Inborn errors of immunity (IEI) can affect different parts of the immune system and manifest especially through pathological infection susceptibility and immune dysregulation. Cutaneous manifestations of IEI can hint at the underlying immunodeficiency and the tendency for infection and inflammation. These manifestations can present as recurring eczema, erythema, abscesses, and hair loss with poor response to therapy. Cutaneous manifestations can be specific for certain IEI, or rather unspecific. Together with clinical course and severity, they can indicate the diagnosis. Early and accurate recognition, diagnosis, and treatment are crucial for optimizing patient outcomes. The diagnosis can be determined through a detailed patient history, clinical examination, and immunological diagnostics. Collaboration between immunologists and dermatologists is vital for comprehensive care and improvement of life quality.
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http://dx.doi.org/10.1007/s00105-024-05331-w | DOI Listing |
Rheumatology (Oxford)
January 2025
Department of internal medicine, CHU Cochin, AP-HP, Paris Cité University, Paris, F-75006, France.
Objectives: Urticarial vasculitis (UV) is characterized by atypical urticarial lesions and leukocytoclastic vasculitis, sometimes with extracutaneous manifestations. First-line treatment is based on colchicine, hydroxychloroquine, dapsone or low-dose glucocorticoids. In refractory forms, the use of biologics has been anecdotally described as potentially effective.
View Article and Find Full Text PDFZhonghua Er Ke Za Zhi
January 2025
Department of Gastroenterology and Infectious Diseases, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai200062, China.
To summarize the clinical features, laboratory findings, treatment and prognosis of children confirmed as -induced rash and mucositis (MIRM) in children. This retrospective study concluded 6 children diagnosed as MIRM in Department of Gastroenterology and Infectious Diseases, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University from August 2023 to April 2024. This paper described the characteristics of MIRM and analyzed the therapeutic strategy and prognosis.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Urology, Barwon Health, Geelong, Victoria, Australia.
Adenoid cystic carcinoma (ACC) is a rare head and neck cancer; even more infrequently, it presents as a primary lesion at other sites. Due to ACC's usual pattern of perineural and perivascular spread, it often manifests in delayed local recurrence and distant metastases. Metastasis to the kidney is very rare with as few as 15 cases reported in the literature.
View Article and Find Full Text PDFLasers Med Sci
January 2025
Department of Clinical Sciences, Sapienza University of Rome, Rome, Italy.
Backgrounds And Aims: Submental skin laxity (SSL), manifesting as sagging skin and double chin, can significantly affect patients' self-perception and social interactions. While surgical treatments exist, non-invasive methods are increasingly sought for their minimal recovery time. This study assesses the safety and effectiveness of a novel microwave-based device for treating SSL, aiming to provide long-term improvements in skin tightness and appearance.
View Article and Find Full Text PDFJAAD Case Rep
February 2025
Metabolic Disorders Division, Children's Hospital of Orange County, Orange, California.
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