A clinical and immunological study of Netherton's syndrome

Abstract

Netherton's syndrome is a rare genodermatosis of unknown cause, which is classified as an ichthyosiform syndrome. A clinical and immunological study of seven patients with Netherton's syndrome illustrates the clinical spectrum of this disorder, the frequent association with atopy, and the absence of consistent immunological abnormalities. Failure to thrive in infancy was a feature in six of the seven patients, and was considered to be life-threatening in three. The skin disease evolved into ichthyosis linearis circumflexa in four of the seven, and the remaining three patients suffered from persistent or recurrent ichthyosiform erythroderma.

Transgenic kallikrein 5 mice reproduce major cutaneous and systemic hallmarks of Netherton syndrome

“…These include eczematous like lesions, allergic asthma, allergic rhinitis, urticaria, and angiodema (Sun and Linden, 2006). Only a few immunologi cal studies have been reported in NS patients to date (Judge et al, 1994;Stryk et al, 1999;Renner et al, 2009). In these studies, a constant finding is elevated specific IgE levels to common allergens, although a proallergic Th2 skew has not been consistently found.…”

“…NS involves both cutaneous and immunological abnormalities, including congenital ichthyosiform erythroderma, pro nounced peeling of the skin with detachment of the stratum corneum (SC) from the under lying epidermis, severe atopy with elevated serum IgE, and a characteristic hair shaft defect (Comel, 1949;Netherton, 1958;Judge et al, 1994;Hausser and Anton Lamprecht, 1996). Collec tively, these detriments represent a serious chal lenge to neonate health and promote frequent complications, including hypernatremic dehy dration, failure to thrive and recurrent bacterial infections that can be life threatening.…”

Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- mice

“…Netherton Syndrome (NS) (MIM 256500) is a severe, recessively inherited skin disease in humans with high neonatal lethality. It is characterized by ichthyosiform erythroderma, atopic dermatitis, bamboo hair, skin barrier defects, and elevated IgE levels in survivors (Krafchik and Toole 1983;Judge et al 1994). Mutations have been identified in the SPINK5 (serine proteinase inhibitor Kazal type 5) gene of NS patients (Chavanas et al 2000;Sprecher et al 2001;Walley et al 2001;Bitoun et al 2002;Komatsu et al 2002).…”

Netherton Sendromu ve Mental Retardasyon Birlikteliği

“…Bu bebeklerde sıklıkla hayatın ilk yılında büyüme geriliği, hipernatremi, hipotermi, sık tekrarlayan enfeksiyonlar ve sepsis görülebilir. Bu dönemde mortalite oldukça yüksektir (8,9). Ülkemizde yayımla-nan bir raporda, NS'li iki erkek kardeşten birinde aynı zamanda mental retardasyon görüldüğünden, diğer kardeşin mental olarak normal ama davranış sorunlarına sahip olduğundan bahsedilmiştir (10).…”