UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: The study setting is Nelson Mandela School of Medicine, Durban, and Grey\'s hospital, Pietermaritzburg, KwaZulu-Natal.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: This is the first study to explore THPs perceptions and practices regarding EB, a rare disease.

Autosomal recessive congenital ichthyoses (ARCI) are a genetically heterogeneous group of rare and chronic disorders characterized by generalized skin scaling and hyperkeratosis, erythroderma, and palmoplantar keratoderma. Additional features include ectropion, eclabium, ear deformities, foul-smell, joints contractures and walking problems, recurrent infections, as well as pruritus and pain. No curative therapy is available and disease care mainly relies on daily application of topical emollients and keratolytics to the whole-body surface. Altogether, disease signs and symptoms and treatment modalities have a major impact on quality of life of patients and their caregivers. However, very few studies have evaluated the family disease burden in ARCI.
We have performed an Italian multicenter cross-sectional study to assess the secondary disease impact on family members of pediatric and adult patients with ARCI, using a validated dermatology-specific questionnaire, the family dermatology life quality index (FDLQI). Disease severity was assessed by the dermatologist in each center.
Seventy-eight out of 82 patients who were accompanied by at least one family member filled the FDLQI. Forty-eight (61.5%) patients were aged less than 18 years. The mean FDLQI score was 10.3 (median 10), and the most affected dimensions were (1) time needed for care, (2) extra-housework, and (3) household expenditure. Higher total FDLQI score significantly correlated with more severe disease score (P = 0.003). Features associated with greater family burden included recurrent infections (P = 0.004), foul-smell (P = 0.009), palmoplantar keratoderma (P = 0.041), but also presence of scales on the face (P = 0.039) and ear deformities (P = 0.016).
Our findings highlight the major socio-economic and psychological burden imposed by ARCI on the QoL of family caregivers. In addition, they show that global evaluation of disease impact also on family members is an essential part of patient-reported outcomes. Finally, our data underline the need to develop specific measures for family support.