Review of the spectrum of tuberous sclerosis complex: The Saudi Arabian Experience.

OBJECTIVES: To determine the prevalence of tuberous sclerosis complex (TSC) in the paediatric Saudi population and to characterise the range of clinical symptoms, neurocutaneous findings, neuroimaging results, and complications of the disease. METHODS: A total of 61 genetically confirmed TSC patients from the National Guard Health Affairs (NGHA) in Saudi Arabia were the subject of this retrospective descriptive analysis. The data were presented using descriptive measures. RESULTS: The mean age at diagnosis was found to be 4.9 years. Subependymal nodules (86.9%), numerous cortical tubers and/or radial migration lines (63.9%), and hypomelanotic macules (63.9%) were the 3 most common significant criteria. The vast majority (86.9%) of those diagnosed had epilepsy, of which 50% were considered medically intractable. Nearly half of our subjects underwent genetic testing, which revealed that TSC2 predominated over TSC1. Symptoms of Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) were present in 66.7% of TSC1 patients and 73.9% of TSC2 patients. CONCLUSION: The findings of this study demonstrate that the clinical spectrum of TSC among Saudi children is consistent with the body of existing literature. The TSC2 was more prevalent than TSC1. The most frequent signs were cutaneous and neurological. Monitoring TSC patients regularly is crucial to identify any issues as soon as possible.

Epidemiology and Outcomes of Neurofibromatosis Type 1 (NF-1): Multicenter Tertiary Experience.

Purpose: The aim of this manuscript was to assess the epidemiology and clinical features of Neurofibromatosis type 1 (NF-1) based on the newly published revised NF-1 diagnostic criteria and to evaluate complications of NF-1 including neurodevelopmental disorders. Patients and methods: A retrospective cross-sectional observational study was conducted in the Ministry of National Guard Health Affairs (MNGHA) healthcare organization branches including four tertiary hospitals and 51 primary health care centers in different regions in Saudi Arabia. This study included all patients diagnosed with NF1 using the revised NIH diagnostic criteria published in 2021 that were registered at the electronic medical records (EMR) from 2015 to 2021. Results: A total of 184 patients fulfilled the diagnostic criteria and were included in this study. The median age at diagnosis was 11 years (IQR: 4.00-20.25). The most encountered diagnostic criteria in this study were Café-au-lait macules (85.3%), and (42.9%) were found to have two or more neurofibromas with plexiform neurofibroma being the most common subtype (23.36%), approximately (36.4%) of the patient with optic pathway glioma. Nearby (26.6%) of the patients displayed different type of tumors. Iris Lisch nodules were presented in 36.4% of patients at a median age of 12 years (IQR: 9.0-21.8). Cardiovascular abnormality was encountered in 9.8% of the patients. Around 27.7% of the patients reported headache and 11.4% of the patient suffered from different type of epilepsy. Besides, 10.5% of the patients had intellectual disability, 33.8% suffered from communication disorders, and 4.9% patients had ADHD. Conclusion: The results of this study will enable practitioners to adopt a more holistic approach and prioritize numerous attributes, which they can subsequently incorporate into their therapeutic methodologies. Furthermore, the identification of these attributes will facilitate an expeditious and accurate diagnosis. Hence, the implementation of intervention during its nascent phase may result in a more advantageous consequence.

Correction: Clinicopathological Profile of Dermatitis Herpetiformis Patients in Saudi Arabia.

[This corrects the article DOI: 10.7759/cureus.48045.].

Clinicopathological Profile of Dermatitis Herpetiformis Patients in Saudi Arabia.

Objectives The aim of this study was to describe the clinical, serological, and histopathological features of patients with dermatitis herpetiformis (DH) in Saudi Arabia. Methods We retrospectively reviewed the medical charts of all patients diagnosed with DH in the dermatology departments of National Guard Health Affairs (NGHA) hospitals in five different cities, from 2016 to 2022. We included patients who had been diagnosed by a dermatologist and had a combination of typical DH skin lesions, positive immunoglobulin A (IgA) on direct immunofluorescence (DIF), and/or positive tissue transglutaminase (tTG) IgA. Results A total of 11 patients were included. Their average age was 43.6 ± 12.5 years, and the ratio of females: males was 2.7: 1. Among the eight skin biopsies performed, IgA was detected on DIF in five patients. Seven out of nine patients (77.8%) had positive tTG IgA. Nine patients were managed with dapsone and a gluten-free diet (GFD); they had excellent responses within months. Conclusion The profiles of Saudi patients with DH were similar to those of Caucasian patients, but DH appears to be less common in Saudi Arabia. The high positive rates of tTG IgA make it an important tool for diagnosis in unclear cases. Dermatitis herpetiformis is likely associated with underlying gluten-sensitive enteropathy in Saudi patients.

Assessment of dermatologists' perception of utilizing teledermatology during COVID-19 pandemic in Saudi Arabia.

OBJECTIVES: To assess teledermatology (TD) perception among dermatologists in the Kingdom of Saudi Arabia during the COVID-19 pandemic and to identify the most common advantages and disadvantages of TD. METHODS: We conducted a cross-sectional survey-based study to address Saudi dermatologist perceptions of TD from July 2020 to December 2020, during Covid-19 pandemic. RESULTS: Out of 664 emails sent, 107 complete responses were returned. Approximately 40.2% used TD through phone calls, followed by those who used a virtual clinic (32.7%). Also, the best way to use TD, according to respondents, was for triage before inpatient and outpatient visits. When we compared the use of TD in the outpatient and inpatient settings, outpatient responses always had more positive attitudes than inpatients. The most important benefit of TD is to reduce the risk of pandemic infections (69%). More than half of the participants sometimes used TD for diagnosis (n=63, 58.9%) and management (n=59, 55.1%), and 69 (64.5%) considered using it in the future. CONCLUSION: Our survey-based study indicates that TD is an important part in the future dermatology because our participants agreed that TD decreases cost, increases access to dermatology care, and reduces the risk of pandemic infections. And it is necessary to establish an infrastructure for TD that protects patient's privacy and ensures accurate diagnosis.

Prevalence and Clinical Characteristics of Alopecia Areata at a Tertiary Care Center in Saudi Arabia.

RESULTS: A total of 216 patients with AA were included. The overall prevalence of AA was approximately 2.3%. The mean disease duration at the time of presentation was 2 months while the mean age of onset was 25.61 years. The most common type of AA in both adult and pediatric groups was the patchy type involving the scalp. Comorbid diseases were found in 32.41% of patients. Common associated conditions included hypothyroidism, diabetes mellitus, and atopic diseases. CONCLUSION: The overall prevalence of AA among a population of Saudi patients is 2.3%. AA prevalence is higher in pediatrics than adults. Common comorbid conditions include hypothyroidism, diabetes mellitus, and atopic diseases.

Practical techniques to enhance the safety of health care workers in office-based surgery.

BACKGROUND: Office-based surgery is commonly practiced in different specialties for a variety of procedures. During these procedures, the health care worker (HCW) is exposed to a large number of pathogens that can be bloodborne, including the hepatitis B virus (HBV), hepatitis C virus (HCV), and human immunodeficiency virus (HIV). These pathogens can be transmitted through needlesticks or sharp injuries to intact skin or by backsplash of contaminated body fluids onto mucous membranes or injured skin. OBJECTIVES AND CONCLUSIONS: This article reviews the published techniques designed to protect the HCW from such hazards. These techniques are classified into preoperative, intraoperative, and postoperative. Preoperative measures include general protective measures, organization of the surgical field, and consideration of alternative treatments in high-risk patients. Intraoperative techniques deal with safe handling and transferring of sharp instruments, working without using sharps, and protection from backspray injuries. Postoperative measures address proper disposal of used sharps.

Fish tank granuloma: misdiagnosed as cutaneous leishmaniasis.

Mycobacterium marinum is an atypical mycobacterium that causes a skin infection known as fish tank granuloma or swimming pool granuloma affecting people who are exposed to aquatic environments. In general, it is managed medically with antimicrobials and variable treatment protocols. Here, we report a Saudi gentleman who acquired this infection in Thailand and was misdiagnosed as cutaneous leishmaniasis. After establishing the correct diagnosis, treatment with minocycline and trimethoprim-sulfamethoxazole resulted in rapid healing.