Netherton syndrome is a rare autosomal recessive condition with variable expression. It comprises an ichthyosiform dermatitis and erythroderma of variable intensity associated with hair abnormalities and features of atopy. The pathognomic (required for diagnosis) feature is trichorrhexis invaginata identified by microscopic examination of hair shaft. Ichthyosis linearis circumflexa is ano...

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 ...

We report an 8-year-old boy with Netherton syndrome who was misdiagnosed and treated as severe atopic dermatitis. The diagnosis of Netherton syndrome was not made until the child was 8 years of age. We discuss the pitfalls in the diagnosis and alert physicians to the proper and early diagnosis of this syndrome. The child was treated with a low dose (0.25 mg/kg) of oral acitretin and a topical m...

Sir, Netherton syndrome (NS) is a rare autosomal recessive disorder of keratinization. It is caused by a mutation of the SPINK5 gene that encodes a multidomain serine protease inhibitor (LEKTI) predominantly expressed in epithelial and lymphoid tissues (1). Clinical presentation is characterized by the triad of (i) ichthyosis, i.e. ichthyosis linearis circumflexa (ILC) and/or congenital ichthyo...

Netherton Syndrome (NS) is a very rare genetic skin disease resulting from defects in the SPINK5 gene (encoding the protease inhibitor lympho-epithelial Kazal type inhibitor 1, LEKTI1). In this report, we provide a detailed clinical description of a Polish patient with two SPINK5 mutations, the novel c.1816_1820+21delinsCT and possibly recurrent c.1431-12G>A. A detailed pathogenesis of Netherto...

Based on the changes in the field of heart transplantation and the treatment and prognosis of patients with heart failure, these updated guidelines were composed by a committee under the supervision of both the Netherlands Society of Cardiology and the Netherlands Association for Cardiothoracic surgery (NVVC and NVT).THE INDICATION FOR HEART TRANSPLANTATION IS DEFINED AS: 'End-stage heart disea...

BACKGROUND Impaired skin integrity in patients with Netherton syndrome (NS) results in significant systemic absorption of topically applied medications. Some have advocated the administration of pimecrolimus, 1%, topical cream for the treatment of patients with NS. Insufficient data exist with regard to its safety, systemic absorption, and efficacy. OBSERVATIONS An exploratory study was condu...

Netherton Syndrome (AKABamboo Hair Syndrome) is a non treatable, Autosomal Recessive Disorder of infancy and childhood, so has no sex predilection. Family history may reveal consanguinity. There is triad A] Ichthyosiform linearis circumflexa B] Hair Shaft Defect like trichorrhexis invaginata & C] Atopic Diathesis. Caused by mutation in Serine Protease Inhibitor Kazal type 5 gene (SPINK5), which...

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Cardiac disease is not easy to recognise in general practice. An echocardiogram is an excellent way to provide information about left ventricular mass and diastolic (dys)function and the presence of valvular heart disease. To improve diagnostic care of cardiac patients, an open access echocardiography service was established in the referral area of our hospital, where general practitioners were...