Netherton syndrome in a Bulgarian patient : Presentation of a case and an update of therapeutic options.

Autor: Kordeva SA; Onkoderma-Clinic for Dermatology, Venereology and Dermatologic Surgery, General Skobelev 26, 1606, Sofia, Bulgaria. simonakordeva97@gmail.com., Batashki I; Medical Institute of Ministry of Interior, General Skobelev 79, 1606, Sofia, Bulgaria., Tchernev G; Onkoderma-Clinic for Dermatology, Venereology and Dermatologic Surgery, General Skobelev 26, 1606, Sofia, Bulgaria.; Department of Dermatology and Venereology, Medical Institute of Ministry of Interior, General Skobelev 79, 1606, Sofia, Bulgaria.
Jazyk: angličtina
Zdroj: Wiener medizinische Wochenschrift (1946) [Wien Med Wochenschr] 2023 Sep; Vol. 173 (11-12), pp. 276-286. Date of Electronic Publication: 2023 Jan 25.
DOI: 10.1007/s10354-022-00999-y
Abstrakt: Comel-Netherton syndrome, or Netherton syndrome (NS), is a rare chronic genetic skin condition affecting the daily life of patients, which often results in poorly developed social skills and anxiety. Genetic predisposition plays a key role alongside the clinical findings, and clinicians must be aware of it as it can mimic other well-known skin conditions. Diagnosis is challenging both clinically and histologically. Clinically, it can mimic a severe form of atopic dermatitis, psoriasiform dermatitis overlapping with atopic dermatitis, or erythrokeratodermia variabilis. The difficulties in making histological diagnosis are similar, and it is often necessary to take several biopsies in order to clarify the diagnosis. Although retinoids are used for both psoriasis, erythrokeratodermia variabilis, and other congenital forms of keratodermia, the recommended treatment doses are different. This often results in poor treatment outcome. We present a 16-year-old patient previously diagnosed as erythrokeratodermia variabilis and treated with little to no improvement. Systemic therapy with acitretin 10 mg daily, local pimecrolimus 1%, emollients, and bilastine 20 mg once daily was initiated. Due to the limited application of retinoids and the difficulties in achieving permanent remission, modern medicine is faced with the challenge of seeking innovative therapeutic solutions. New hopes are placed on targeted or anti-cytokine therapy, based on inhibiting the inflammatory component of the disease. This article is mainly focused on innovative therapeutic options, including modern medications such as dupilumab, infliximab, secukinumab, anakinra, omalizumab, and others.
(© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Austria, ein Teil von Springer Nature.)
Databáze: MEDLINE
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