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INTRODUCTION: Neurofibromatosis type 1 (NF1) is an inherited neuroectodermal abnormality with multisystem effects, which can have heavy psychological and physical burdens, especially in countries like India, wherein skin disease is significantly stigmatized. This study was performed to understand the clinical and epidemiological trends of NF1 at a tertiary care center in India and evaluate the association between clinical severity and quality of life in these patients. METHODS: We conducted a cross-sectional study of 40 patients with NF1 over a period of two years at a tertiary hospital in western India. After obtaining consent, demographic and clinical information was collected from the patients and recorded in a pre-designed proforma. Quality of life was assessed by a validated Dermatology Life Quality Index (DLQI) questionnaire in languages understood by the patients and subsequently analyzed. RESULTS: This study included 40 patients at a mean age of 28.6 years, with a slight male predominance. The most frequently occurring lesions were café-au-lait macules, followed by neurofibromas and intertriginous freckling. The mean DLQI score was 12.35, implying a large effect on most patients' lives. Questions related to self-consciousness, embarrassment, and the influence of skin lesions on clothing choices had the highest scores, indicating a significant effect on social perception. CONCLUSION: NF1 has a profound impact on a patient's quality of life, as evidenced by the high DLQI scores in our patient cohort. The early identification and management of such patients can help prevent further deterioration of their quality of life.
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Objective The pathophysiology of polymorphic light eruption (PMLE) is uncertain; however, it is considered to commonly involve an autoimmunological mechanism. It is a common condition, usually affecting subjects staying at temperate latitudes, and presents with eruptions post-exposure to sunlight and artificial UVR (ultraviolet radiation), lasting from hours to, in rare cases, days of exposure. This present study aims to compare biochemical thyroid function tests in cases of PMLE. Methodology The present case-control study was conducted with a total of 120 participants. Patients with polymorphic light eruption aged 18 years or above of either sex attending the dermatology outpatient department were included in the study. TSH (thyroid-stimulating hormone), T3 (triiodothyronine), and T4 (thyroxine) were analyzed among the participants. The data was recorded on a Microsoft Excel spreadsheet and analyzed using SPSS Statistics v. 21 (IBM Corp., Armonk, NY). The qualitative data was assessed in the form of numbers and percentages and the quantitative data was assessed using measures of central tendency such as mean and standard deviation. A chi-square test was applied to find out the association and their strength between the variables to validate the findings of the study. A p-value <0.05 was considered to be statistically significant. Results The TSH was elevated in 56 (93.3%) cases and two (3.3%) among the controls; T3 and T4 were low in 24 (40%) cases, and in seven (11.7%) among the controls. Conclusion PMLE usually has an autoimmune basis for its occurrence; similarly, thyroid disorders being themselves autoimmune in origin might lead to hypersensitivity reactions and generation of autoantibodies. We suggest that screening for thyroid should be conducted for all PMLE patients as they are at higher risk of developing thyroid disorders. The relationship between the two should be studied with a much larger cohort of participants to evaluate whether this is autoimmune-related or accidentally related.
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Background Urticaria, a vascular reaction of the skin, is marked by the transient appearance of erythematous papules or plaques (wheals) of varying sizes that are blanchable and associated with severe pruritus which lasts from a few hours to days. The etiological factors for urticaria include food, drugs, bacterial foci, pollen, fungi, dust, worms, physical stimuli, stress, anxiety, insect stings, etc. Skin prick tests (SPTs) represent the cheapest and most effective method to diagnose immunoglobulin E-mediated type 1 allergic reactions such as urticaria. A history suggestive of clinical sensitivity supported by a positive test strongly implicates the allergen in the disease process. In this study, we aimed to detect the common allergens and correlate the findings of SPTs with various epidemiological characteristics of urticaria patients. Methodology A total of 100 patients with urticaria were included in this study. After receiving written and informed consent from patients, SPTs using a battery of 45 allergens were performed. Results In our study, SPT positivity was seen in 88 (88%) patients. The highest sensitization was noted toward Dermatophagoides pteronyssinus (house dust mite) (30%), followed by D. farinae, Cynodon dactylon, and peanuts (each comprising 24%), and Ailanthus excelsa (20%). Conclusions Finding the causative allergen in urticaria is often a difficult and long-drawn process, both for the physician and the patient. Our study identified an allergen in 88% of patients with urticaria, thereby showing that the SPT is a cost-effective, easy, and reliable tool for diagnosing and guiding treatments in urticaria patients.
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Introduction Chronic venous insufficiency (CVI) is characterized by inadequate functioning of venous valves in the lower limb. CVI is associated with a significant reduction in patient's quality of life (QOL). The severity of CVI was determined by CEAP (clinical, etiological, anatomical, pathophysiological) classification and venous clinical severity score (VCSS). The study is aimed to evaluate and correlate Dermatology Life Quality Index (DLQI) with VCSS, CEAP in patients with CVI. Methods A cross-sectional study of 57 patients with CVI was conducted over a period of 12 months. A sociographic survey, clinical and severity grading using CEAP classification, and VCSS were done for all venous doppler confirmed patients. QOL was evaluated by validated DLQI questionnaires using English and native languages Hindi and Marathi. Results A total of 57 patients with a male to female ratio of 6.1:1 and a mean age of 51.68 years were included in the study. CEAP grading in patients showed 49.12% (C4a), 21.05% (C6), 15.7% (C4b), 7.01% (C3), 3.50% (C2 and C5). Mean VCSS and DLQI were 11.47 and 10.12, respectively; 49.12%, 40.35%, 10.53% of patients had a moderate, very large, and small impact on DLQI respectively, positively correlating to VCSS (P < 0.001). Conclusion From this study, it was observed that VCSS and CEAP positively correlated with DLQI, and the impact increases in proportion with the seriousness of the disease.
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Infantile hemangiomas (IHs) are the most common vascular soft-tissue tumors of newborns and early childhood with a prevalence rate of approximately 4%-5% in infancy. Most of the IHs regress spontaneously after initial proliferation. Ulceration is one of the most common complications seen in IHs, which heal poorly without treatment. The prevalence of IHs is three times more in females compared to males. The most common location of IH is head and neck with the least being in extremities Oral propranolol and systemic corticosteroids are used as first-line therapy in the treatment. Topical timolol has been used as an alternative to counteract the long-term side effects of the prior modalities. In this study, we are reporting and presenting case reports of two female infants with ulcerated IH who were treated with oral propranolol and topical timolol, respectively, and comparing the efficacy of one over the other. we observed fast and efficacious healing with oral propranolol when used with proper monitoring, as compared to topical timolol, although the latter is more commonly used as it is safer with fewer potential side effects.
