Kindler syndrome is an autosomal recessive disorder characterized by neonatal blistering, sun sensitivity, atrophy, abnormal pigmentation, and fragility of the skin. Linkage and homozygosity analysis in an isolated Panamanian cohort and in additional inbred families mapped the gene to 20p12.3. Loss-of-function mutations were identified in the FLJ20116 gene (renamed "KIND1" [encoding kindlin-1]). Kindlin-1 is a human homolog of the Caenorhabditis elegans protein UNC-112, a membrane-associated structural/signaling protein that has been implicated in linking the actin cytoskeleton to the extracellular matrix (ECM). Thus, Kindler syndrome is, to our knowledge, the first skin fragility disorder caused by a defect in actin-ECM linkage, rather than keratin-ECM linkage.

Background: Vaccination against SARS-CoV-2 is important for reducing hospitalization and mortalities. Both Pfizer-BioNTech (BNT162b2) and the Oxford-AstraZeneca (ChAdOx1 nCoV-19) vaccines are used in Saudi Arabia and in many parts of the world. Post-vaccinal side effects were recorded, so we aimed to screen different complaints after vaccination among vaccinees in Saudi Arabia.Methods: An online questionnaire was designed to screen the local, systemic, and allergic post vaccination reactions for vaccinees who received either one or two doses of the BNT162b2 vaccine or one dose of the ChAdOx1 vaccine. The number and percentage were recorded for each response and analyzed using cross-tab and Chi square tests. The degree of the severity of post vaccination reactions were analyzed using Roc curve. The cofactors that may affect the severity of post-vaccinal reactions including previous COVID-19 infection, age, sex, body mass index, and comorbidities were investigated.Results: During our study, 4,170 individuals reported their responses: 2,601 received one dose of BNT162b2, of whom 456 completed the second dose, and 1,569 received a single dose of ChAdOx1. The side effects were reported in 85.6% of BNT162b2 vaccinees and 96.05% of ChAdOx1 vaccinees who voluntarily responded to a survey about post-vaccination side effects. The side effects were more severe in BNT162b2 than ChAdOx1. ChAdOx1 vaccinees reported mild, moderate, severe and critical side effects in 30.13, 28.62, 29.73, and 1.53%, respectively. In contrast, mild side effects were recorded among the majority of BNT162b2 vaccinees (63.92%) while moderate, severe, and critical side effects were 27.67, 7.68, and 0.72%, respectively. Both local and systemic side effects were recorded more frequently in ChAdOx1 in comparison to BNT162b2 vaccinees. Palpitation was among the new systemic side effects reported in the current study in high frequency. Abnormal menstrual cycle (delaying/increase hemorrhages or pain) was also reported in 0.98% (18/1846) of Pfizer-BioNTech and 0.68% (7/1028) of ChAdOx1 vaccinees, while deep vein thrombosis was only reported in a single case vaccinated with BNT162b2 vaccine.Conclusion: Both vaccines induced post-vaccinal side effects; however, ChAdOx1 induces a higher frequency of post-vaccinal systemic side effects than BNT162b2.

We describe dyschromatosis universalis in a 19-month-old Saudi Arabian girl. She had no associated defects and none of the other family members were affected. Similar cases reported from countries other than the Far East, where the disease was first described, are discussed.

The World Health Organization Global Vaccine Action Plan aims to accelerate the control of preventable diseases, including seasonal influenza; however, seasonal influenza vaccination reluctance persists. The current study aimed to assess the knowledge and attitudes of Saudi nationals regarding seasonal influenza vaccinations. An anonymous questionnaire was targeted to Saudi nationals for self-enrolment in this study. Data were analyzed using descriptive and chi-squared analyses. This study included 1298 Saudi nationals (745 males and 553 females) who were ≥19 years old. A total of 44.53% of the participants had been vaccinated with the seasonal influenza vaccine. In total, 26.96% of the participants were certain that there were no contradictions between the influenza vaccine and other childhood vaccines and 36.67% knew that individuals with chronic diseases should be given the seasonal influenza vaccine. By contrast, only 123 of the participants (9.48%) understood that pregnant women could be vaccinated with the influenza vaccine. Vaccinated participants in our study showed a higher level of knowledge compared to non-vaccinated participants. Most of the participants reported that the most reliable source of information was healthcare worker advice. The current study provides important information regarding misperceptions in public attitudes towards seasonal influenza vaccinations; these data can be used to plan strategies to address existing gaps in healthcare.

We report a large consanguineous Saudi-Arabian pedigree containing 11 individuals with the autosomal recessive genodermatosis, Kindler syndrome. Three affected cases died in infancy but the remaining eight had signs of photosensitivity, generalized poikiloderma, webbed fingers, loss of dermatoglyphics and nail dystrophy. The majority also had oral involvement with bleeding gums. Additional features seen in some cases included pseudoainhum of the toes, sclerotic bands on the wrists and hand deformities. The aetiology of Kindler syndrome is not yet known, but the underlying defect leads to both cutaneous and oral inflammation, along with photosensitivity and scarring.

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Angioma serpiginosum distributed in a linear fashion along the upper extremity of an adolescent boy is described. Histopathologic examination revealed the characteristic numerous thick-walled capillaries in the dermal papillae.

Background: SARS-CoV-2, the causative agent of COVID-19, continues to cause a worldwide pandemic, with more than 147 million being affected globally as of this writing. People's responses to COVID-19 range from asymptomatic to severe, and the disease is sometimes fatal. Its severity is affected by different factors and comorbidities of the infected patients. Living at a high altitude could be another factor that affects the severity of the disease in infected patients.Methods: In the present study, we have analyzed the clinical, laboratory, and radiological findings of COVID-19-infected patients in Taif, a high-altitude region of Saudi Arabia. In addition, we compared matched diseased subjects to those living at sea level. We hypothesized that people living in high-altitude locations are prone to develop a more severe form of COVID-19 than those living at sea level.Results: Age and a high Charlson comorbidity score were associated with increased numbers of intensive care unit (ICU) admissions and mortality among COVID-19 patients. These ICU admissions and fatalities were found mainly in patients with comorbidities. Rates of leukocytosis, neutrophilia, higher D-dimer, ferritin, and highly sensitive C-reactive protein (CRP) were significantly higher in ICU patients. CRP was the most independent of the laboratory biomarkers found to be potential predictors of death. COVID-19 patients who live at higher altitude developed a less severe form of the disease and had a lower mortality rate, in comparison to matched subjects living at sea level.Conclusion: CRP and Charlson comorbidity scores can be considered predictive of disease severity. People living at higher altitudes developed less severe forms of COVID-19 disease than those living at sea level, due to a not-yet-known mechanism.