Netherton syndrome: report of identical twins presenting with severe atopic dermatitis

Abstract

We report the cases of 4-year-old identical twin sisters who presented with severe atopic dermatitis with intractable skin manifestations and multiple food allergies. Netherton syndrome (NS) (OMIM 256500) was suspected due to very high serum IgE levels, growth retardation, severe food allergies and typical hair finding (trichorrhexis invaginata). A definite diagnosis was made by genetic analysis. Our cases are unique in being the first identical twins with NS diagnosed by a novel mutation in the SPINK5 gene. NS should be considered in differential diagnosis in children who have generalized erythema with intractable eczematous lesions and elevated levels of IgE.

Netherton Syndrome: A Case Report and Review of Literature

“…During the neonatal period, hypernatremic dehydration and failure to thrive are common complications. NS is inconsistently associated with delayed growth, mental retardation, aminoaciduria, hypoalbuminemia, immune abnormalities, and enteropathy [ 6 ]. Because of the defective skin barrier, recurrent bacterial skin infections are common.…”

Expression profile of cornified envelope structural proteins and keratinocyte differentiation-regulating proteins during skin barrier repair

“…3 The impaired skin barrier function of these diseases is thought to contribute to the co-occurrence of atopic dermatitis (AD) in some of them, such as ichthyosis vulgaris and Netherton syndrome. 4,5 Recent genetic studies on common inflammatory diseases including eczema, psoriasis, asthma and Crohn disease have underscored the importance of epithelial function in many organs such as skin, lung and gut. The finding that null alleles of the epidermis-expressed gene encoding filaggrin (FLG) are a major risk factor for AD has caused a paradigm shift for multifactorial inflammatory diseases.…”

“…There are many skin diseases with a Mendelian pattern of inheritance that are caused by mutations in genes involved in cornification, such as ichthyosis vulgaris (MIM 146700), X‐linked recessive ichthyosis (MIM 308100), lamellar ichthyosis ( TGM1 , MIM 242300) 1,2 and Netherton syndrome ( SPINK5 , MIM 256500) 3 . The impaired skin barrier function of these diseases is thought to contribute to the co‐occurrence of atopic dermatitis (AD) in some of them, such as ichthyosis vulgaris and Netherton syndrome 4,5 . Recent genetic studies on common inflammatory diseases including eczema, psoriasis, asthma and Crohn disease have underscored the importance of epithelial function in many organs such as skin, lung and gut.…”

The use of the twin model to investigate the genetics and epigenetics of skin diseases with genomic, transcriptomic and methylation data

“…Many skin diseases including very rare ones have been reported to be more correlated within MZ twins compared with DZ twins, and these include sarcoidosis, lupus, lichen sclerosus and atrophicus, albinism, vitiligo, Netherton syndrome amongst many. [39][40][41][42] Polymorphic light eruption has also been shown to be under significant genetic influence with heritability of 84%. 43 The UK Twin registry in collaboration with other groups identified new genes for male pattern baldness and female hair thinning.…”