NS in a Neonate with Possible GH Deficiency and Transient Hy
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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. Additionally, hair shaft disorder is particularly 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. We present a case of NS in a neonate with unique genetic defects and concurrent comorbidities.

Case Report
Preterm male, appropriate for 35 weeks' gestation, of a primigravida 34-year-old mother was admitted to our hospital at 4 hours of age for respiratory distress and erythroderma. He was born vaginally, after an uneventful pregnancy, from phenotypically healthy, nonconsanguineous parents with no perinatal complications.

Examination at admission revealed a generalized exfoliative erythroderma over the face, trunk, and limbs and excessive scalp scaling. No blisters or pustules were observed. Eyelids and glans penis were swollen while mucous membranes were not involved. Nikolsky and Darier's signs were negative.....

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502330/
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