Netherton syndrome (NS) is a rare autosomal recessive disorder, characterized by a classical triad of clinical features, including congenital ichthyosiform erythroderma, trichorrhexis invaginata, and atopic diathesis coupled with frequent bacterial infections (1). The genetic basis for the disease has been recently identified with mutations in gene SPINK5, which is involved in the regulation of...

Ichthyosis linearis circumflexa (ILC) presents as serpiginous and migratory erythematous patches with double-edged scales. ILC is rarely an isolated skin manifestation, but most commonly a part of Netherton syndrome (NS). NS is caused by SPINK5 mutations, which lead to absent or sometimes reduced expression of the serine protease inhibitor LEKTI. NS is characterised by congenital ichthyosiform ...

Background: Netherton syndrome is a rare autosomal recessive disorder consisting of ichthyosiform dermatosis, hair shaft abnormalities and an atopic diathesis that presents as widespread erythematous skin. The aim of these reports is emphasis on the importance of the examination of hair as a diagnose route. Case presentation: Case 1: A 6 months old boy with respiratory distress and severe eryth...

OBJECTIVES To gather and compare clinical and histologic information from individuals affected by hypohidrotic ectodermal dysplasia (HED) and unaffected control subjects and to assess the value of these data in the diagnosis of HED. DESIGN Volunteer subjects attending the 20th Annual Family Conference of the National Foundation for Ectodermal Dysplasia answered a questionnaire and performed a...

In 1958, Netherton described the bamboo-like deformity in the fragile hairs in a girl with erythematous scaly dermatitis.[2] In 1985, Greene and Muller emphasized the triad of Netherton syndrome: ichthyosis, atopy, and trichorrhexis invaginata.[3] In 2000, Chavanas et al. identified eleven different mutations in SPINK5 in 13 families with Netherton syndrome.[4] Their finding disclosed a critica...

Skin of color comprises a diverse and expanding population of individuals. In particular, women of color represent an increasing subset of patients who frequently seek dermatologic care. Acne, melasma, and alopecia are among the most common skin disorders seen in this patient population. Understanding the differences in the basic science of skin and hair is imperative in addressing their unique...

Netherton’s syndrome Cyclosporine Dr. A.A. Ramelet, 2, place Benjamin-Constant, CH-1003 Lausanne (Switzerland), Tel. 021 312 60 60, Fax 021 320 40 90 In 1958, Netherton [IJ reported a unique case of trichorrhexis nodosa ‘bamboo hairs’. Netherton’s syndrome (NS) consists of the triad of ichthyosiform dermatosis, multiple defects of the hair shaft (trichorrhexis invaginata) and an atopic diathesi...