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Case report: Successful treatment with biologics in a pediatric patient with a severe inflammatory skin disease and novel mutation.
Front Med (Lausanne)
February 2024
Department of Dermatology, Pediatric Dermatology and Oncology, Medical University of Lodz, Lodz, Poland.
Article Synopsis
- Mutations in the caspase activation and recruitment domain are linked to several skin conditions, including psoriasis and atopic dermatitis.
- A pediatric patient was identified with a new mutation (c.394A > T/-) related to a condition known as CAPE.
- The patient responded well to treatment with biological therapies.
A novel variant with a severe phenotype in a patient with CARD14-associated papulosquamous eruption successfully treated with ixekizumab.
Clin Exp Dermatol
May 2024
Dermatology, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, People's Republic of China.
Biologics for inherited disorders of keratinisation: A systematic review.
Australas J Dermatol
March 2024
School of Clinical Medicine, UNSW Medicine & Health, Sydney, New South Wales, Australia.
Article Synopsis
- Recent studies suggest that biologics might help treat inherited keratinisation disorders, with this study reviewing literature on their effectiveness.
- A total of 104 studies involving 166 patients were analyzed, focusing on various disorders with Netherton syndrome being the most common.
- While 5% of patients achieved complete remission with biologics, many experienced only partial benefits or no significant response, highlighting the need for more rigorous research to better evaluate these treatments.
Missense Variant Underlying -Associated Papulosquamous Eruption with Beneficial Response to Secukinumab.
JID Innov
March 2023
Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing, China.
-associated papulosquamous eruption is an autosomal dominant genodermatosis characterized by early-onset, generalized erythematous patches and plaques with prominent scales, mostly with facial involvement. Heterozygous gain-of-function variants in the gene have been reported to be causative for this entity. The pathogenesis mainly involves the IL-23‒IL-17 inflammatory circuit, yet the efficacy of anti‒IL-17 treatment remained less examined.
View Article and Find Full Text PDFClinical response of CARD14-associated papulosquamous eruption to an anti-interleukin-17A antibody.
Br J Dermatol
September 2022
Department of Dermatology, Venereology and Allergology.
Here we present another family with CARD14-associated papulosquamous eruption, which is characterized by mutations in CARD14 and skin lesions resembling psoriasis and pityriasis rubra pilaris. We show beneficial therapeutic response to anti-IL17A treatment in one patient and performed immunomonitoring of our patient, exhibiting enhanced pSTAT3 levels in T cells before treatment, which normalized after treatment. Together, our data support the pathogenic role of IL-17A in this disease, which might have consequences for future treatment decisions in this rare condition.
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