Primary Right Atrial Cardiac Angiosarcoma in Patient With Poland Syndrome: Case Report and Review of the Literature.

This article presents the case of a 24-year-old woman with Poland syndrome who developed primary right atrial cardiac angiosarcoma. The patient presented to the hospital with dyspnea and chest pain, and imaging studies revealed a large mass attached to the right atrium. Urgent surgery was performed to remove the tumor, and the patient underwent adjuvant chemotherapy afterward. Follow-up exams showed no signs of the tumor or any complications from treatment. Poland syndrome is a rare congenital disorder characterized by the absence of unilateral large pectoral muscle, ipsilateral symbrachydactyly, and other malformations of the anterior chest wall and breast. Although the condition does not predispose patients to malignancy, different pathologies can be seen in these patients due to the unknown etiology of the syndrome. Primary right atrial cardiac angiosarcoma is a rare malignancy, and its coexistence with Poland syndrome has not been well established in the literature. This case report highlights the need to consider cardiac angiosarcoma as a possible diagnosis in patients with Poland syndrome who present with cardiac symptoms.

A rare coexistence: Poland's syndrome and cardiac angiosarcoma.

Poland's syndrome, a rare genetic disorder that accompanies malignancies, musculoskeletal disorders, cardiac and genitourinary syndromes. There is no study that represents the association between cardiac angiosarcoma and Poland's syndrome. A 24-year-old female patient previously diagnosed with Poland's syndrome was admitted to our hospital complaining of dyspnea. Diagnostic imaging showed an irregular mass in the right atrial cavity. After successful surgery, she was discharged uneventfully and the 3rd month oncologic follow-up reveals none of residual mass. The coexistence has not been diagnosed and treated in a cardiac surgery department before. With this presentation, we aimed to contribute to the literature with this presentation, for the right and early diagnosis and management of possible new cases in the future can be diagnosed and treated correctly and early.

Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review.

BACKGROUND: Möbius (Moebius) and Poland's syndromes are two rare congenital syndromes characterized by non-progressive bilateral (and often asymmetric) dysfunction of the 6th and 7th 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.

Poland's syndrome mimicking traumatic chest injury.

Poland's syndrome (PS) is a rare developmental anomaly that can manifest mild (pectoralis muscles involvement) to severe deformities (rib hypoplasia and hand deformities). We report a case of 69-year-old man who presented to the emergency department with a traumatic chest injury after a fall. It was initially thought to have a significant chest injury as the trauma survey revealed a palpable defect and tenderness in the right anterior chest wall. There was also a symbrachydactyly deformity in the right hand. CT of the chest showed lack of right pectoralis muscles, which were consistent with PS. This case highlights the importance of gathering detail history in adult trauma patients such as congenital disorder especially in the presence of bony deformity. With possibilities of several traumatic conditions in trauma patients eliminated, one can expand the non-traumatic differential, keeping in mind the possibility of a congenital disorder that can mimic traumatic chest injury.

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).

BACKGROUND: Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals. MAIN BODY: The aim of this work is to provide recommendations for the diagnosis and management of people affected by Poland syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years affected subjects. The literature search was performed in the second half of 2019. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus. CONCLUSION: Being Poland syndrome a rare syndrome most recommendations here presented are good clinical practice based on the consensus of the participant experts.

Síndrome de Poland: reporte de un caso / Poland syndrome. Report of a case

Introducción: el síndrome de Poland es un trastorno congénito raro que se caracteriza por la ausencia o hipoplasia unilateral del musculo pectoral mayor asociado a malformaciones en la extremidad superior y tejido mamario ipsilateral. Las manifestaciones clínicas en los recién nacidos solamente se describen en la literatura, por lo tanto, muchos aspectos de su presentación en las guarderías son ignoradas. Presentación del caso: presentamos el caso de un recién nacido que manifiesta una respiración paradójica desde el momento del nacimiento. Este tipo de hallazgo clínico esta vagamente descrito en el Síndrome de Poland y menos aún en el periodo neonatal. Discusión: este síndrome puede verse relacionado con enfermedades, como parálisis de los pares VI y VII, lo que conlleva a un mayor número de asociaciones complejas. Se plantea asociado a dextrocardia, que según algunos autores es secundaria a la deformidad torácica producida por malformaciones costales y su efecto sobre la formación cardíaca en el periodo embrionario. No se han observado deficiencias mentales ni trasmisión genética de la enfermedad. Se ha descrito de forma excepcional, asociación familiar. Esto podía corresponder a una herencia autosómica dominante con penetración reducida. Conclusiones: en este paciente el síndrome de Poland se caracterizó por una hipoplasia del pectoral mayor izquierdo, asociado a malformaciones esqueléticas de la mano del mismo lado(AU)

Introduction: Poland syndrome is a rare congenital disorder characterized by the unilateral absence or hypoplasia of the pectoralis major muscle associated with malformations of the upper limb and ipsilateral breast tissue. Clinical manifestations in newborns are only described in the literature, therefore, many aspects of their presentation in nurseries are ignored. Presentation of the case: we present the case of a newborn who manifests paradoxical respiration from the moment of birth. This type of clinical finding is loosely described in Poland Syndrome and even less in the neonatal period. Discussion: this syndrome can be related to diseases, such as paralysis of pairs VI and VII, which leads to a greater number of complex associations. It arises in association with dextrocardia, which according to some authors is secondary to the thoracic deformity caused by malformations ribs and their effect on cardiac formation in the embryonic period. No mental deficiencies or genetic transmission of the disease have been observed. An exceptional family association has been described. This could correspond to an autosomal dominant inheritance with reduced penetration. Conclusions: in this patient, Poland syndrome was characterized by hypoplasia of the left pectoralis major, associated with skeletal malformations of the hand on the same side(EU)

Experiences of patients with Poland syndrome of diagnosis and care in Italy: a pilot survey.

BACKGROUND: Poland Syndrome (PS) is a rare congenital malformation involving functional and aesthetic impairments. Early diagnosis and timely therapeutic approaches play an important role in improving the quality of life of patients and kindred. This study aims to explore healthcare experiences of the diagnosis of patients affected by PS and to investigate the factors associated with diagnostic delay in Italy. RESULTS: Seventy-two patients affected by PS were asked to fill in a self- administered questionnaire on: a) diagnostic path; b) perceived quality of care received after diagnosis; c) knowledge of the rights and the socio-economic hardships related to their disease; d) evaluation of the integration of various professional skills involved in the diagnostic and therapeutic approach; e) perception of the social support provided by the Italian Association of Poland Syndrome (AISP). The average age at diagnosis was around 14 years; diagnosis was made at birth in only 31.58% of cases. Although typical symptomatology had appeared on average at an early age (4 months), only 23 patients (40.35%) received an early diagnosis (within the first year of life). Just over half of the patients (n = 30) were diagnosed in their region of origin, while 27 were diagnosed elsewhere. Furthermore, 12.28% were self-diagnoses. Among the patients who were diagnosed outside their region, 15 (88.24%) stated they had foregone some visits or treatments owing to costs and/or organizational issues. CONCLUSIONS: An analysis of the patients' experiences highlights several gaps and a lack of homogeneity in the diagnostic and therapeutic follow-up of PS patients in Italy. A specific national diagnostic and therapeutic path is essential to guarantee patients complete and appropriate health services, compliant with the ethical principles of non-discrimination, justice and empathy. Implementation of an effective information and research network and empowerment of patients' associations are necessary conditions to encourage clinical collaboration and improve the quality of life of people living with rare diseases.

Anomalía de Poland, a propósito de dos casos / Poland anomaly, about two cases

Introducción: el síndrome de Poland, conocido también como secuencia de Poland o anomalía de Poland, fue descrito por primera vez por Alfred Poland en 1841. Corresponde a una alteración musculoesquelética congénita, caracterizada por la ausencia total o parcial del músculo pectoral mayor, asociada a anormalidades de la extremidad superior ipsilateral. Objetivo: se presentan 2 casos de niñas que consultaron por asimetría mamaria, en el primer caso una niña de 12 años con ausencia del pectoral mayor y antecedente de postquirúrgicos sindactilia de mano derecha ipsilateral. El segundo caso, una niña de 9 años con asimetría mamaria sin alteración en la extremidad. Conclusión: la anomalía de Poland o secuencia de Poland es una alteración musculoesquelética de presentación infrecuente, de aparición esporádica, de mayor prevalencia en masculinos, afecta generalmente el lado derecho del cuerpo, muy pocas veces amerita tratamiento quirúrgico

Introduction: Poland syndrome, also known as Poland sequence or Poland anomaly, was first described by Alfred Poland in 1841. It corresponds to a congenital musculoskeletal disorder, characterized by the total or partial absence of the major pectoral muscle associated with limb abnormalities ipsilateral superior. Objective: There are 2 cases of girls who consulted for breast asymmetry, in the first case a 12-year-old girl with absence of the pectoralis major and a history of post-surgical syndactyly of the right ipsilateral hand, the second case a 9-year-old girl with breast asymmetry without limb alteration Conclusion: The anomaly of Poland or sequence of Poland is a musculoskeletal alteration with an infrequent presentation, of sporadic appearance, more frequent in males, 10 frequently affecting the right side of the body, very rarely merits surgical treatment.

Breast Reconstruction in Poland Syndrome Patients with Latissimus Dorsi Myo Flap and Implant: An Efficient Endoscopic Approach Using Single Transverse Axillary Incision.

BACKGROUND: Breast hypoplasia or amastia with pectoralis major muscle defect in female Poland syndrome patients always necessitates surgical intervention. This study aims to introduce an efficient endoscopic technique to perform breast reconstruction in Poland syndrome patients with a latissimus dorsi myo flap and an implant using a single transverse axillary incision (ELDM + IMPLANT) and to evaluate its safety and effectiveness. METHODS: A prospective study was designed to recruit Poland syndrome candidates for ELDM + IMPLANT breast reconstruction. Only one transaxillary incision was made to harvest the LDM flap and create the anterior chest wall pocket. The LDM flap was transposed to the front to reconstruct the breast with a silicone implant. Patient demographics, LDM area, implant size, contralateral symmetry surgery, operative time and post-operative complications were collected. The BREAST-Q reconstruction module was used to evaluate patient quality of life. The disabilities of the arm, shoulder and hand (DASH) outcome questionnaire was used to evaluate patient upper extremity disabilities. RESULTS: Sixteen eligible patients were recruited and received ELDM + IMPLANT-BR. Mean endoscopic time for LDM flap harvesting was 61.6 min. All of the 16 patients recovered uneventfully without any significant complications. The post-operative scores of satisfaction with breast and psychosocial well-being were significantly higher than the pre-operative ones. The score of DASH was 7.1 pre-operatively and 8.3 post-operatively with no significant difference either. The score of satisfaction with outcome was 80.0. CONCLUSIONS: Our proposed ELDM + IMPLANT technique provides a safe and efficient way to reconstruct breasts in Poland syndrome patients with a high satisfaction rate, optimized aesthetic outcome and minimized donor site morbidity. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these evidence-based medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Clinical characteristics of Poland's syndrome associated with breast cancer: Two case reports and a literature review.

Poland's syndrome is a rare congenital malformation that is characterized by a congenital defect of the pectoralis major. It is associated with various ipsilateral upper extremity anomalies and homolateral breast hypoplasia. There have been reports of Poland's syndrome being associated with different malignancies. Here, we report two cases of Poland's syndrome associated with breast cancer (BC) and review the literature. To date, 21 cases (including our two cases) of Poland's syndrome associated with BC have been reported. The clinical characteristics of the disease are analyzed in this report.

The value of full-body skin examination: Poland syndrome diagnosed as an incidental finding.

Poland syndrome is a rare congenital disorder characterized by agenesis of the pectoralis major muscle. It is generally unilateral, right-sided, and can be associated with a myriad of thoracic and upper limb defects. Knowledge of this disorder can lead the astute clinician to prompt diagnosis and referral to surgical specialists for further workup. Surgery is often performed for either esthetic or functional concerns.