Introduction to Netherton Syndrome

Dysregulation of proteolytic enzymes has huge impact on epidermal homeostasis, which can result in severe pathological conditions such as fibrosis or Netherton syndrome.

Netherton syndrome (NS) is an autosomal recessive disorder due to mutations in the SPINK5 gene.

Netherton syndrome (NS) is a rare life-threatening syndrome caused by SPINK5 mutations leading to a skin barrier defect, bacterial skin infections and allergic sensitization in early childhood.

Netherton syndrome is a genetic condition affecting about five people per million.

4 ng/ml), Netherton syndrome (n = 7; 10.

, Menkes disease, Björnstad syndrome, Netherton syndrome, and Bazex-Dupré-Christol syndrome).

Considering that the treatment of patients with genetic cutaneous disorders, such as other subtypes of epidermolysis bullosa, pachyonychia congenita, ichthyosis and Netherton syndrome, remains challenging, the success of HPAEs in RDEB treatment indicates that the development of viable polymeric gene delivery vectors could potentially expedite the translation of gene therapy for these diseases from bench to bedside.

Netherton syndrome (NS) is a rare genodermatosis with an autosomal recessive pattern of inheritance caused by pathogenic variants in the SPINK5 gene.

Among them are skin diseases, such as prurigo nodularis, nummular eczema, allergic contact dermatitis, chronic hand eczema, spontaneous chronic urticaria, bullous pemphigoid, alopecia areata, and Netherton syndrome, among other several cutaneous diseases.

Netherton syndrome (NS) is a multi-domain genodermatoses with hair, skin, and immunological abnormalities caused by a monogenic serine protease inhibitor of Kazal type 5 mutation.

Due to the lack of genetic routine testing, children with recalcitrant erythroderma and otitis, along with hair shaft abnormalities, need to be evaluated for Netherton syndrome.

We present a patient with Netherton syndrome and severe skin manifestations treated with infliximab.

Epidermal application of the ABP-inhibitor on Spink5-/-Klk5-/- mice, a Netherton syndrome model, reversed disease hallmarks, providing preclinical proof-of-concept for using ABPs as theranostics.

BACKGROUND Netherton syndrome (NS) is a rare recessive skin disorder caused by loss-of-function mutations in SPINK5 encoding the protease inhibitor LEKTI.

In recent years, gene therapy has been attempted for a variety of skin diseases, such as genodermatoses (including epidermolysis bullosa and Netherton syndrome), cutaneous lymphoma, and malignant melanoma.

Netherton syndrome (NS) is an autosomal recessive primary immunodeficiency which is characterized by substantial skin barrier defects and is often misdiagnosed as severe atopic dermatitis or Hyper IgE syndrome.

Netherton syndrome (NS) is an autosomal recessive ichthyosis with a broad range of extracutaneous manifestations, including faltering growth, rendering it a complex multisystem disease.

This is best exemplified in Netherton Syndrome (NS), a severe genetic skin condition caused by loss-of-function mutations in SPINK5 encoding LEKTI, a serine protease inhibitor which regulates kallikrein-related peptidase (KLK) 5, 7 and 14 activities.

Trichorrhexis invaginata and ichthyosiform erythroderma are pathognomic for Netherton Syndrome.

Netherton syndrome (NS) is a genodermatosis caused by loss‐of‐function mutations in SPINK5, resulting in aberrant LEKTI expression.

, Netherton syndrome and atopic dermatitis (AD).

We present the genetic analysis results of probands with X-linked ichthyosis, autosomal recessive congenital ichthyosis, keratinopathic ichthyosis, and a patient with Netherton syndrome.

INTRODUCTION Netherton syndrome (NS) is a rare disease caused by SPINK5 mutations associated with ichthyosis (erythroderma and desquamation), alopecia and atopic manifestations.

The connection between Netherton syndrome and overactivation of epidermal/dermal proteases, particularly Kallikrein 5 (KLK5) has been well established and it is expected that a KLK5 inhibitor would improve the dermal barrier and also reduce the pain and itch that afflict Netherton syndrome patients.

The connection between Netherton syndrome and overactivation of epidermal/dermal proteases particularly KLK5 has been well established.

Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C.

Hair changes may be a significant finding or even the initial presentation of a syndrome giving a clue to the diagnosis, such as Netherton syndrome and trichothiodystrophy.

BACKGROUND Netherton syndrome (NS) is a rare but severe type of ichthyosis characterized by atopy, allergies, and potentially lethal skin overdesquamation associated with highly elevated proteolytic activities in LEKTI-deficient epidermis.

The role of epidermal proteolysis in overdesquamation was revealed in Netherton syndrome, a rare ichthyosis due to genetic deficiency of the LEKTI inhibitor of serine proteases.

Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.

The woman, who had Netherton syndrome, was admitted due to necrotic leg wounds, which were developed on severe skin atrophy.

Patients with Netherton syndrome (LEKTI deficiency) have increased activity of both TG1 and serin proteases.

Netherton syndrome (NS) is a rare and debilitating severe autosomal recessive genetic skin disease with high mortality rates particularly in neonates.

目的 探讨Netherton综合征患儿的临床特征和基因变异。 方法 收集2016年7月至2018年7月在中山大学附属第六医院儿科确诊的2例Netherton综合征患儿的临床表现、实验室检查及基因检测等临床资料，并以"Netherton综合征"、"SPINK5"、"鱼鳞病"、"Netherton syndrome"、"erythroderma"、"desquamation"为关键词，对中国知网、万方数据知识服务平台及PubMed 2010年1月至2018年12月收录的论文进行检索。总结Netherton综合征患儿的临床表现及基因特点。 结果 2例均新生儿期起病，出现全身弥散性红斑及脱屑、毛发干枯易折、生长迟缓，基因检测发现2例受检者SPINK5基因存在杂合突变，1个新发突变c.

The aim of the following case report is to provide a description of acute lymphoblastic leukemia (ALL) in a patient with Netherton syndrome (NS).

The article analyzes the most significant genodermatoses associated with a high risk of allergic reactions that may occur in the practice of a dermatologist and pediatrician, such as ichthyosis and ichthyosiform dermatoses, Netherton syndrome and other ichthyosiform erythroderma, peeling skin syndrome, SAM syndrome, as well as congenital bullous epidermolysis.

Other forms of PSS are associated with systemic manifestations, such as SAM syndrome (MIM615508) or Netherton syndrome (MIM256500).