Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare subtype of dystrophic epidermolysis bullosa, and traditional treatments have limited efficacy. Dupilumab has demonstrated remarkable efficacy in relieving pruritus. In this case study, after traditional treatment failed, providers recommended the patient begin dupilumab to treat his pruritus. The patient was administrated a loading dose of 600 mg of dupilumab and a dose of 300 mg every 2 weeks. The Dermatology Life Quality Index and Pruritic Numeric Rating Scale were used to assess the patient's situation. After several months, the patient's DEB-Pr was considered in remission. Dupilumab may be a better choice than immunosuppressants for the treatment of pruritus in patients with DEB-Pr.
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http://dx.doi.org/10.1097/ASW.0000000000000096 | DOI Listing |
J Dermatol
December 2024
Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Phasing, the process of determining which alleles at different loci on homologous chromosomes belong together on the same chromosome, is crucial in the diagnosis and management of autosomal recessive diseases. Advances in long-read sequencing technologies have significantly enhanced our ability to accurately determine haplotypes. This review discusses the application of low-coverage long-read sequencing, nanopore Cas9-guided long-read sequencing, and adaptive sampling in phasing, highlighting their utility in complex clinical scenarios.
View Article and Find Full Text PDFBMC Oral Health
December 2024
Department of Cranio-Maxillofacial Surgery, University Hospital Münster, Münster, Germany.
Background: Inherited epidermolysis bullosa (EB) is a genetic disorder characterized by skin fragility and unique oral features. This prospective study aimed to analyze the correlation between oral health-related quality of life (OHRQoL) and the objectively measured oral health indices of people suffering from EB and within their subtypes.
Methods: The German version of the Oral Health Impact Profile (OHIP-14G) was employed for the assessment of OHRQoL.
Indian J Dermatol
October 2024
Department of Dermatology, AFMC, Pune, Maharashtra, India E-mail:
Ann Med Surg (Lond)
December 2024
Nepal Medical College and Teaching Hospital, Kathmandu, Nepal.
Introduction: Bart syndrome is a rare genetic disorder characterized by epidermolysis bullosa (EB), aplasia cutis congenita, that is congenital local absence of skin and nail abnormalities.
Case Presentation: The authors herein, present a case of a 14-year-old boy with Bart syndrome. The syndrome was diagnosed clinically.
Eur J Hum Genet
December 2024
Laboratory of Genetic Skin Diseases, Institut Imagine, Université Paris Cité, Inserm, UMR 1163, F-75015, Paris, France.
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and most often severe genodermatosis characterized by recurrent blistering and erosions of the skin and mucous membranes after minor trauma, leading to major local and systemic complications. RDEB is caused by loss-of-function mutations in COL7A1 encoding type VII collagen (C7), the main component of anchoring fibrils which form attachment structures stabilizing the cutaneous basement membrane zone. Most of the previously reported COL7A1 mutations are located in the coding or intronic regions.
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