Neonatal hypernatraemia in two siblings with Netherton's syndrome

Abstract

We report two siblings with Netherton's syndrome who developed hypernatraemia during the neonatal period. Although this is likely to have been due to trans-epidermal water loss in erythrodermic infants rather than to Netherton's syndrome specifically, this complication should be remembered in erythrodermic infants as a preventable cause of neonatal morbidity.

Altered Lamellar Body Secretion and Stratum Corneum Membrane Structure in Netherton Syndrome

“…Moreover, erythroderma with failure to thrive may be the presenting feature of a number of disorders with diverse causes, including nutritional or metabolic disorders such as cystic fibrosis or acrodermatitis enteropathica (deficiency dermatitis) 44,45 and immunodeficiency syndromes. 15,46,47 Therefore, features that could distinguish NS from other erythrodermic conditions, especially when there is a delayed appearance of bamboo hairs, could be crucial for the timely treatment of such infants. 5,6 In this study, we attempted to identify diagnostically useful ultrastructural features of NS.…”

“…5,6 Although some authors 5,14 suggest that systemic complications of NS could be due to a severe, underlying immunodeficiency, recent studies 6 demonstrate that, apart from markers of atopy such as increased IgE, significant immune defects are not present. Others 5,[15][16][17] have proposed that increased rates of transcutaneous water loss, resulting in hypernatremic dehydration and hypothermia in the neonatal period, are a more likely cause of morbidity and mortality in NS. Such a pathogenic scenario implies that a severe disturbance in the cutaneous permeability barrier is an important feature of this subgroup of NS.…”

Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article

“…This syndrome presents at or soon after birth with generalized erythroderma, scaling, and/or continuous peeling of the skin resembling nonbulloous congenital ichthyosiform erythroderma or peeling skin syndrome. In the neonatal period, 20% of the babies suffer from hypernatremic dehydration, electrolyte imbalances, perturbed thermoregulation, failure to thrive and recurrent infections which may result in neonatal demise [3][4][5]. The skin lesions are often pruritic, resemble atopic eczema, and show an unstable, undulating course.…”

Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome

“…In about 20% of patients the syndrome may present during the neonatal period with life-threatening complications such as electrolyte imbalance, hypernatremic dehydration, inability to regulate body temperature, failure to thrive and sepsis [3,4,5,7,8]. These complications are due to the loss of the epidermal barrier function [9].…”