Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.

EPIDERMOLYSIS: Bullosa is a rare hereditary skin condition that causes blisters. Genes encoding structural proteins at or near the dermal-epidermal junction are mutated recessively or dominantly, and this is the primary cause of EB. Herein, two Chinese boys were diagnosed with the condition, each with a different variant in a gene that serves as a reference for EB genetic counseling. Skincare significantly impacted their prognosis and quality of life. CASE PRESENTATION: Two Chinese boys, with phenotypically normal parents, have been diagnosed with distinct blister symptoms, one with Dominant Dystrophic Epidermolysis Bullosa and the other with a severe form of Epidermolysis Bullosa Simplex. The first patient had a G-to-A variant in the COL7A1 allele, at nucleotide position 6163 which was named "G2055A". The proband is heterozygous for Dystrophic Epidermolysis Bullosa due to a COL7A1 allele with a glycine substitution at the triple helix domain. A similar variant has been discovered in his mother, indicating its potential transmission to future generations. Another patient had severe Epidermolysis Bullosa Simplex with a rare c.377T > A  variant resulting in substitution of amino acid p.Leu126Arg (NM_000526.5 (c.377T > G, p.Leu126Arg) in the Keratin 14 gene. In prior literature, Keratin 14 has been associated with an excellent prognosis. However, our patient with this infrequent variant tragically died from sepsis at 21 days old. There has been a reported occurrence of the variant only once. CONCLUSION: Our study reveals that Epidermolysis Bullosa patients with COL7A1 c.6163G > A and KRT14 c.377T>A variants have different clinical presentations, with dominant forms of Dystrophic EB having milder phenotypes than recessive ones. Thus, the better prognosis in the c.6163G > A patient. Furthermore, c.377T>A patient was more prone to infection than the patient with c.6163G>A gene variant. Genetic testing is crucial for identifying the specific variant responsible and improving treatment options.

A call for change: addressing the implementation strategy using pre exposure Prophylaxis for combating the escalating HIV crisis in Zanzibar's key populations.

The Integrated Bio-Behavioural Surveillance Survey of 2022-2023 among key populations report from Zanzibar has been released. The prevalence of HIV is estimated to be 21.1%, 11.4%, and 9.3% among Female Sex Workers, Men who have Sex with Men, and People Who Injected Drugs, respectively. This has prompted a closer examination of the factors contributing to this trend, with a particular focus on the low coverage of Pre-Exposure Prophylaxis in these key populations. The current prevalence reported in December 2023 signals a critical turning point that necessitates a reevaluation of the barriers and facilitators of Pre Exposure Prophylaxis intervention to combat the epidemic. It is imperative to acknowledge the severity of the situation and take decisive action to prevent further spread of the virus in the Isles.

The hidden effects of COVID-19 on HIV services in Zanzibar: country report.

The COVID-19 pandemic has had a major effect on HIV-related healthcare services. Zanzibar has experienced several interruptions of HIV services in the areas of testing and counselling, prevention of mother-to-child transmission of HIV, key population, care and treatment services as well due to the hospital operating at a reduced capacity and the strict visit restrictions with health care allocations to COVID 19 pandemic. The community HIV initiatives, such as index testing and ARVs medicine refills, were used to mitigate the consequences of the epidemic and can be applied in future emergencies. This report tries to reveal COVID-19's unnoticed consequences on HIV services in Zanzibar.