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Novel Missense DNA Variants in the IL2RG Gene Identified in Slovak X-linked Severe Combined Immunodeficiency Disease Patients: A Case Report.
Cureus
December 2024
Laboratory of Genomic Medicine, GHC GENETICS SK, Comenius University Science Park, Bratislava, SVK.
X-linked severe combined immunodeficiency disease (X-SCID) is a form of inborn errors of immunity (IEI) associated with causal DNA variants of the gene. Patients with X-SCID are characterized by a combination of cellular and humoral immunodeficiencies associated with increased susceptibility to infections. The presented cases constituted two unrelated male patients from the Slovak population.
View Article and Find Full Text PDFEffectiveness of potent topical corticosteroids versus mild ones in primary care for children with moderate flare-ups of atopic dermatitis; results of a randomised controlled trial.
BMJ Open
December 2024
Department Dermatology, Center of Pediatric Dermatology, Erasmus MC University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.
Objective: To assess the effectiveness of a potent topical corticosteroid (TCS) as an initial treatment in primary care for children with moderate flare-ups of atopic dermatitis (AD), compared to starting on a mild TCS.
Design: An observational prospective cohort study with an embedded pragmatic multicentre open-label randomised controlled trial.
Setting: A total of 53 general practices in the southwest of the Netherlands took part in the study.
Phototoxic reaction to oral terbinafine due to Tinea capitis in a child.
Acta Dermatovenerol Croat
November 2024
Prof. Ana Bakija-Konsuo, MD, PhD, Clinic for Dermatovenerology CUTIS, Vukovarska 22, Dubrovnik, Croatia;
We report the case of an 18-month-old boy who developed a phototoxic skin reaction to terbinafine on his scalp, ears, and face in the form of disseminated erythematous plaques, which resembled subacute lupus erythematosus (SCLE) in their clinical presentation. Skin changes appeared a short time after the boy was exposed to sunlight during the period of time when he was treated with oral terbinafine due to Microsporum canis fungal scalp infection. Tinea capitis is a common dermatophyte infection primarily affecting prepubertal children (1).
View Article and Find Full Text PDFAcute generalized exanthematous pustulosis is a severe cutaneous adverse reaction characterized by the rapid onset of nonfollicular, sterile pustules on an erythematous base, typically accompanied by fever (≥38 °C), neutrophilia (7.0 × 10⁹/L), and characteristic histopathological features. This case report presents the first documented instance of acute generalized exanthematous pustulosis after hyaluronic acid viscosupplementation.
View Article and Find Full Text PDFEditor's Highlights-February 2025.
Int J Dermatol
January 2025
Department of Dermatology and Allergology, University of Szeged, Szeged, Hungary.
Understanding the pathophysiology of inflammatory skin diseases, including psoriasis, atopic dermatitis (AD), and prurigo nodularis (PN), has led to the development of innovative treatments. In the February issue of the Journal, we provide insight into the global epidemiology and psychosocial impact of psoriasis. We also discuss the role of tissue-resident memory T cells in disease recurrence and evaluate the effectiveness of tildrakizumab in treating difficult areas in psoriasis.
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