Antoinette V. Chateau

Background: Although onychomycosis is common worldwide and often significantly impairs the quality of life of patients, local epidemiological and mycological data are lacking. We therefore investigated the risk factors, clinical features and mycological aspects of onychomycosis in KwaZulu-Natal. Methods: This study had two components. In the retrospective arm, positive fungal nail cultures from 2018 to 2024 were analysed. Prospectively in 2025, clinical and mycological data were collated. Descriptive statistical methods were used to summarise the dataset. Results: Out of a total of 301 patients, 229 patients with positive cultures were analysed. The retrospective analysis (n = 177) showed Candida species were the most common (66.7%), followed by moulds (13.6%) and Trichophyton species (11.9%). Prospectively, 124 patients were included; 51.6% females and 48.4% males with a median age of 58.0 years. Candida species (40.4%), moulds and Trichophyton species (25.0% each) were most frequent in 52 patients with positive cultures. All Candida species were susceptible to fluconazole. Most patients had subungual hyperkeratinisation. Immunosuppression (other than human immunodeficiency virus [HIV] infection and diabetes mellitus) was the most common risk factor. Conclusion: Candida species were the commonest cause of onychomycosis; therefore fluconazole is an appropriate treatment modality. However, revision of the existing essential drug list is recommended to include itraconazole or terbinafine for patients with confirmed infection with moulds or dermatophytes. Contribution: This is the first detailed analysis of onychomycosis in KwaZulu-Natal and contributes to the limited body of data in South Africa. Our results may be used to inform therapeutic recommendations.

Background: The Eastern Cape is an under-resourced province and the poorest in South Africa, where little is known about the epidemiology of skin diseases. Objectives: To examine the nature and prevalence of skin diseases in two neighbouring rural villages in the Eastern Cape, South Africa. Methods: We conducted a cross-sectional point prevalence study of skin diseases of residents (adults and children) in Mtyholo Dlova and Mdolomba villages in December 2023. Through house-to-house visits, we collected data on the households, participant demographics and skin diagnoses following clinical skin examination by dermatologists. Point prevalence rates and 95% confidence intervals (CIs) were calculated for each skin condition. Results: A total of 309 households were visited with 698 participants included of whom 99% were Xhosa people, 56% were female [mean (SD) age 37.4 (24.2) years], 39% were unemployed, 18% were retired, 60% did not smoke and 69% did not drink alcohol. Seventy-five per cent of households had an average monthly income < ZAR3000 South African Rand (128 GBP). In total, 439 people had at least one skin disease with a point prevalence of any skin disease of 62.9% (95% CI 59.3–66.5). The most prevalent diseases in children (aged < 18 years) were tinea capitis (16.4%), acne vulgaris (13.0%), pityriasis alba (10.6%), prurigo (4.8%), postinflammatory hyperpigmentation (3.9%), xerosis (3.9%), atopic dermatitis (3.4%) and scabies (3.4%). In adults, the most prevalent diseases were xerosis (7.8%), acne vulgaris (7.4%), melasma (6.2%), dermatosis papulosa nigra (5.6%), scarring alopecia (3.5%), nonscarring alopecia (3.1%) and tinea pedis (3.1%). Psoriasis was rare, with a prevalence of 0.3% in the study population. Generally, skin disease was more common in female than male participants (65.8% vs. 59.2%) with sex-specific differences in the prevalence of certain dermatoses; melasma, alopecia (scarring and nonscarring), seborrhoeic dermatitis, dermatosis papulosa nigra and irritant contact dermatitis were more prevalent in female participants, whereas there was a predominance of pseudofolliculitis barbae, atopic dermatitis, postinflammatory hyperpigmentation, acne vulgaris, pityriasis versicolor, scabies, tinea pedis and tinea capitis in male participants. Conclusions: Skin disease is common in the Eastern Cape, South Africa. These findings may help strengthen the provision of dermatology services and the distribution of resources in the region, and highlight training opportunities for healthcare workers.

Epidermolysis bullosa (EB) is a rare, incurable inherited mucocutaneous blistering disorder that can lead to multisystemic complications. In Africa, there are no established consensus statements or clinical guidelines for the care of patients with EB. To develop comprehensive transdisciplinary consensus statements for the care of patients with EB. This article (Part 2) presents 24 consensus statements focused on the biopsychosocial aspects of EB care. Part 1 addressed diagnostic and clinical management and resulted in 16 consensus statements. This was a multicentre, multiprovincial study involving healthcare practitioners from Eastern Cape, Free State, Gauteng, KwaZulu-Natal and Western Cape. In collaboration with patients and families, the transdisciplinary team of experts developed consensus-based statements through a modified Delphi process. This iterative process involved three consensus rounds with an 80% agreement threshold for each action point to ensure validity and reliability. In total, 24 consensus statements were endorsed. These included holistic patient and family care; cultural considerations; educational inclusion; paediatric and emergency care; psychosocial care; nutritional; gynaecological and ophthalmic support; occupational therapy; physiotherapy and orthopaedic; dental and podiatric management. Comprehensive transdisciplinary care is essential for addressing the holistic needs of patients with EB and their families, particularly in resource-limited and culturally diverse settings. This is the first set of consensus statements for the care of EB in South Africa and the broader African continent, offering a culturally sensitive, patient-centred framework for multidisciplinary care.

Background: Epidermolysis bullosa (EB) is a rare, painful and blistering genodermatosis with no cure. Treatment aims to prevent new lesions and manage complications. Previously, there were no management guidelines or consensus recommendations for patients with EB in Africa. Aim: The aim of this study is to produce a comprehensive, transdisciplinary and practical care guide that is contextually appropriate to the cultural setting and resource limitations in South Africa. Setting: Multicentre, multiprovincial study involving healthcare practitioners from five South African provinces – KwaZulu-Natal, Gauteng (Johannesburg, Pretoria), Western Cape (Cape Town, Stellenbosch), Free State (Bloemfontein) and the Eastern Cape (Umtata). Methods: Consensus recommendations for the care of patients with EB were developed by a transdisciplinary team of specialists in consultation with EB patients. The modified Delphi technique was used to reach a robust consensus with a threshold of 80% for each action point to ensure the validity and reliability of the recommendations. Results: In all, 16 consensus statements were developed, and the main themes included the clinical clues to the diagnosis, complications as per the subtype of EB, diagnostics in a resource-limited environment, management of EB, pruritus and pain, palliative care and genetic counselling. Conclusion: A transdisciplinary approach is essential for the holistic care of patients and their families with EB in the context of their resource limitations and cultural diversity providing much-needed guidance for clinicians in South Africa and similar settings. Contribution: This is the first consensus recommendation of care for patients with EB in Africa.

Background: Epidermolysis bullosa (EB) is a rare, heterogeneous genodermatosis characterized by skin fragility due to inherited defects in genes encoding proteins that maintain epidermal–dermal integrity. The severity and complications of EB vary by subtype, and no cure currently exists. The epidemiology is unknown in South Africa.Methods: This prospective observational study in KwaZulu‐Natal correlated African Zulu EB patients' phenotypic features with genotypic and histological findings. Whole‐exome sequencing, electron microscopy, and immunofluorescence mapping were used to identify EB subtypes.Results: Fourteen of the 15 patients recruited initially were confirmed to have EB, while one was excluded due to poor clinicopathological‐genetic correlation. Junctional EB (JEB) was identified in 11 patients, with 10 cases linked to a recurrent homozygous pathogenic variant in LAMB3, causing severe JEB, and one to ITGA3 with an unusual variant of interstitial lung disease, nephrotic syndrome, and EB (ILNEB). Two patients had autosomal dominant EB simplex, both with heterozygous KRT14 variants, and one had dominant dystrophic EB associated with a heterozygous COL7A1 variant. Eleven patients presented during the neonatal period, with a mean survival of four weeks, highlighting a high mortality rate, especially in the severe JEB cases. The cohort exhibited a balanced sex distribution, with no clear cases of consanguinity observed.Conclusion: JEB, with a recurrent pathogenic variant in LAMB3, emerged as the predominant subtype among African Zulu patients, underscoring the critical need for early diagnosis and tailored management strategies in resource‐limited settings. Integrating clinicopathological and genetic data is essential for accurate diagnosis and prognosis, emphasizing the importance of advanced diagnostic tools in improving outcomes for EB patients in South Africa.

Background. Although leprosy, a neglected tropical disease, has been eliminated (<1 case per 10 000 population) in South Africa (SA) since 1926, according to the World Health Organization, new cases continue to be reported. The management of leprosy poses several challenges, including patient adherence, education and insufficient training of healthcare practitioners. Objectives. To describe the biographical profile, clinical manifestations and treatment outcomes in patients with leprosy in KwaZulu-Natal Province. Methods. This retrospective study aimed to analyse the clinical data of leprosy patients in SA from 2002 to 2022. Data collected included patient demographics, comorbidities, cutaneous and neurological manifestations of leprosy, complications, treatment and adverse reactions. Descriptive statistics were used to summarise the data. Results. The study analysed the clinical data of 194 leprosy patients from 2002 to 2022. The majority of patients were male and middle aged, with a disproportionate representation of black South Africans. Regarding socioeconomic status, 80% were unemployed and 40% were social grant recipients. Most cases were clustered in urban centres and diagnosed at secondary care facilities, with 15% being HIV positive. The majority of patients (90%) were classified as having multibacillary leprosy. Common symptoms included upper respiratory tract involvement, hair loss and painful nerves, with the face and limbs being most frequently affected. Cutaneous morphology predominantly included plaques and hypopigmented patches, while neurological signs included ulnar nerve tenderness, muscle weakness and sensory deficits. Debilitating neurological complications were found in one-fifth of patients. Despite initiation of multidrug therapy in most patients, a significant proportion (27.3%) did not complete the full course of treatment, and treatment reactions were noted in 33.5% of patients. Conclusion. These findings emphasise the urgent need for enhanced patient and healthcare worker education, particularly in primary healthcare settings, to improve adherence to treatment, advocate for prophylactic measures and prevent new cases. Achieving leprosy-free status in SA requires the collaboration of many role-players to address these challenges and improve healthcare practices.

Background: Epidermolysis bullosa (EB) is a rare, incurable genodermatosis that presents with blistering and skin fragility. Complications can be localised or generalised, limited to the skin or have systemic effects resulting in death. Caring for a child with this painful condition can have a profound effect on the quality of life of parents and the family. There is currently no published research on the lived experience of parents caring for a child with EB in a resource-limited environment in Africa. Method: This qualitative research used interpretative phenomenological analysis with the aim of understanding the lived experiences of parents caring for children with EB. Semi-structured interviews were conducted with 13 participants between May 2022 and October 2023. Guba’s framework of trustworthiness was used to ensure rigour. Results: Seven experiential themes with associated sub-themes were identified. The themes were (1) grappling with understanding EB, (2) the psychological experience, (3) living with the responsibility, (4) barriers to feeling supported, (5) changing relational dynamics, (6) experience of healthcare professionals and (7) parental needs. Conclusion: Parents caring for children with EB face emotional, physical, psychosocial and financial challenges. Addressing parents’ needs and concerns will go a long way in decreasing this burden. A biopsychosocial approach with an awareness of cultural context is essential for family-centred holistic EB care. Contribution: This is the first study in Africa that focussed on the lived experiences of parents caring for a child with EB.

The South African Family Practice is a peer-reviewed scientific journal, which strives to provide primary care physicians (and their teams), as well as researchers, with a broad range of scholarly work in the disciplines of family medicine, primary health care, rural medicine, district health and other related fields. SAFP publishes original research, clinical reviews, and pertinent commentary that advance the knowledge base of these disciplines.

Background: Epidermolysis bullosa (EB) is a rare genodermatosis that results in extreme skin fragility, for which there is no cure and may be fatal. The quality of life of patients affected may be greatly impacted. Aim: This study aims to understand the lived experiences of patients with EB. Setting: Intensive semi-structured interviews were conducted with three participants via Zoom, and a follow-up member checking session was held in person at the RARE-X conference. Methods: This qualitative research used interpretative phenomenological analysis with the aim of understanding the lived experiences of patients with EB. Semi-structured interviews were conducted with three participants using Lincoln and Guba’s framework of trustworthiness was used to ensure rigour. Results: Three adult participants shared in-depth experiences of living with EB. Four themes with subthemes were identified: (1) medical damages, (2) development trajectory, (3) subjective well-being and life satisfaction and (4) sources of resilience and support. Conclusion: Epidermolysis bullosa affected all developmental stages of life, impacting them physically, emotionally, socially and financially. They shared their concerns relating to a lack of knowledge of healthcare practitioners (HCPs) in managing their illness and society for judging their condition. There is a need for comprehensive biopsychosocial care of patients and their families, as well as continued medical education for HCPs and awareness of society regarding this debilitating condition. Contribution: To our knowledge, this is the first study in Africa focused on the lived experiences of patients with EB. This highlights the physical, psychosocial and financial challenges that patients with rare diseases encounter in our local setting.

Health SA Gesondheid promotes communication, collaboration and teamwork between professions and disciplines within the health sciences to address problems that cross and affect disciplinary boundaries.