Therapeutic advances in rare disease最新文献

{"title":"They've been BITTEN: reports of institutional and provider betrayal and links with Ehlers-Danlos Syndrome patients' current symptoms, unmet needs and healthcare expectations.","authors":"Jennifer Langhinrichsen-Rohling,&nbsp;Chrystal L Lewis,&nbsp;Sean McCabe,&nbsp;Emma C Lathan,&nbsp;Gabrielle A Agnew,&nbsp;Candice N Selwyn,&nbsp;Margaret E Gigler","doi":"10.1177/26330040211022033","DOIUrl":"10.1177/26330040211022033","url":null,"abstract":"<p><strong>Introduction: </strong>Patients with rare and/or care-intensive conditions, such as Ehlers-Danlos Syndrome (EDS), can pose challenges to their healthcare providers (HCPs). The current study used the BITTEN framework¹ to code EDS patients' open-ended written responses to a needs survey to determine their self-reported prevalence of healthcare institutional betrayal and its link with their expressed symptoms, provider perceptions, unmet needs, and on-going healthcare-related expectations.</p><p><strong>Methods: </strong>Patients with EDS (<i>n</i> = 234) were recruited <i>via</i> a rare disease electronic mailing list and snowball sampling. A total of one-hundred and six respondents (45.3%) endorsed having unmet healthcare-related needs; of these, 104 (99%) completed an open-ended prompt about these needs. Responses were coded for components of BITTEN, a framework designed to link patients' past, current, and future healthcare-related experiences in a trauma informed manner.</p><p><strong>Results: </strong>Many respondents with ongoing needs endorsed experiencing past institutional and provider betrayal (43%; <i>n</i> = 45), current mental health symptoms (91.4%; <i>n</i> = 95), negative expectations for future healthcare (40.4%; <i>n</i> = 62), and a lack of trust in their healthcare provider (22.1%; <i>n</i> = 23). There were no significant differences in post-traumatic stress disorder (PTSD)/anxiety, depression/sadness, or isolative symptoms between respondents coded for institutional betrayal (<i>n</i> = 45) compared with those not (<i>n</i> = 59). However, EDS respondents reporting institutional betrayal were significantly more likely to self-report anger and irritability symptoms, a lack of trust in their HCPs, and more negative expectations for future healthcare than those not reporting institutional betrayal.</p><p><strong>Discussion/conclusions: </strong>The frequent spontaneous reporting of past healthcare betrayals among patients with EDS implies the need for trauma-informed care and provider education. Given that experiences of institutional betrayal are associated with increased anger and irritability, as well as with negative expectations for future healthcare interactions, efforts to repair healthcare provider and system-wide relationship ruptures might have positive healthcare consequences.</p><p><strong>Plain language summary: </strong><b>Reports of Institutional and Provider Betrayal and Links with Ehlers-Danlos Syndrome Patients' Current Symptoms, Unmet Needs and Future Healthcare Expectations</b> <b>What is EDS?</b> Ehlers-Danlos Syndrome (EDS) refers to a group of rare genetic connective tissue disorders that are primarily characterized by skin hyperelasticity, joint hypermobility, and tissue fragility. Connective tissue is largely responsible for the structural integrity of our bodies, and there are several EDS subtypes which each describe a specific connective tissue problem. In addition, there is signif","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"2 ","pages":"26330040211022033"},"PeriodicalIF":0.0,"publicationDate":"2021-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/26330040211022033","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9839548","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"IMPACT study: measuring the impact of caregiving on families and healthcare professionals of children and adults living with mucopolysaccharidoses in Ireland.","authors":"Suja Somanadhan,&nbsp;Hannah Bristow,&nbsp;Ellen Crushell,&nbsp;Gregory Pastores,&nbsp;Emma Nicholson,&nbsp;Thilo Kroll,&nbsp;Philip J Larkin,&nbsp;Aoife Brinkley","doi":"10.1177/26330040211020764","DOIUrl":"10.1177/26330040211020764","url":null,"abstract":"<p><strong>Introduction: </strong>Disease trajectories are often uncertain among individuals living with mucopolysaccharidoses (MPS) due to the progressive nature of the illness and the goal of care. This study investigated the impact on caregivers and care providers of children and adults living with MPS.</p><p><strong>Methods: </strong>The study used a cross-sectional design and a convenience sampling strategy which involved two sequential study components. The stage 1 quantitative component included three validated scales: the abbreviated World Health Organization Quality of Life (WHOQOL-BREF), the Paediatric Inventory for Parents (PIP) and the 14-item Resilience Scale (RS-14). The stage 2 qualitative component consisted of two focus groups with healthcare professionals (HCPs) (<i>n</i> = 9) working with children and adults living with MPS across three clinical sites in Ireland. Data were collected between November 2017 and July 2019.</p><p><strong>Results: </strong>A total of 31 parents identified as caregivers participated in this study. The mean quality of life (QoL) score was 93.81, indicating a significantly high QoL. The PIP frequency total mean was 102.74 and difficulty mean 104.94. The mean score for the RS-14 was notably high, 81.42 out of a maximum of 98. The majority of the results showed high levels of concern for the future, with just under 50% finding themselves very often feeling scared that their child's condition will deteriorate or that their child will die and finding these thoughts very difficult. The healthcare professionals' (HCPs) perceptions were focused on the complexity of MPS, coping strategies, managing expectations and support services.</p><p><strong>Conclusion: </strong>The overall findings of the study reinforced the need for sustained and enhanced psychological support to ensure both families of children and adults living with MPS and the HCPs are supported in the continued delivery of quality patient care and outcomes. Subjective and objective measures from family caregivers and HCPs yield results that can decrease stress and improve psychological support.</p><p><strong>Plain language summary: </strong><b>Impact of caregiving on families and healthcare professionals of children and adults living with mucopolysaccharidoses in Ireland</b> Mucopolysaccharidoses (MPS) is a group of one of the many rare inherited metabolic disorders that come under category three of life-limiting conditions. Children born with this genetic condition show no change at birth, but effects start to show in subsequent years as it is a progressive disease. The severity of the condition varies according to the specific type, ranging from very mild symptoms to, in most cases, multisystemic, restricted growth or mental and physical disabilities. Recent developments in treatments for some forms of MPS have dramatically changed the quality of life (QoL) for patients. Other forms of treatment are currently under investigation and development. T","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"2 ","pages":"26330040211020764"},"PeriodicalIF":0.0,"publicationDate":"2021-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/26330040211020764","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10299661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Wiskott-Aldrich syndrome with normal platelet volume in a low-income setting: a case report.","authors":"William Frank Mawalla,&nbsp;Hamisa Iddy,&nbsp;Christine Aloyce Kindole,&nbsp;Ahlam Nasser,&nbsp;Anna Schuh","doi":"10.1177/26330040211009905","DOIUrl":"10.1177/26330040211009905","url":null,"abstract":"<p><p>Wiskott-Aldrich syndrome (WAS) is a rare immunodeficiency X-linked genetic disorder. It is often featured with a clinical triad of thrombocytopenia with low mean platelet volume, eczematoid dermatitis and recurrent infections. The clinical manifestation of WAS, depending on the underlying variant, shows wide heterogeneity. We present a case of a 10-month-old boy who came in with a history of recurrent fever, skin lesions since birth and episodes of bloody diarrhoea. He had severe anaemia and thrombocytopenia (with normal mean platelet volume). Genetic analysis revealed the patient to be hemizygous for a pathogenic WAS gene splice variant (NM_000377.2:c.360+1G>A). He was managed with supportive treatment and regular follow up, but died 4 months later. As it is a rare genetic disease, the diagnosis of WAS can easily be missed, especially in settings with scarce healthcare resources that do not have easy access to genetic testing. Thus, a high index of suspicion is needed when a male child presents with recurrent infections and bleeding tendencies.</p><p><strong>Plain language summary: </strong>Management challenges of a rare genetic disorder in a resource-limited country: a case report of Wiskott-Aldrich syndrome in TanzaniaWiskott-Aldrich syndrome (WAS) is a rare inherited disease that mainly affects boys. Patients will typically present with low levels of a single line of little particles of cells that clot the blood called platelets, whole-body skin rashes and recurrent infections. Nevertheless, the clinical presentation can vary between individuals. We present a case of a 10-month-old boy who came in with a history of recurrent fever, skin rash since birth and episodes of bloody diarrhoea. He had very low levels of red blood cells and platelets. Genetic analysis confirmed the patient to have WAS. He was managed with supportive treatment, followed up on a regular clinic but unfortunately died 4 months later. Being a rare genetic disease, the diagnosis of WAS can easily be missed, especially in regions with scarce healthcare resources that do not have easy access to genetic testing. Thus, doctors should suspect WAS in boys presenting with recurrent infections and bleeding problems.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"2 ","pages":"26330040211009905"},"PeriodicalIF":0.0,"publicationDate":"2021-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/26330040211009905","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9468604","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A challenging start but a bright future.","authors":"Tiina Urv","doi":"10.1177/26330040211010660","DOIUrl":"10.1177/26330040211010660","url":null,"abstract":"","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"2 ","pages":"26330040211010660"},"PeriodicalIF":0.0,"publicationDate":"2021-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/26330040211010660","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9815954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Keratoconus: cross-linking the window of the eye.","authors":"Sally Hayes,&nbsp;Siân R Morgan,&nbsp;Keith M Meek","doi":"10.1177/26330040211003573","DOIUrl":"10.1177/26330040211003573","url":null,"abstract":"<p><p>Keratoconus is a condition in which the cornea progressively thins and weakens, leading to severe, irregular astigmatism and a significant reduction in quality of life. Although the precise cause of keratoconus is still not known, biochemical and structural studies indicate that overactive enzymes within the cornea break down the constituent proteins (collagen and proteoglycans) and cause the tissue to weaken. As the disease develops, collagen fibres slip past each other and are redistributed across the cornea, causing it to change shape. In recent years, it was discovered that the photochemical induction of cross-links within the corneal extracellular matrix, through the use of riboflavin and ultraviolet (UVA) light, could increase the strength and enzymatic resistance of the tissue and thereby halt keratoconus progression. Worldwide acceptance and use of riboflavin/UVA corneal cross-linking therapy for halting keratoconus progression has increased rapidly, in accordance with the growing body of evidence supporting its long-term effectiveness. This review focusses on the inception of riboflavin/UVA corneal cross-linking therapy for keratoconus, its clinical effectiveness and the latest scientific advances aimed at reducing patient treatment time, improving patient comfort and increasing patient eligibility for treatment.</p><p><strong>Plain language summary: </strong><b>Review of current treatments using cross-linking to halt the progress of keratoconus</b> Keratoconus is a disease in which the curved cornea, the transparent window at the front of the eye, weakens, bulges forward into a cone-shape and becomes thinner. This change of curvature means that light is not focussed onto the retina correctly and vision is progressively impaired. Traditionally, the effects of early keratoconus were alleviated by using glasses, specialist contact lenses, rings inserted into the cornea and in severe cases, by performing a corneal transplant. However, it was discovered that by inducing chemical bonds called cross-links within the cornea, the tissue could be strengthened and further thinning and shape changes prevented. The standard cross-linking procedure takes over an hour to perform and involves the removal of the cells at the front of the cornea, followed by the application of Vitamin B2 eye drops and low energy ultraviolet light (UVA) to create new cross-links within the tissue. Clinical trials have shown this standard procedure to be safe and effective at halting keratoconus progression. However, there are many treatment modifications currently under investigation that aim to reduce patient treatment time and increase comfort, such as accelerated cross-linking procedures and protocols that do not require removal of the surface cells. This review describes the different techniques being developed to carry out corneal cross-linking efficiently and painlessly, to halt keratoconus progression and avoid the need for expensive surgery.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"2 ","pages":"26330040211003573"},"PeriodicalIF":0.0,"publicationDate":"2021-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/26330040211003573","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10296940","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel therapeutics in nystagmus: what has the genetics taught us so far?","authors":"Jay E Self,&nbsp;Helena Lee","doi":"10.1177/2633004021998714","DOIUrl":"10.1177/2633004021998714","url":null,"abstract":"<p><p>Nystagmus is a disorder characterised by uncontrolled, repetitive, to-and-fro movement of the eyes. It can occur as a seemingly isolated disorder but is most commonly the first, or most obvious, feature in a host of ophthalmic and systemic disorders. The number of underlying causes is vast, and recent improvements in the provision of genetic testing have shown that many conditions can include nystagmus as a feature, but that phenotypes overlap significantly. Therefore, an increase in the understanding of the genetic causes of nystagmus has shown that successful novel therapeutics for 'nystagmus' can target either specific underlying disorders and mechanisms (aiming to treat the underlying condition as a whole), or a final common pathway (aiming to treat the nystagmus directly).</p><p><strong>Plain language summary: </strong><b>Novel treatments for a disorder of eye movement (nystagmus): what has the genetics taught us so far?</b> Nystagmus is a disorder of eye movement characterised by uncontrolled, to-and-fro movements. It can occur as an isolated disorder, in conditions affecting other parts of the eye, in conditions affecting multiple other parts of the body or secondary to neurological diseases (brain diseases). In recent years, advances in genetic testing methods and increase in genetic testing in healthcare systems have provided a greater understanding of the underlying causes of nystagmus. They have highlighted the bewildering number of genetic causes that can result in what looks like a very similar eye movement disorder.In recent years, new classes of drugs have been developed for some of the causes of nystagmus, and some new drugs have been developed for other conditions which have the potential to work in certain types of nystagmus. For these reasons, genetics has taught us that identifying new possible treatments for nystagmus can either be dependent on identifying the underlying genetic cause and aiming to treat that, or aiming to treat the nystagmus <i>per se</i> by targeting a final common pathway. A toolkit based on specific treatments for specific conditions is more to have meaningful impact on 'nystagmus' than pursuing a panacea based on a 'one size fits all' approach.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"2 ","pages":"2633004021998714"},"PeriodicalIF":0.0,"publicationDate":"2021-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/2633004021998714","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9766518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Animal and cellular models of microphthalmia.","authors":"Philippa Harding,&nbsp;Dulce Lima Cunha,&nbsp;Mariya Moosajee","doi":"10.1177/2633004021997447","DOIUrl":"10.1177/2633004021997447","url":null,"abstract":"<p><p>Microphthalmia is a rare developmental eye disorder affecting 1 in 7000 births. It is defined as a small (axial length ⩾2 standard deviations below the age-adjusted mean) underdeveloped eye, caused by disruption of ocular development through genetic or environmental factors in the first trimester of pregnancy. Clinical phenotypic heterogeneity exists amongst patients with varying levels of severity, and associated ocular and systemic features. Up to 11% of blind children are reported to have microphthalmia, yet currently no treatments are available. By identifying the aetiology of microphthalmia and understanding how the mechanisms of eye development are disrupted, we can gain a better understanding of the pathogenesis. Animal models, mainly mouse, zebrafish and <i>Xenopus</i>, have provided extensive information on the genetic regulation of oculogenesis, and how perturbation of these pathways leads to microphthalmia. However, differences exist between species, hence cellular models, such as patient-derived induced pluripotent stem cell (iPSC) optic vesicles, are now being used to provide greater insights into the human disease process. Progress in 3D cellular modelling techniques has enhanced the ability of researchers to study interactions of different cell types during eye development. Through improved molecular knowledge of microphthalmia, preventative or postnatal therapies may be developed, together with establishing genotype-phenotype correlations in order to provide patients with the appropriate prognosis, multidisciplinary care and informed genetic counselling. This review summarises some key discoveries from animal and cellular models of microphthalmia and discusses how innovative new models can be used to further our understanding in the future.</p><p><strong>Plain language summary: </strong><b>Animal and Cellular Models of the Eye Disorder, Microphthalmia (Small Eye)</b> Microphthalmia, meaning a small, underdeveloped eye, is a rare disorder that children are born with. Genetic changes or variations in the environment during the first 3 months of pregnancy can disrupt early development of the eye, resulting in microphthalmia. Up to 11% of blind children have microphthalmia, yet currently no treatments are available. By understanding the genes necessary for eye development, we can determine how disruption by genetic changes or environmental factors can cause this condition. This helps us understand why microphthalmia occurs, and ensure patients are provided with the appropriate clinical care and genetic counselling advice. Additionally, by understanding the causes of microphthalmia, researchers can develop treatments to prevent or reduce the severity of this condition. Animal models, particularly mice, zebrafish and frogs, which can also develop small eyes due to the same genetic/environmental changes, have helped us understand the genes which are important for eye development and can cause birth eye defects when disrupted. Study","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"2 ","pages":"2633004021997447"},"PeriodicalIF":0.0,"publicationDate":"2021-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/2633004021997447","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10290143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Understanding the perspective of patients with pulmonary arterial hypertension: looking beyond health-related quality of life.","authors":"Aldo Aguirre-Camacho","doi":"10.1177/2633004020986166","DOIUrl":"10.1177/2633004020986166","url":null,"abstract":"","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"2 ","pages":"2633004020986166"},"PeriodicalIF":0.0,"publicationDate":"2021-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/2633004020986166","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9839553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Therapeutic and diagnostic advances in Stickler syndrome.","authors":"Martin Snead,&nbsp;Howard Martin,&nbsp;Peter Bale,&nbsp;Nick Shenker,&nbsp;David Baguley,&nbsp;Philip Alexander,&nbsp;Annie McNinch,&nbsp;Arabella Poulson","doi":"10.1177/2633004020978661","DOIUrl":"10.1177/2633004020978661","url":null,"abstract":"<p><p>The Stickler syndromes are the leading cause of inherited retinal detachment and the most common cause of rhegmatogenous retinal detachment in childhood. The clinical and molecular genetic spectrum of this connective tissue disorder is discussed in this article, emphasising the key role the ophthalmologist has to play in the identification, diagnosis and prevention of blindness in the increasingly widely recognised sub-groups with ocular-only (or minimal systemic) involvement. Without diagnosis and prophylaxis in such high-risk subgroups, these patients are at high risk of Giant Retinal Tear detachment and blindness, especially in the paediatric population, where late or second eye involvement is common. Initially considered a monogenic disorder, there are now known to be at least 11 distinct phenotypic subgroups in addition to allied connective tissue disorders that can present to the clinician as part of the differential diagnosis.</p><p><strong>Plain language summary: </strong><b>Treatment and diagnostic advances in Stickler syndrome</b> The Stickler syndromes are a group of related connective tissue disorders that are associated with short-sight and a very high risk of blindness from detachment of the retina - the light sensitive film at the back of the eye. Other features include cleft palate, deafness and premature arthritis. It is the most common cause of retinal detachment in children and the most common cause of familial or inherited retinal detachment. In contrast to most other forms of blinding genetic eye disease, blindness from retinal detachment in Stickler syndrome is largely avoidable with accurate diagnosis and prophylactic (preventive) surgery. Recent advances in the understanding of the genetic causes of Stickler syndrome mean that the diagnosis can now be confirmed in over 95% of cases and, most importantly, the patient's individual risk of retinal detachment can be graded. Preventative surgery is hugely effective in reducing the incidence of retinal detachment in those patients shown to be at high risk. NHS England have led the way in the multidisciplinary care for patients with Stickler syndrome by launching a highly specialist service that has been free at point of care to all NHS patients in England since 2011 (https://www.england.nhs.uk/commissioning/spec-services/highly-spec-services, www.vitreoretinalservice.org).</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"1 ","pages":"2633004020978661"},"PeriodicalIF":0.0,"publicationDate":"2020-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/2633004020978661","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9839021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Conservative management of a fourth ventricular epidermoid in a patient with Gardner syndrome.","authors":"Gordon D Heller","doi":"10.1177/2633004020969702","DOIUrl":"10.1177/2633004020969702","url":null,"abstract":"<p><p>Gardner Syndrome is a rare disease with clinical manifestations of familial intestinal polyposis with osteomas. Cutaneous and subcutaneous lesions are common and epidermoid cyst is a characteristic dermatologic finding. This case report presents a novel finding of an intracranial epidermoid situated in the fourth ventricle in a patient with Gardner Syndrome. This intracranial epidermoid has been followed with sequential magnetic resonance imaging (MRI) for 10 years with progressive growth of the lesion. This suggests the conservative management is an option in patients with an enlarging epidermoid cyst in the fourth ventricle.</p><p><strong>Plain language summary: </strong><b>Non-operative treatment of a cyst in the brain in a syndrome called Gardner syndrome.</b> <b>What is Gardner syndrome?</b> Gardner syndrome is a rare disease and form of familial adenomatous polyposis (FAP) that is characterized by multiple small growths of cells (polyps) in the colon and various types of tumors, both noncancerous (benign) and cancerous (malignant). It is caused by changes (mutations) in the APC gene. Abnormal changes on the skin and under the skin are common as well as growths called epidermoid cysts. The cysts develop when cells that are meant to become skin, hair, and nails (epithelial cells) are trapped among the cells that form the brain. Epidermoid brain cysts may be diagnosed by magnetic resonance imaging (MRI) and computerized tomography (CT) scans. Typical treatment usually involves surgery. <b>What was the aim of this case report?</b> To present a different management strategy for patients with Gardner Syndrome with epidermoid brain cysts. <b>How was this patient treated?</b> This patient is the first patient with Gardner Syndrome with a very rare epidermoid brain cyst reported to be treated in a conservative manner.The patient was monitored for 10 years with regular MRI scans and the cyst continued to grow over this time.Despite this growth the patient has shown no signs of a buildup of fluid in the cavities deep within the brain (called hydrocephalus).The patient experienced nonfocal headaches, which were relieved with medication so doctors decided not to surgically remove the cyst. <b>Why is this case important?</b> Conservative management of epidermoid brain cysts in Gardner patients has not been reported before. This case report shows that conservative management may be an alternative option for patients with a growing epidermoid cyst in the fourth ventricle of the brain. Conservative treatment is designed to avoid invasive treatments or surgery and provides a different option for patients who are unable to have surgery.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"1 ","pages":"2633004020969702"},"PeriodicalIF":0.0,"publicationDate":"2020-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/2633004020969702","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9822297","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}