Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism.

Chatziioannidis Ilias,Nikolaidis Nikolaos,Lithoxopoulou Maria,Mamuris Zissis,Patsatsi Aikaterini,Galli-Tsinopoulou Asimina,Mitsiakos George,Sarri Constantina,Karagianni Paraskevi,Babatseva Evgenia,Tsakalidis Christos

doi:10.1155/2015/818961

Chatziioannidis Ilias, Nikolaidis Nikolaos + Show 9 more

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https://doi.org/10.1155/2015/818961

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Abstract

Netherton syndrome, a rare autosomal recessive genetic disorder, is classified as an ichthyosiform syndrome. In this report we present the case of a neonate with erythroderma shortly after birth, accompanied by severe hypernatremia, recurrent infections, transient hyperaldosteronism, and signs of growth hormone (GH) deficiency. DNA molecular analysis in the SPINK5 gene revealed heterozygosity in our index patient for 238insG and 2468delA frameshift mutations in exons 4 and 26, respectively, in the maternal allele and 1431-12G>A splice-site mutation in intron 15 in the paternal allele as well as the missense variation E420K in homozygous state. Combination of the identified mutations along with transient hyperaldosteronism and possible GH deficiency have not been described before. Accordingly, the importance of early multidisciplinary approach is highlighted, in order to reach accurate diagnosis, initiate prompt treatment, and ensure survival with fewer disease complications.

Highlights

Netherton syndrome (NS) is a rare autosomal recessive genetic disorder, affecting mainly males
We present a case of NS in a neonate with unique genetic defects and concurrent comorbidities
In our patient low levels of IGFI, a mediator of growth hormone (GH), in combination with extreme growth retardation at the age of 10 months were indicative of possible GH deficiency or presence of GH bioinactive forms

Summary

Introduction

Netherton syndrome (NS) is a rare autosomal recessive genetic disorder, affecting mainly males. Clinical manifestations of NS are ichthyosiform dermatosis with variable erythroderma, hair shaft abnormalities (trichorrhexis invaginata), and atopic features. Generalized exfoliative erythroderma (with erythema and scaling) is usually the first clinical sign, noted in our case from birth [1, 2]. Hair shaft disorder is difficult to diagnose in affected neonates. NS diagnosis, often challenging, is based mainly on clinical criteria, skin biopsy with evaluation of LEKTI expression, identification of “bamboo hair,” and DNA molecular analysis [3]. We present a case of NS in a neonate with unique genetic defects and concurrent comorbidities

Case Report

Discussion

Conclusions