Immunobullous diseases can be disabling in the acute phase, causing widespread painful or pruritic skin and mucosal lesions. The subsequent psychological consequences of these disorders have not been fully evaluated. We treated a 53-year-old woman for severe bullous pemphigoid affecting her skin and oral mucosa. Following resolution of disease, she was left with debilitating anxiety and depression. This case prompted us to look at the psychological impact of immunobullous disease in our cohort. We used the Patient Health Questionnaire (PHQ-9), General Anxiety Disorder (GAD-7) and Dermatology Life Quality Index to establish the psychosocial impact in patients attending the immunobullous specialist clinic at a large tertiary dermatology centre. An assessment of pain using a numerical pain-rating scale and a question regarding any pre-existing mental health conditions were included. Twelve patients with various immunobullous conditions were surveyed. Seventy-five per cent (n = 9) of patients were identified as having a mood disorder via their PHQ-9 and GAD-7 scores. The PHQ-9 scores indicated mild (50%), moderate (17%) and severe (8%) depression symptoms in these patients. Twenty-five per cent and 17% of patients had a GAD-7 score indicating mild and moderate anxiety, respectively. Three patients declared that they had a previous mental health diagnosis; however, only mild depression and mild anxiety were identified in two of these patients. Only one of these patients volunteered mental health symptoms during their consultation, indicating an unrecognized burden of disease in this community. Our findings support previous research indicating high rates of depression in patients with immunobullous disease. Furthermore, there is an established association between bullous pemphigoid and neuropsychiatric conditions, with identification of autoantigen expression in the central nervous system. Mood disorders have a significant effect on patients’ experience of disease, and are likely to have an impact on disease course and engagement with treatment. A large European study found that dermatologists underestimate the severity of mood disorders. Therefore, the incorporation of validated measures for assessment of mood disorders such as PHQ-9 and GAD-7 into clinical practice is essential to identify the high proportion of patients with immunobullous disease suffering from these disorders. Quality of life measures, which are commonly assessed, are not sufficient for holistic management of these patients. These findings support the invaluable role of a psychologist within dermatology centres, and appropriate referrals to these services will improve with assessment during clinic consultations.
A 14-year-old boy presented with a 7-month history of a nodule on the right shoulder. It was initially pink and pea-sized but developed black areas as it grew. It was nontender but bled occasionally. He was otherwise well and took no regular medications. He was originally from the Philippines, having moved to the UK 2 years previously. His mother had a history of breast cancer. This was suspected to be a pyogenic granuloma and treated with a shave biopsy. Histology showed largely patternless sheets of small, blue, round cells, with diffuse and strong membranous reactivity for CD99 on immunohistochemistry. Further molecular analysis revealed EWSR1–FLI1 fusion, confirming Ewing sarcoma. Staging imaging showed no metastatic disease. Following further surgery, he was treated as per the Euro-Ewing protocol with vincristine (V), doxorubicin (D), cyclophosphamide (C), ifosfamide (I), etoposide (E; nine induction cycles: alternate VDC/IE followed by five consolidation cycles IE/VC). Ewing sarcoma most commonly arises from bone and is the second most common bone malignancy in children with an incidence of 2.93 per million. Primary cutaneous Ewing sarcoma is extremely rare, with most of the literature consisting of case reports. A 2015 retrospective review of 56 cases of cutaneous/subcutaneous Ewing sarcoma from the UK and France found that most cases were on the extremities (48%) or trunk (39%). Primary cutaneous Ewing sarcoma tends to occur in late-adolescent or young-adult females, whereas bone disease affects younger patients with a male predominance. Current treatment is similar to treatment for Ewing arising from bone. However, primary cutaneous Ewing sarcoma has a more favourable prognosis, with a 5-year overall survival rate of 93.8%. In summary, cutaneous Ewing sarcoma is a very rare malignancy, particularly in the paediatric population. It is important to consider this in the differential diagnosis of erythematous nodular lesions in children, in order to minimize delays in treatment.
We report the case of a 50-year-old woman, with a history of Gorlin syndrome on vismodegib therapy, who presented with two episodes of upper gastrointestinal bleeding (UGIB) in the absence of other risk factors. Gorlin syndrome is a rare disorder characterized by multiple basal cell carcinomas (BCCs) secondary to a mutation in PTCH1. Mutations in PTCH1 lead to dysregulation of the hedgehog signalling pathway and subsequent abnormal proliferation. Vismodegib is a systemic hedgehog inhibitor that has been shown to be effective in treating advanced BCCs and Gorlin syndrome. Our patient acquired multiple BCCs which excision, photodynamic therapy and topical chemotherapy agents failed to control. Therefore, a decision to commence vismodegib was made. During treatment with vismodegib, she had a perforated gastrointestinal ulcer and required an emergency laparotomy. Vismodegib was stopped, but over the next few years, her BCCs progressed again to an excess of 50 BCCs, including large plaques of carcinoma measuring up to 12 cm in diameter. Vismodegib was restarted with a high-dose proton–pump inhibitor cover, as recommended by the gastroenterology team, and her BCCs were largely resolved. However, a second bleed occurred approximately 1 year after restarting treatment. Gastroscopies undertaken following these episodes were largely normal, showing mild, nonerosive duodenitis only, and Helicobacter pylori testing was negative. Given the lack of pre-existing risk factors and temporal relation to vismodegib therapy, the decision was made to suspend the drug. To our knowledge, this is the first case reported in the literature of UGIB associated with vismodegib. A separate case has reported colonic mucosal changes in a patient with chronic diarrhoea on vismodegib. The hedgehog protein and RNA expression have been found to be present in the gastrointestinal endothelium and mesenchyme. Evidence suggests the hedgehog pathway activation in gastrointestinal lining is involved in the wound-healing response, endothelial turnover and activation of mesenchymal immune responses. Therefore, inhibition of the hedgehog pathway via vismodegib could potentially impair the essential maintenance of the gastrointestinal endothelium. We postulate that this mechanism could have led to the presentation in our patient, through endothelial damage exposure of vessels leading to gastrointestinal bleeding. Treatment options for BCC in our patient are now limited. Vismodegib is one of the few therapies that has been shown to induce remission of symptoms and reduce disease burden. We present this case to raise awareness of this potential adverse event.
Acne vulgaris is a chronic and recurrent inflammatory condition of the pilosebaceous unit. A combination of topical and systemic agents is often required to achieve symptom control, improve quality of life and reduce the risk of scarring. The role of skincare products in the management of acne has been well defined in the literature as a key adjunct to other therapies. We conducted an observational retrospective study to explore the patient experience of acne skincare advice provided by their dermatologist. Patients in the acne clinic, to which they would be referred for treatment with oral isotretinoin, were invited to participate. A survey incorporating multiple choice questions and an open comment box was distributed electronically. Twenty-nine per cent of patients acknowledged the importance of skincare products in managing their acne. Only 39% of respondents felt they had the opportunity to discuss skincare during their consultation. Over 86% of patients had been prescribed oral isotretinoin at least once; however, 60% had not received any skincare advice from their dermatologist. Only 31% of patients felt more confident with their skincare routine after their dermatology consultation than they did before. The internet and social media were the most popular sources of information for accessing skincare advice, with over 77% of patients identifying it as their main informant. Yet the majority of patients (88%) were likely to adhere to skincare advice if instructed by their dermatologist, clearly preferring this to social media. The most recurring theme from open comments was the desire to discuss skincare with their dermatologist and get signposted to a more reliable source of information for skincare. The data suggest that clinicians are failing to address or discuss skincare with patients, leaving them at the mercy of social media and at risk of exposure to scientifically unproven or incorrect advice. Integrating such advice when reviewing patients with acne would not only help with the management of their condition post-treatment with oral isotretinoin but also improve patient satisfaction and avoid misinformation. As a single-centre study, our results may not be representative of all patients, and the data collected were dependent on patient recall. Our results highlight the need for dermatologists to disseminate evidence-based skincare advice specific to acne-prone skin to their patients. Going forward, we aim to provide all our patients with acne with an information leaflet on skincare to complement their medical treatment.
Aims The mainstay of acute appendicitis treatment is a surgical approach. However, in the tumultuous COVID-19 era, the approach to acute appendicitis management has altered. We sought to assess the applicability of the new RCS COVID-19 guidance after resolution of the global pandemic. Methods A retrospective study was conducted on 244 patients presenting between 01/03/2020 and 17/07/2020. Three sources of data were sought: patients presenting to A&E with signs of appendicitis, operative logs for patients who underwent removal of their appendix and all CT/US scans where the clinician had queried appendicitis in the request. Results 139 patients were treated conservatively with antibiotics (57.0%). 35 (25.2%) represented within 6 months. Conservative treatment was successful in 92.1% of cases. 65 appendectomies were completed during that time. 45 cases presented acutely whereby the surgical management of acute appendicitis was the primary choice. The decision to operate was due to: 13 (20%) because the patient was 16 or younger. 4 cases presenting with signs of severe sepsis. 4 cases had a complicated appendicitis on their imaging results. 22 (33.8%) cases were completed without initial conservative management. 9 (3.7%) cases failed conservative treatment thus requiring surgical management. 11 (4.5%) cases represented within 6 months due to recurrent appendicitis despite successful antibiotic treatment. Therefore, the recurrence rate following conservative treatment was 7.9%. Conclusions There was mixed adherence to the new guidance. Surgical management remains the best approach towards acute appendicitis. However, excellent results can still be achieved with appropriately targeted antibiotic therapy.
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