Myotonic dystrophy type 1 (MD1) (OMIM 160900, Steinert disease) is the most common muscular disease, with an estimated worldwide prevalence ranging from 0.5 to 18/10,000 (1). MD1 is an autosomal dominant multisystem disorder that affects skeletal and smooth muscles as well as eyes, heart, endocrine system, and central nervous system. Available data on skin and adnexal involvement that has been demonstrated as a hallmark of the neurological disease are still poor. The aim of this case report-based, mini review on MD1 and skin is to highlight the importance of such superficial signs to be easily detected in the physical examination, and to evaluate the occurrence of these cutaneous manifestations in presence of various degrees of the disease and gene mutations.
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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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