Abstract
Netherton syndrome (NS) is a genetic, multisystemic disease classically distinguished by a triad of clinical manifestations: congenital ichthyosiform erythroderma, hair shaft abnormalities, and immune dysregulation. Due to the complex pathogenesis of the disease, there are no specific therapies currently accessible for patients with NS. An early diagnosis is crucial to start the correct management of these patients. A multidisciplinary approach, including specialists in immunology, allergology, and dermatology, is necessary to set up the best therapeutic pathway. We conducted a review with the aim to summarize the different therapeutic strategies currently accessible and potentially available in the future for children with NS. However, given the limited data in the literature, the best-tailored management should be decided upon the basis of the specific clinical characteristics of the patients with this rare clinical condition. Further comprehension of the pathophysiology of the disease could lead to more efficacious specific therapeutic options, which could allow a change in the natural history of NS.
Highlights
Netherton syndrome (NS) is a rare, multisystemic, autosomal recessive disease described first by Comel in 1949 and later by Netherton in 1958 [1, 2]
This review aims to give a hint of the complexity of the management of the patients affected by NS and to briefly summarize the different therapeutic strategies accessible at the moment and potentially available in the future (Table 1)
In order to access proper, international, and specific literature on the topic, articles were limited to English language, and they were excluded if they were redundant or not pertinent to the specific topic investigated based on the paper’s title, abstract, or full text (Figure 1)
Summary
Netherton syndrome (NS) is a rare, multisystemic, autosomal recessive disease described first by Comel in 1949 and later by Netherton in 1958 [1, 2]. It is classically distinguished by a triad of clinical manifestations: congenital ichthyosiform erythroderma, hair shaft abnormalities, and immune dysregulation [3]. Skin and hair defects persist throughout life, but the disorder usually ameliorates with age [4]. Deficiencies or abnormalities in LEKTI lead to the premature stratum corneum detachment and defect of skin barrier function, resulting from an excessive serine protease activity
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