'It breaks my heart': Healthcare practitioners' caring for families with epidermolysis bullosa.

Background: Epidermolysis bullosa (EB) is a painful genodermatosis presenting with skin fragility and blisters. There is no cure; the prognosis is guarded and depends on the subtype of the disease. Managing these patients can be emotionally challenging for healthcare practitioners. Aim: To determine the perceptions, impact, and needs of healthcare practitioners (HCP) caring for patients and their families with EB. Setting: Nelson Mandela School of Medicine, Durban and Grey's Hospital, Pietermaritzburg, KwaZulu-Natal. Methods: The study was guided by interpretative phenomenological analysis. Individual in-depth interviews were conducted with 10 healthcare practitioners. Guba's trustworthiness framework was used to ensure rigour. Results: Six global themes were identified, each related primarily to the perceptions, impact, and needs of healthcare practitioners. The experiences and perceptions of healthcare practitioners were that caring for patients with an incurable disease such as EB could negatively impact healthcare practitioners. There were divergent views among the disciplines of HCPs regarding the extent of care in a resource-limited environment. This resulted in negative emotions, ethical concerns, and a need for continued medical education and the application of coping strategies. Healthcare practitioners observed that patients and their families were vulnerable, requiring comprehensive biopsychosocial care. Conclusion: Healthcare practitioners should be aware of their emotional challenges, seek support where necessary, and use effective coping strategies and self-care. Contribution: The concerns and needs of healthcare practitioners are highlighted and interventional strategies to assist healthcare practitioners are suggested which will ultimately improve patient care.

A qualitative study on traditional healers' perceptions and management of epidermolysis bullosa.

Background: Epidermolysis bullosa (EB) is a rare, incurable genodermatosis causing blisters that can result in multisystemic complications and death. Limited data exists on EB in South Africa. Research indicates that the majority of African patients consult traditional health practitioners (THPs) before seeking allopathic healthcare. Aim: This study aims to understand THPs belief systems, experiences, perceptions and management of EB patients and their families in the social and cultural context to improve the healthcare of EB patients. Setting: The study setting is Nelson Mandela School of Medicine, Durban, and Grey's hospital, Pietermaritzburg, KwaZulu-Natal. Methods: Qualitative in-depth interviews were conducted with 10 THPs. A non-probability, purposive sampling method was used. A two-site qualitative study was guided by interpretative phenomenological analysis. Guba's trustworthiness framework was used to ensure rigour. Results: Three male and seven female THPs were interviewed, including sangoma, inyanga and umthandazi. The integration presented five global themes: (1) THP practices, (2) perceptions of THP, (3) experiences of THP with patients with EB, (4) diagnosis and management plans of THP and (5) vision and role of THPs. There were multiple divergent perspectives among the THPs with the shared African worldview. Conclusion: Understanding THPs belief systems and therapeutic options is crucial for holistic patient management. Knowledge exchange can promote safe healthcare practices and facilitate collaboration between traditional and allopathic health practitioners. Contribution: This is the first study to explore THPs perceptions and practices regarding EB, a rare disease.

The impact of epidermolysis bullosa on the family and healthcare practitioners: a scoping review.

BACKGROUND: Epidermolysis bullosa (EB) is an inherited genodermatosis that results in mucocutaneous fragility. There is a lack of data on the impact of this disease on parents. There are no studies on the impact on siblings and few on healthcare professionals in dealing with this devastating disease. METHODS: A scoping review was performed using the Arksey and O'Malley and PRISMA-ScR framework. Twenty-seven articles were reviewed, and a data-charting sheet was formulated. RESULTS: Parents make great sacrifices and are resilient in caring for their sick children but are at risk of depression. Siblings play a vital role in caring for their siblings, but their needs may be overlooked because the main focus is on the sibling with EB. Healthcare professionals may suffer burnout and compassion fatigue in caring for patients and their families with EB. CONCLUSION: Comprehensive care of the family and the awareness of the challenges experienced by healthcare professionals is essential to the holistic care of a patient with EB.

Microbiologic characterisation of bacterial infections in children with atopic dermatitis.

Background: Patients with atopic dermatitis (AD), the commonest chronic inflammatory skin disease are often colonised and infected by Staphylococcus aureus. In this study, we aimed to determine the type and antibacterial sensitivities of the bacteria infecting eczematous lesions in children with AD and to recommend first-line antibiotic therapy. Methods: A prospective study was conducted from June 2020 to June 2021 in children with AD presenting with a cutaneous infection at the King Edward hospital VIII outpatient dermatology clinic. Swabs were collected for microbial culture, confirming infections and assessing antibiotic sensitivity for infected sites. Results: Ninety six children were recruited during the study period with a mean age of 4.3 ± 3.4 years. The commonest cause of bacterial infection was Staphylococcus aureus seen in 74 (77.1%) cases, followed by Staphylococcus aureus and Group A ß-haemolytic streptococcus (GAS) co-infection in 22 (22.9%) cases. The majority of these infections were observed on the lower limbs in 50 (52.08%) cases and in moderate 37 (38.5%) cases and severe eczema cases of 38 (39.6%) in AD. There was no gender predilection. Staphylococcus aureus was sensitive to amoxicillin-clavulanic acid in 57 (77.0%) cases, cloxacillin in 53 (71.6%) cases and clindamycin in 24 (32.4%) cases, whereas GAS was mostly sensitive to ampicillin in 10 (45.5%) cases. No swabs retained a resistant strain. Conclusion: Staphylococcus aureus is the commonest bacterial cause of cutaneous infection in children with AD in our setting. Amoxicillin-clavulanic acid and cloxacillin remain the most sensitive therapeutic options for this infection, however, a larger study is required to explore resistance strains, if any, in our setting.

Mucocutaneous diseases in the combined antiretroviral therapy era: prevalence and spectrum in HIV seropositive children and adolescents in Durban, South Africa.

BACKGROUND: Mucocutaneous diseases (MCD) have been commonly described among human immunodeficiency virus (HIV) infected patients before the combined antiretroviral therapy (cART) era. There is limited data on the frequency and type of MCD in the cART era in African children and adolescents. This study aimed to describe the prevalence and spectrum of MCD in South African children and adolescents seropositive for HIV on cART. METHODS: A cross-sectional study of 310 participants aged 0-19 years attending a public sector ART clinic at King Edward VIII Hospital, Durban, South Africa, was conducted. Demographic, clinical, and laboratory information was obtained from the participants and hospital records. Participants were examined. Data were collated and analyzed with SPSS version 23. RESULTS: MCD were observed in 77.4% of HIV-infected children. The prevalence was higher among males and adolescents above 16 years old (83.9%). Infectious skin disorders (44.7%) were less common than noninfectious dermatoses (55.3%). More common disorders encountered included generalized pruritus (32.6%), fungal infections (20.9%), and inflammatory (20.4%) and pigmentary (20.4%) skin disorders. Tinea capitis and pedis were the most prevalent fungal infections, while oral candidiasis (0.2%) was the least. Inflammatory skin disorders and dyschromia appeared to be more common than in the pre-cART era. CONCLUSIONS: While MCD are still common in HIV-infected children and adolescents in the cART era, the pattern and types of disorders have changed to a predominance of non-infectious dermatoses.

The impact of basic dermatology education and training on primary healthcare providers in KwaZulu-Natal, South Africa.

BACKGROUND: Dermatological diseases are amongst the commonest reasons for consultation at primary care level. Yet, dermatology teaching in medical and nursing curricula is inconsistent and often insufficient to enable medical and nursing professionals to manage these conditions effectively. METHODS: We tested the knowledge of 100 doctors and 195 nurses who attended dermatology training sessions held in three health districts in the province of KwaZulu-Natal (KZN), South Africa, by using a quasi-experimental uncontrolled before-and-after study design. At the start of the session, participants were exposed to 15 slides representing common dermatological conditions; this was followed by a test. The participants then attended a series of short lectures followed by the same test. Pre- and post-intervention test scores were compared, and the results were analysed by professional status, health district and type of facility. RESULTS: The mean (standard deviation [SD]) pre-intervention test score was 40.6% (20.5%). Doctors scored significantly higher than nurses (p 0.0001). There were significant differences in performance by district (p 0.001) and type of facility (p 0.001). The mean (SD) post-intervention score improved to 68.7% (22.5%). CONCLUSION: Doctors and nurses working in the primary care sector appear to be insufficiently trained in the management of common dermatological conditions. A short period of in-service training resulted in an immediate, significant improvement in knowledge, although we did not study long-term retention beyond this. We recommend improved prequalification training in dermatology in medical and nursing schools and an expansion of continuing professional development as well as in-service training opportunities for primary care practitioners.

Corticosteroid wraps as monotherapy in a child with extensive idiopathic pyoderma gangrenosum.

Pyoderma gangrenosum (PG) is an inflammatory neutrophilic dermatosis that may present with limited to severe disease, posing a therapeutic challenge. A 7-year-old African female who presented with extensive PG showed a remarkable response to corticosteroid wrap monotherapy.

Emergomyces africanus: The Mimicking Fungus.

A 31-year-old HIV-seropositive woman from Durban, KwaZulu-Natal, South Africa, presented with a 3-month history of widespread umbilicated and ulcerated skin papules, plaques, and nodules. The skin lesions were biopsied and sent for histology and fungal culture; the cultured isolate was referred for molecular identification. Histology, fungal culture, and molecular testing confirmed that the dimorphic fungal pathogen Emergomyces africanus had caused a disseminated mycosis.

Outcomes of Stevens-Johnson syndrome and toxic epidermal necrolysis in HIV-infected patients when using systemic steroids and/or intravenous immunoglobulins in Pietermaritzburg, South Africa.

BACKGROUND: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe life-threatening mucocutaneous reactions. There is an ongoing controversy regarding the use of systemic corticosteroids and intravenous immunoglobulin (IVIG) in SJS/TEN and their utility in HIV-infected patients. OBJECTIVES: The objective was to assess the outcome of a combination of intensive supportive care with oral corticosteroids in SJS and a combination of systemic steroids and IVIG for 3 consecutive days in HIV-infected patients with TEN. In addition, we assessed management in a general dermatology ward without implementing wound debridement. METHODS: This was a retrospective cohort study of 36 HIV-infected adults with SJS/TEN admitted to a tertiary dermatology unit between 1st January 2010 and 31st July 2011. Standard-of-care protocols included identification and elimination of the possible causative drug, meticulous wound care without debridement, initiation of oral prednisone (1 mg/kg/day) on admission for 3 consecutive days, and the addition of IVIG (1 g/kg/day) for 3 consecutive days to those with TEN. RESULTS: Of the 36 patients in the study, 32 were female. Nevirapine was the commonest drug implicated. A diagnosis of tuberculosis did not increase the case fatality rate. Complications included infections, anaemia, drug-induced hepatitis, ocular involvement, renal impairment, deep vein thrombosis, respiratory distress, Leucopenia, gastritis and hypernatremia. The overall survival rate was 97%. CONCLUSION: HIV-infected SJS and TEN patients were treated in a tertiary dermatology ward with a treatment plan of skin care, and a combination of systemic corticosteroids and IVIG respectively had a survival rate of 97%.

Outcomes of Stevens­Johnson syndrome and toxic epidermal necrolysis in HIV-infected patients when using systemic steroids and/or intravenous immunoglobulins in Pietermaritzburg, South Africa

Background: Stevens­Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe life-threatening mucocutaneous reactions. There is an ongoing controversy regarding the use of systemic corticosteroids and intravenous immunoglobulin (IVIG) in SJS/TEN and their utility in HIV-infected patients.Objectives: The objective was to assess the outcome of a combination of intensive supportive care with oral corticosteroids in SJS and a combination of systemic steroids and IVIG for 3 consecutive days in HIV-infected patients with TEN. In addition, we assessed management in a general dermatology ward without implementing wound debridement.Methods: This was a retrospective cohort study of 36 HIV-infected adults with SJS/TEN admitted to a tertiary dermatology unit between 1st January 2010 and 31st July 2011. Standard-of-care protocols included identification and elimination of the possible causative drug, meticulous wound care without debridement, initiation of oral prednisone (1 mg/kg/day) on admission for 3 consecutive days, and the addition of IVIG (1 g/kg/day) for 3 consecutive days to those with TEN.Results: Of the 36 patients in the study, 32 were female. Nevirapine was the commonest drug implicated. A diagnosis of tuberculosis did not increase the case fatality rate.Complications included infections, anaemia, drug-induced hepatitis, ocular involvement, renal impairment, deep vein thrombosis, respiratory distress, Leucopenia, gastritis and hypernatremia. The overall survival rate was 97%.Conclusion: HIV-infected SJS and TEN patients were treated in a tertiary dermatology ward with a treatment plan of skin care, and a combination of systemic corticosteroids and IVIG respectively had a survival rate of 97%

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. It is caused by pathogenic variants in the WRN gene, which encodes a multifunctional nuclear protein with exonuclease and helicase activities. WRN protein is thought to be involved in optimization of various aspects of DNA metabolism, including DNA repair, recombination, replication, and transcription. In this update, we summarize a total of 83 different WRN mutations, including eight previously unpublished mutations identified by the International Registry of Werner Syndrome (Seattle, WA) and the Japanese Werner Consortium (Chiba, Japan), as well as 75 mutations already reported in the literature. The Seattle International Registry recruits patients from all over the world to investigate genetic causes of a wide variety of progeroid syndromes in order to contribute to the knowledge of basic mechanisms of human aging. Given the unusually high prevalence of WS patients and heterozygous carriers in Japan, the major goal of the Japanese Consortium is to develop effective therapies and to establish management guidelines for WS patients in Japan and elsewhere. This review will also discuss potential translational approaches to this disorder, including those currently under investigation.

The Prevalence of Paediatric Skin Conditions at a Dermatology Clinic in KwaZulu-Natal Province over a 3-Month Period

Background. Skin conditions are common in children; and studying their spectrum in a tertiary dermatology clinic will assist in quantifying skin diseases associated with greatest burden. Objective. To investigate the spectrum and characteristics of paediatric skin disorders referred to a tertiary dermatology clinic in Durban; KwaZulu-Natal (KZN) Province; South Africa. Methods. A cross-sectional study of children attending the dermatology clinic at King Edward VIII Hospital; KZN; was carried out over 3 months. Relevant demographic information and clinical history pertaining to the skin conditions were recorded and diagnoses were made by specialist dermatologists. Data were analysed with EPI Info 2007 (USA).Results. There were 419 children included in the study; 222 (53%) were males and 197 (47%) were females. A total of 64 diagnosed skin conditions were classified into 16 categories. The most prevalent conditions by category were dermatitis (67.8%); infections (16.7%) and pigmentary disorders (5.5%). For the specific skin diseases; 60.1% were atopic dermatitis (AD); 7.2% were viral warts; 6% seborrhoeic dermatitis and 4.1% vitiligo. Dermatitis was significantly more common in males (p0.05). AD was the most common condition below 12 years of age; while the presence of viral warts was the most prevalent disorder among HIV-infected children. Approximately one-third (37.5%) of the disorders referred by other medical practitioners were misdiagnosed. Conclusions. AD constituted the highest burden both numerically and economically. Viral infections were a major contribution from HIV infection. The diverse spectrum and characteristics of skin diseases referred will assist in modifying the dermatology educational curriculum and bridge knowledge gaps among healthcare providers treating children