scholarly journals The Risk of Thrombotic Events in Anetoderma Affecting Young Patients

2021 ◽  
Vol 6 (2) ◽  
pp. 120-122
Author(s):  
Anca E. Chiriac ◽  
Mircea Betiu ◽  
Cristian Podoleanu ◽  
Simona Stolnicu
Keyword(s):  
Skin Disease ◽  
Young Patients ◽  
Skin Lesions ◽  
Young Person ◽  
Elastic Fibers ◽  
Thromboembolic Events ◽  
Focal Injury

Abstract Anetoderma is a rare skin disease, and its associated risk of thromboembolic events is unknown. Anetoderma is characterized by focal injury of elastic fibers in the dermis, clinically expressed by atrophic skin lesions. We report the case of a young person with anetoderma, drawing attention to the risk of associated thromboembolic peril.

Youth mental health competencies in regional general practice

2020 ◽  
pp. 103985622097005
Author(s):  
Oliver Smith ◽  
Jessica Bergmann ◽  
Ulrich Schall
Keyword(s):  
Mental Health ◽  
Young People ◽  
Mental Health Problem ◽  
Health Problem ◽  
Mental Health Problems ◽  
Young Patients ◽  
Youth Mental Health ◽  
Young Person ◽  
Health Issues ◽  
Hunter Region

Objective: General practitioners (GPs) are key health professionals for referrals to mental health specialists. Youth mental health issues are particularly challenging, requiring a competent assessment and understanding of appropriate referral pathways. We surveyed local GPs about their understanding of youth mental health problems and needs to competently look after young patients. Methods: GPs working in the Hunter region were contacted via email, fax and post over a 6-month period in 2019. Results: Seventy-five GPs participated. They reported 577 of 1698 (34%) of young people seen 2 weeks prior to being surveyed presented with a mental health problem. Predominantly, referrals were to private practice psychologists and Headspace. Almost a third (31%) reported having limited understanding of ‘at-risk mental state’ and are ‘not always comfortable’ when facing a young person with a mental health problem. Nearly all (95%) expressed interest in attending specialised training. GPs identified treatment costs, scarce access to psychiatrists and limited patient engagement as the main obstacles to help young people. Conclusions: Effective treatment of a mental health problem relies on early identification. GPs are seeing young people on a regular basis but don’t feel well equipped for this task and are keen to up-skill, which needs to be addressed by targeted training.

The protean phenotype of MSH6 pathogenic variants (PV) in Lynch syndrome (LS) patients (pts).

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10537-10537
Author(s):  
Michelle J McSweeny ◽  
Susan Montgomery ◽  
Kristen Danielle Whitaker ◽  
Mary Beryl Daly ◽  
Michael J. Hall
Keyword(s):  
Skin Disease ◽  
Early Onset ◽  
Skin Lesions ◽  
Published Data ◽  
Pedigree Data ◽  
Skin Manifestations ◽  
Pathogenic Variants ◽  
Ca 50 ◽  
Uncertain Variant ◽  
Histologic Types

10537 Background: LS is among the most common hereditary cancer (CA) syndromes. PVs in MSH6 are 2-4 fold more common in the population (1/758) than those in MLH1 (1/1946) or MSH2 (1/2841), and are increasingly regarded as lower penetrance for CRC due to published data supporting later mean age of CRC onset and lower CRC risk. Unlike for MLH1/MSH2, NCCN 2020 CA risk estimates recognize only endometrial CA (EC) and CRC risks in MSH6+ carriers as clearly above SEER population estimates. Further, risks of other LS manifestations such as skin disease/Muir-Torre, ovarian CA (OC), and possible rare tumors in LS like sarcoma, have been minimally characterized in MSH6+ carriers. Methods: Pedigree data for 44 MSH6+ index (first-evaluated family member by our program) pts consecutively ascertained since 2009 at Fox Chase (FCCC) were reviewed. 1 pt w/a rare MSH6 uncertain variant w/personal history (PHx) of MSH6-expression deficient EC (age 50) and MSH6-deficient sebaceous skin CA (age 50) and a strong family history (FHx) c/w LS is also included here. 34% (15/44) index pts were referred to FCCC for cascade testing due to a known MSH6 PV in the family. Of the remaining 29 index pts, ascertainment included: 14% w/positive universal LS tumor screening, 21% w/early-onset or synchronous LS CA, 14% w/multi-gene panel for PHx of OC, 10% w/incidental MSH6+ result (2 had testing for PHx breast CA, 1 tumor genomic profiling), and 28% w/PHx and/or FHx of LS CA warranting genetic testing. Age of CA onset and path data were verified in > 90% index pts. Results: Index pts had a mean age of 55.5 yrs, and 77% were female. Overall, 11% (5/44) of MSH6+ index pts were found to have LS at diagnosis of synchronous primary CAs (3 EC/OC, 1 CRC/CRC, 1 CRC/EC), and 4/5 of these occurred <50 yrs. An additional 20% (9/44) index pts reported PHx of >2 metachronous LS CAs. OC was the presenting CA in 14% (6/44) female index pts; 2 additional index pts had rarer OC variants (Mullerian duct @ 41, primary peritoneal CA @ 50). Skin manifestations of LS were documented in 9.1% (4/44) index pts (3 sebaceous, 1 SCC in-situ/Bowen’s disease); 1 other family had documented sebaceous CAs in an FDR (father) but the 2 daughters seen @FCCC (both 30s) had yet to develop skin lesions. 2 index pts were found to have LS after developing early-onset breast CA (age 39) and contralateral breast CA (ages 50 and 54). Finally, 7% (3/44) index pts had a PHx of sarcoma: 2 were liposarcomas (ages 57 and 67), and 1 was a dermatofibrosarcoma. 2 other index pts had siblings w/childhood sarcomas. Conclusions: Our data, encompassing 44 MSH6+ pts evaluated in our clinic and consecutively ascertained, suggest MSH6 PV carriers develop synchronous primaries (11%), common and rare OC histologic types (18%), sarcomas (7%) and skin disease/Muir-Torre (9%). While common in the population and lower penetrance for CRC, MSH6 PV can behave in uncommon ways and may have significant extra-colonic CA risks such as OC, sarcoma and skin manifestations.

Chromoblastomycosis in two giant ditch frogs also known as mountain chicken frogs (Leptodactylus fallax)

2019 ◽  
Vol 7 (3) ◽  
pp. e000691
Author(s):  
Martina Croci ◽  
Stefanie Klausmann ◽  
Jean-Michel Hatt ◽  
Sarah Schmitt ◽  
Monika Hilbe
Keyword(s):  
Sudden Death ◽  
Skin Disease ◽  
Fungal Pathogen ◽  
Systemic Disease ◽  
Skin Lesions ◽  
Post Mortem ◽  
Human Beings ◽  
Skeletal Musculature ◽  
Chronic Skin ◽  
Chronic Skin Disease

Because of sudden death of several frogs following the renewal of a terrarium, two giant ditch frogs (Leptodactylus fallax) were submitted for post-mortem examination. The animals displayed extensive erythematous to ulcerative skin lesions as well as multiple granulomas in the liver, kidney and skeletal musculature. In skin lesions as well as in the brownish granulomas, pigmented fungal sclerotic bodies were found in addition to pigmented hyphal structures, though less common. The fungal pathogen, although not further classified in this study was identified as the etiological agent for chromoblastomycosis (synonym: chromomycosis), a leading cause of fatal systemic disease in poikilothermic animals. It is also a cause of chronic skin disease in human beings and therefore a potential zoonotic agent.

scholarly journals Hybrid Clinical and Histopathological Pattern in Annular Lesions: An Overlap between Annular Elastolytic Giant Cell Granuloma and Granuloma Annulare?

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
Felipe Ladeira de Oliveira ◽  
Luisa Kelmer Côrtes de Barros Silveira ◽  
Alice de Miranda Machado ◽  
José Augusto da Costa Nery
Keyword(s):  
Diabetes Mellitus ◽  
Case Report ◽  
Giant Cell ◽  
Clinical Features ◽  
Skin Disease ◽  
Granuloma Annulare ◽  
Elastic Fibers ◽  
Giant Cell Granuloma ◽  
Endocrine Disease ◽  
Annular Lesions

Annular elastolytic giant cell granuloma (AEGCG) is a rare granulomatous skin disease of unclear pathogenesis which belongs to the group of disorders in the skin and elastic fibers with similar clinical features of granuloma annulare (GA). This case report is intended to describe a rare hybrid pattern in histopathology demonstrating coexistence of AEGCG and GA. An endocrine disease, such as diabetes mellitus (DM), could contribute to the coexistence of both lesions, and this possibility must be included in the medical investigation.

scholarly journals The level of acceptance of the illness among patients with psoriasis

2020 ◽  
Vol 66 (3) ◽  
Author(s):  
Kinga Budzińska ◽  
Marta Kożybska ◽  
Paulina Zabielska ◽  
Anna Knyszyńska ◽  
Joanna Pierzak-Sominka ◽  
...  
Keyword(s):  
Body Image ◽  
Skin Disease ◽  
Self Esteem ◽  
Skin Lesions ◽  
The Other ◽  
The Internet ◽  
Great Level ◽  
Factors Affecting ◽  
Acceptance Of Illness ◽  
Psoriatic Lesions

Introduction: Psoriasis is a chronic inflammatory and non-infectious skin disease. It is one of the most common dermatoses. Increased reproduction of the epidermis and, as a consequence, visible skin lesions negatively affect the patient's psyche, disrupt self-esteem, reducing the chance of accepting the disease and a normal life.The aim of this study was the assessment of the level of acceptance of the illness and identification of factors affecting its acceptance among patients with psoriasis.Materials and methods: The study involved 132 individuals, comprising 113 women and 19 men. This survey-based study was conducted via the Internet using the author's questionnaire and the Acceptance of Illness Scale (AIS).Results: Acceptance of the illness level was rated great and moderate by respectively 43.9% and 39.4% of respondents. Over 66.7% of the patients described their self-esteem as high obtained a great level of acceptance of the illness according to the AIS. In the examined group, 58% of the patients not accepted psoriatic lesions on their body. Over 60% of the respondents experienced negative reactions from society regarding the disease, and almost 50% of them experienced other people’s reactions resulting from concerns about contracting the disease; these patients obtained lower AIS scores.Conclusions: The obtained results indicate a great illness acceptance among the examined group of the patients with psoriasis. The level of acceptance was influenced by the patient’s self-esteem in relation to the disease, acceptance of their own body image, altered by the disease, experiencing the negative reactions from the society regarding the disease, and the reactions of the other people resulting from concerns about contracting the disease.

Extra-articular manifestations: psoriasis

2016 ◽  
Author(s):  
Wolf-Henning Boehncke ◽  
Dafna D. Gladman
Keyword(s):  
Psoriatic Arthritis ◽  
Skin Disease ◽  
Genetic Research ◽  
Skin Lesions ◽  
World Health ◽  
Current Status ◽  
Inflammatory Skin Disease ◽  
Psychosocial Burden ◽  
The World ◽  
Underlying Pathogenesis

Psoriasis is a chronic, recurrent inflammatory skin disease, affecting about 2% of the world’s population. In 2014, the World Health Organization’s member states adopted a resolution on psoriasis, recognizing it as ‘a chronic, non-communicable, painful, disfiguring, and disabling disease for which there is no cure’. The resolution acknowledges the psychosocial burden of the disease and that many people with psoriasis suffer due to lack of awareness and access to sufficient treatment. Psoriasis is a multifaceted disease including not only a variety of skin lesions, but also joint manifestations and comorbidities. This chapter focuses on the clinical features of psoriasis of the skin and its underlying pathogenesis, taking into account the current status of genetic research in the field. It also describes psoriatic arthritis, as well as the association of psoriasis with spondyloarthritis.

scholarly journals Adjuvant rituximab, a potential treatment for the young patient with Graves’ hyperthyroidism (RiGD): study protocol for a single-arm, single-stage, phase II trial

BMJ Open ◽  
2019 ◽  
Vol 9 (1) ◽  
pp. e024705
Author(s):  
Michael Cole ◽  
Ann Marie Hynes ◽  
Denise Howel ◽  
Lesley Hall ◽  
Mario Abinun ◽  
...  
Keyword(s):  
Thyroid Gland ◽  
Phase Ii ◽  
Young Patients ◽  
Antithyroid Drug ◽  
Well Being ◽  
Young Person ◽  
Thyroid Stimulating Hormone ◽  
Single Stage ◽  
Phase Iii ◽  
North East

IntroductionGraves’ disease (Graves’ hyperthyroidism) is a challenging condition for the young person and their family. The excess thyroid hormone generated by autoimmune stimulation of the thyroid stimulating hormone receptor on the thyroid gland can have a profound impact on well-being. Managing the young person with Graves’ hyperthyroidism is more difficult than in older people because the side effects of conventional treatment are more significant in this age group and because the disease tends not to resolve spontaneously in the short to medium term. New immunomodulatory agents are available and the anti-B cell monoclonal antibody rituximab is of particular interest because it targets cells that manufacture the antibodies that stimulate the thyroid gland in Graves’.Methods and analysisThe trial aims to establish whether the combination of a single dose of rituximab (500 mg) and a 12-month course of antithyroid drug (usually carbimazole) can result in a meaningful increase in the proportion of patients in remission at 2 years, the primary endpoint. A single-stage, phase II A’Hern design is used. 27 patients aged 12–20 years with newly presenting Graves’ hyperthyroidism will be recruited. Markers of immune function, including lymphocyte numbers and antibody levels (total and specific), will be collected regularly throughout the trial.DiscussionThe trial will determine whether the immunomodulatory medication, rituximab, will facilitate remission above and beyond that observed with antithyroid drug alone. A meaningful increase in the expected proportion of young patients entering remission when managed according to the trial protocol will justify consideration of a phase III trial.Ethics and dissemination The trial has received a favourable ethical opinion (North East - Tyne and Wear South Research Ethics Committee, reference 16/NE/0253, EudraCT number 2016-000209-35). The results of this trial will be distributed at international endocrine meetings, in the peer-reviewed literature and via patient support groups.Trial registration numberISRCTN20381716.

Cutaneomeningospinal Angiomatosis (Cobb Syndrome) in a Young Patient

2021 ◽  
Vol 20 ◽  
Author(s):  
Marina Putilina ◽  
Nataliya Teplova ◽  
Anton Dvornikov
Keyword(s):  
Spinal Cord ◽  
Cervical Spine ◽  
Young Patient ◽  
Muscle Tone ◽  
Cervical Spinal Cord ◽  
Vascular Malformations ◽  
Young Patients ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Neurological Symptoms

: Cobb Syndrome (Spinal Arteriovenous Metameric Syndrome 1-31 (SAMS 1-31)) is a rare, non-hereditary disorder. Approximately 100 cases of CS have been described to date. The actual incidence may be much higher since only symptomatic patients were documented. In particular, post mortem studies suggest a possibly higher incidence of this syndrome. The main clinical manifestations of this syndrome include skin stains of vascular nature on the torso, in combination with spinal vascular malformations localized in one and the same metameric or spinal segment. A rare diagnosis of this syndrome in patients over 18 is probably related to the fact that the disease may be asymptomatic throughout a long period of time [3], while patients may tend to disregard the skin lesions [5,6]. As a result, most publications on this pathology are based on separate case reports [7-9]. Significant variability of clinical manifestations as well as prolonged progress of the disease often cause errors in diagnosis. What follows is a case report of a young patient with Cobb Syndrome, who was admitted to a regional vascular centre with a misdiagnosis of stroke. 20 patients of young age (from 20 to 35 years old), with a diagnosis of stroke, who were admitted to a University Clinic (of the Russian National Research Medical University Named After Pirogov N.I., Moscow). Among this group of patients, a patient with Cobb syndrome was identified. Patient P., of 22 years, presented with acute, intensive cervical spinal pain, predominantly on the right, numbness and weakness in the arms and legs. About 3 weeks before admission to the hospital the patient had ARVI with a fever of up to 37.5°C: two weeks before the onset of symptoms he had undergone extirpation of 2 teeth, for which reason he spent over 2 hours in a forced position with his head thrown back (prolonged overextension in the cervical spine). Multiple skin angiomas on the chest spreading to the shoulder and scapula region. Tetraparesis up to 4 points: tetraparesis in hands with low muscle tone, low reflexes, tetraparesis in legs with high muscle tone, high reflexes. Foot clonus when causing Achilles reflexes. Tremor in the extremities. No plantar reflex pathology detected. Sensitivity disorders in the hands – "the high gloves". No pelvic disorders detected. Given the presence and exacerbation of neurological symptoms and cutaneous angiomas MRI with contrast agent of the cervical spine was recommended. MRimage of an advanced arteriovenous malformation (AVM) of the cervical spinal cord with signs of gliosis and spinal cord oedema at the С2 – С7 level. Endovascular embolization of the AVM in cervical spinal cord was performed. The treatment led to complete reversal of neurological symptoms. In the presence of skin lesions the diagnosis of CS does not present particular difficulties, so in children and young patients with skin angiomatosis it is advisable to conduct a comprehensive examination using selective spinal angiography or MR angiography to exclude arteriovenous malformations in spinal cord.

Abstract 236: Triaging Young Patients With Acs in the Ed - A Case Report

2020 ◽  
Vol 13 (Suppl_1) ◽  
Author(s):  
Brian Schwartz ◽  
Salih N Grevious
Keyword(s):  
Chest Pain ◽  
Delayed Diagnosis ◽  
Young Patients ◽  
The United States ◽  
Young Person ◽  
Delayed Presentation ◽  
Coronary Syndrome ◽  
Age Related ◽  
Control And Prevention ◽  
Pain At Rest

Introduction: Cardiovascular Disease (CVD) is the leading cause of death in the United States. According to the Centers for Disease Control and Prevention (CDC), one person dies every 37 seconds from complications of CVD. One of the main complication of CVD is acute coronary syndrome (ACS) which includes unstable angina as well as an acute myocardial infarction (AMI). 1 More than 790,000 Americans have an AMI annually, of which 73% are first-time AMIs. 2 These events generally affect older people, with an average age of 65.6 years for men and 72 years for women. Furthermore, only 0.3% of men and women under the age of 39 will have an AMI. 3,4 As a result, it is often overlooked among this population in the acute care setting. We present the case of a young man with a delayed diagnosis of ACS despite typical presentation and EKG findings. Case presentation: A 27 year old male presented after three days of progressive substernal chest pain at rest. ECG revealed anterolateral ST elevations, but “No STEMI” was noted on the EKG and a troponin was not drawn for 4 hours. While the ED did not have a specific diagnosis in mind, they did not believe such a young person likely had ACS and originally ‘misread’ the EKG. Triage to PCI did not occur until troponin returned positive later that afternoon, more than 8 hours after initial presentation. Cardiac angiography showed a complete occlusion of the mid LAD requiring a single DES. Post-procedure ECG showed persistent anterolateral ST elevation raising concern for future complications in part due to delayed triage. Discussion: The delayed presentation and triage of this patient warrants discussion. While there is a lack of data on door to balloon time based on age for ACS patients, it appears extremely likely that this diagnosis was missed, despite EKG findings and typical chest pain, in part due to age related bias. This case raises concern that providers are hesitant to diagnosis ACS in young patients due to its low prevalence in this population and warrants further study on steps that can be taken to decrease missed ACS diagnoses and the resultant suboptimal medical outcomes that may follow.

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