Investigating the Prevalence, Gender Predilection, and Inheritance Patterns of Genodermatoses: A Tertiary Hospital Study.

Genodermatoses encompass a spectrum of hereditary skin disorders stemming from mutations in genes pivotal for skin development, structure, and function. This study investigated the prevalence, gender predilection, and inheritance patterns of genodermatoses in a tertiary-level hospital through a one-year observational study. Among 157,051 dermatology outpatient department patients, 105 cases of genodermatoses were diagnosed, yielding a prevalence rate of 0.067%. Hamartoneoplastic syndromes and inherited disorders of cornification were the most prevalent subgroups, with neurofibromatosis type 1 and tuberous sclerosis complex 1 leading within these categories. The average age at presentation varied among different subgroups. A 2:1 male-to-female ratio was observed across all subgroups. Autosomal dominant inheritance was predominant. A positive family history in 46 cases and consanguinity among parents in 28 instances was reported. Genodermatoses pose diagnostic challenges due to their clinical complexity and rarity, which is compounded by limited epidemiological data. Molecular diagnosis advancements offer insights into genotype-phenotype correlations and facilitate genetic counseling and prenatal diagnosis (PND). Raising awareness among healthcare professionals and the public is critical for improving the quality of life for affected individuals.

Managing a Misdiagnosed Case of Nevus Sebaceous.

A male patient in his early 20s presented to our outpatient clinic, having previously been misdiagnosed and unsuccessfully treated as a case of viral warts. Dermoscopic and histopathological evaluations revealed characteristic features of the nevus sebaceous. The lesion was eventually treated with an erbium-doped yttrium aluminum garnet (Er:YAG) laser after the patient declined surgical excision. Nevus sebaceous often presents with verrucous surfaces that make misdiagnosis common. A correct diagnosis is crucial due to potential neoplastic transformations. Histopathological analysis is essential for both the confirmation of disease and the exclusion of malignancy. Full-thickness surgical excision remains the preferred treatment.

A Unique Presentation of Secondary Syphilis With Painful Target Lesions.

Syphilis, caused by Treponema pallidum subsp. pallidum, remains a global health challenge, with a significant burden of new cases annually. The disease disproportionately affects men who have sex with men (MSMs) and endemic, low-income regions. While secondary syphilis typically manifests with a polymorphic rash, individuals with human immunodeficiency virus (HIV) coinfection may present with varied signs and symptoms. Here, we report a case of a 21-year-old male student with painful target lesions on his genitalia, deviating from the typical syphilis presentation. He was found to have concurrent molluscum contagiosum and HIV-1 infection. Serologic testing confirmed syphilis and anti-HIV-1 antibodies. Prompt initiation of antiretroviral therapy and benzathine penicillin G led to symptom resolution. This case highlights the importance of recognizing atypical painful target lesions as a potential manifestation of syphilis, especially in patients with HIV coinfection, to ensure timely diagnosis and treatment.

Response to Ceftriaxone in Asymptomatic Neurosyphilis Refractory to Doxycycline and Benzathine Penicillin.

An asymptomatic male in his mid-30s presented with a positive Venereal Disease Research Laboratory (VDRL) test report. He was investigated and detected to be reactive for human immunodeficiency virus (HIV)-1 antibodies. A lumbar puncture revealed cerebrospinal fluid (CSF) VDRL to be reactive at a titer of 1:160 which led to a diagnosis of asymptomatic neurosyphilis. The unavailability of first-line antibiotics necessitated the search for alternative regimens. The patient was administered oral doxycycline 200 mg twice daily for 28 days along with intramuscular benzathine penicillin 2.4 million units once weekly for three weeks. A repeat CSF-VDRL performed six months later with raised titers of 1:320 indicated treatment failure. The patient was then administered ceftriaxone 1 g intramuscularly for 14 consecutive days. A final CSF-VDRL examination performed six months later showed non-reactive titers.

Navigating Treatment Dilemmas: Recalcitrant Pemphigus and the Burden of Multiple Comorbidities.

Pemphigus vulgaris is a chronic autoimmune disease of the skin caused by the production of autoantibodies targeting desmogleins 1 and 3 usually presenting in individuals with an average age of onset of approximately 40 years. A 35-year-old obese, diabetic woman presented with fluid-filled lesions over her body for three months along with erosions and painful ulcers in her mouth and genital area for two months. Based on clinical and histopathological studies, the patient was diagnosed as a case of pemphigus vulgaris. She was started on conventional treatment with oral corticosteroids followed by pulse therapy and mycophenolate mofetil. Rituximab infusion was scheduled but could not be administered due to elevated D-dimer values. The patient underwent screening for deep vein thrombosis (DVT) and received subcutaneous enoxaparin and oral rivaroxaban. She developed severe sepsis for which she was treated with systemic antibiotics. She subsequently developed acute renal failure and underwent hemodialysis. The patient's clinical condition further deteriorated, which necessitated therapeutic plasma exchange (TPE). Collagen, colloidal silver, and silicone foam dressings were done to hasten wound healing. Two distinct approaches were employed to eliminate the pseudomembrane on the wounds. One portion was treated with hydrogen peroxide (H2O2), while the other was with hyaluronidase. The hyaluronidase treatment resulted in considerable improvement of the lesions. Intravenous immunoglobulin (IVIG) infusion was scheduled. However, the treatment could not be administered as the patient succumbed to death due to pulmonary thromboembolism (PTE) secondary to DVT.

Association Between Internet Addiction, Depression and Sleep Quality Among Undergraduate Students of Medical and Allied Sciences.

BACKGROUND: The use of the internet is growing rapidly worldwide with easier availability and affordability in developing countries like Nepal. Apart from several benefits, it has also led to deleterious effects on certain individuals' physical and mental well-being. The present study aimed to assess the burden of internet addiction among nursing, dental and medical undergraduates at a medical school, and examine its relationship with depression and sleep quality. METHODS: A cross-sectional study among 494 students pursuing nursing, dental and medical undergraduate courses at the same medical college in Nepal was conducted. The burden of internet addiction, depression, and sleep disturbance was assessed using Young's Internet addiction test, Beck's depression inventory, and Pittsburgh Sleep Quality Index questionnaires respectively. RESULTS: The majority of respondents reported either controlled use of internet or mild problem with internet use. However, 4.7% of respondents reported significant problems due to internet use. Further, about 42.3% reported poor sleep quality, and 8.9% screened positive for depression. In both chi-square and logistic regression analyses, internet addiction was significantly associated with poor sleep quality and depression. CONCLUSION: The study shows that about half of the participants experienced at least some problems and a small but significant proportion of them reported severe problems due to internet use. This warrants the need to address the issue of internet addiction among medical and allied sciences students in Nepal. Further, internet addiction is associated with both depression and poor sleep quality, highlighting a need to develop effective interventions targeting all three problems holistically.