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A case of peeling skin syndrome type 1 with novel CDSN gene variation successfully treated with upadacitinib.
J Dermatol
October 2024
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China.
Peeling skin syndrome type 1 (PSS1) is an autosomal recessive genodermatosis caused by the CDSN gene loss-of-function mutation and characterized by widespread superficial skin peeling and erythroderma with unbearable pruritus. Because of its ultra-rarity and unclear mechanism, this rare disease has no established treatment regimen. Herein, we reported a Chinese woman who presented with congenital generalized pruritic erythroderma and exfoliation, notable for significantly elevated IgE levels.
View Article and Find Full Text PDFA Case Report of JAK Inhibitors Therapy for Adult-Onset Still's Disease with Persistent Pruritic Lesions.
Drugs R D
September 2024
Dermatology Hospital of Jiangxi Province, Jiangxi Provincial Clinical Research Center for Skin Diseases, Candidate Branch of National Clinical Research Center for Skin Diseases, Nanchang, 330000, China.
Background And Objective: Adult-onset Still's disease (AOSD) is a recognized autoinflammatory disorder of unknown etiology. The standard initial management for AOSD includes conventional corticosteroids and disease-modifying antirheumatic drugs. In cases that are resistant to these treatments, additional therapeutic options such as immunosuppressants, biologics, and other alternative treatments may be considered.
View Article and Find Full Text PDFUnusual case of prurigo pigmentosa on the upper extremities in an adolescent female: A rare presentation.
Pediatr Dermatol
September 2024
Department of Dermatology & Venereology, Ankara Etlik City Hospital, Ankara, Turkey.
Article Synopsis
- * A skin biopsy showed mild spongiosis and inflammation, confirming the diagnosis of PP.
- * Treatment involved stopping the ketogenic diet and using oral doxycycline, which cleared the lesions within a month, although some post-inflammatory hyperpigmentation remained.
Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in gene.
World Allergy Organ J
March 2024
National Centre for Hereditary Angioedema, Clinic of Children and Adolescents, Clinics of Pulmonology and Phthisiology, Jessenius Faculty of Medicine, Comenius University in Bratislava, University Hospital in Martin, Slovakia.
Background: Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterised by acute episodes of non-pruritic skin and submucosal swelling caused by increase in vascular permeability.
Objective: Here we present the first complex analysis of the National HAE Slovakian cohort with the detection of 12 previously un-published genetic variants in gene.
Methods: In patients diagnosed with hereditary angioedema caused by deficiency or dysfunction of C1 inhibitor (C1-INH-HAE) based on clinical manifestation and complement measurements, gene was tested by DNA sequencing (Sanger sequencing/massive parallel sequencing) and/or multiplex ligation-dependent probe amplification for detection of large rearrangements.
Figurate erythema in 11 Eastern European sphynx cats.
Vet Dermatol
June 2024
Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, North Carolina, USA.
Background: In humans, figurate erythema (FE) represents a heterogenous group of dermatoses with circular or serpiginous erythematous skin lesions; FE has not been reported in cats.
Objectives: To report clinical and histological characteristics and outcomes of FE in sphynx cats from Baltic sea-bordering countries.
Animals: Eleven client-owned sphynx cats with FE.
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