL OF EVIDENCE
Level V, Descriptive Study.
Topics: Child; Humans; Mobius Syndrome; Poland Syndrome; Mutation; Thoracic Wall; Central Nervous System
PubMed: 36581828
DOI: 10.1186/s12887-022-03803-3 -
Seminars in Pediatric Surgery Jun 2018Poland Syndrome (PS) is a rare condition, with an estimated incidence of approximately 1 per 30,000 births and encompasses a wide range of severities of chest and upper... (Review)
Review
Poland Syndrome (PS) is a rare condition, with an estimated incidence of approximately 1 per 30,000 births and encompasses a wide range of severities of chest and upper arm anomalies. The etiology remains unknown, but genetic involvement is suspected. Few radiological investigations have proven useful in the study PS phenotypes and we propose a reference algorithm for guiding pediatricians. Our experience with 245 PS patients in the last 10 years stimulated a phenotypical classification of PS. The management of the different PS types and a therapeutic algorithm according to the phenotypical features of each PS patient are also proposed.
Topics: Algorithms; Clinical Decision-Making; Humans; Orthopedic Procedures; Phenotype; Poland Syndrome
PubMed: 30078491
DOI: 10.1053/j.sempedsurg.2018.05.007 -
Chest Surgery Clinics of North America May 2000Poland's syndrome is characterized by hypoplasia or absence of the breast or nipple, hypoplasia of subcutaneous tissue, absence of the costosternal portion of the... (Review)
Review
Poland's syndrome is characterized by hypoplasia or absence of the breast or nipple, hypoplasia of subcutaneous tissue, absence of the costosternal portion of the pectoralis major muscle, absence of the pectoralis minor muscle, and absence of costal cartilages or ribs 2, 3, and 4 or 3, 4, and 5. Clinical manifestations of Poland's syndrome are extremely variable and rarely are all the features recognized in one individual. Depending on the physician's specialty and the referral pattern, a variable incidence of the anomalous defects is recognized. Syndactyly or bony abnormalities of the forearm are seldom treated by thoracic surgeons.
Topics: Diagnosis, Differential; Humans; Mammaplasty; Orthopedic Procedures; Poland Syndrome; Suture Techniques; Thoracic Surgical Procedures
PubMed: 10803341
DOI: No ID Found -
The Annals of Thoracic Surgery Dec 2002Poland's syndrome is a rare congenital anomaly characterized by unilateral chest wall hypoplasia and ipsilateral hand abnormalities. Literary data suggest its sporadic... (Review)
Review
Poland's syndrome is a rare congenital anomaly characterized by unilateral chest wall hypoplasia and ipsilateral hand abnormalities. Literary data suggest its sporadic nature. The prevailing theory of its cause is hypoplasia of the subclavian artery or its branches, which may lead to a range of developmental changes. The incidence of Poland's syndrome varies between groups (male versus female patients, congenital versus familial cases, and so on) and ranges from 1 in 7,000 to 1 in 100,000 live births. Cases of Poland's syndrome associated with leukemia, carcinoma of the hypoplastic breast, and other conditions, confirm the relationship between developmental defects and tumors, and require oncologic awareness. Various manifestations, age, and gender require different surgical approaches. Our experience, which includes 27 patients (15 male, 12 female), 20 of whom (12 male, 8 female) underwent operation, suggests that the repair should be done in two stages in children and in a single stage in adults. Reconstruction and/or stabilization of the aplastic ribs may be achieved using bone grafts or prosthetic mesh. Muscle flaps and breast implants may be used to correct muscle deficiency and breast hypoplasia and to help achieve a complete cosmetic repair.
Topics: Adult; Child; Female; Hand Deformities, Congenital; Humans; Male; Poland Syndrome; Thoracic Surgical Procedures
PubMed: 12643435
DOI: 10.1016/s0003-4975(02)04161-9 -
The Pan African Medical Journal 2017Poland syndrome is a rare congenital malformation associated with various degrees of thoracic and homolateral upper limb abnormalities. We report the case of a 7-year... (Review)
Review
Poland syndrome is a rare congenital malformation associated with various degrees of thoracic and homolateral upper limb abnormalities. We report the case of a 7-year old girl who underwent exploration for depression of the left hemithorax associated with homolateral subclavicular mass. CT scan showed that the deformation of the thoracic wall was related to the absence of left pectoralis major muscle sterno-costal heads insertion associated with agenesis of the pectoralis minor muscle and hypoplasia of the anterior arches of the first six corresponding ribs. These abnormalities were related to Poland syndrome. General assessment was based on abdominal ultrasound, X-rays of both hands and did not show any associated malformation. Poland syndrome results from a deficit of blood flow to musculoskeletal elements of the chest wall during fetal life. There are many variants of Poland syndrome that can be best detected by CT scan and which must be performed whenever necessary, without omitting the role of general radiology in the detection of associated malformations. This syndrome is characterized by the agenesis of the sternocostal bundles of the pectoralis major muscle. Its etiology remains unknown and discussed. It can be caused by a vascular anomaly, without the primum movens of this vascular anomaly being known.
Topics: Child; Female; Humans; Pectoralis Muscles; Poland Syndrome; Ribs; Thoracic Wall; Tomography, X-Ray Computed; Ultrasonography
PubMed: 28450991
DOI: 10.11604/pamj.2017.26.12.11222 -
The Pan African Medical Journal 2015
Topics: Adolescent; Back Pain; Humans; Male; Poland Syndrome
PubMed: 26587143
DOI: 10.11604/pamj.2015.21.294.7599