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Erschienen in: Wiener Medizinische Wochenschrift 11-12/2023

25.01.2023 | case report

Netherton syndrome in a Bulgarian patient

Presentation of a case and an update of therapeutic options

verfasst von: Dr. Simona Atanasova Kordeva, Prof. Dr. Ilia Batashki, Prof. Dr. Georgi Tchernev

Erschienen in: Wiener Medizinische Wochenschrift | Ausgabe 11-12/2023

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Summary

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.
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Metadaten
Titel
Netherton syndrome in a Bulgarian patient
Presentation of a case and an update of therapeutic options
verfasst von
Dr. Simona Atanasova Kordeva
Prof. Dr. Ilia Batashki
Prof. Dr. Georgi Tchernev
Publikationsdatum
25.01.2023
Verlag
Springer Vienna
Erschienen in
Wiener Medizinische Wochenschrift / Ausgabe 11-12/2023
Print ISSN: 0043-5341
Elektronische ISSN: 1563-258X
DOI
https://doi.org/10.1007/s10354-022-00999-y

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