Abstract:

A 3-day-old male neonate initially presented with diffuse erythroderma with 100% BSA involvement with overlying skin erosions, scale, and bullae over sites of friction (dorsal hands, and feet). Notably, at birth, the patient had increased vermix in comparison to a twin sister and no presence of collodion. The nails and mucosa were spared. Complete blood count was within normal limits. Electrolyte abnormalities (e.g. hypernatremia and hyperkalemia) were corrected with intravenous fluids. The patient had no relevant family history. A punch biopsy from the left thigh showed psoriasiform changes (parakeratosis, diminished granular layer) and focal separation within the stratum corneum; these changes were compatible with a congenital ichthyosis. While trichoscopy was negative for trichorrhexis invaginata, genetic testing revealed compound heterozygous SPINK5 mutations, confirming the diagnosis of Netherton syndrome (NS). NS is clinically characterized by the classic triad of congenital ichthyosiform erythroderma, trichorrhexis invaginata, and an atopic diathesis. However, the phenotype of NS may be quite variable among patients and even within families. NS should be suspected in all neonates and infants presenting with ichthyosiform erythroderma with histopathological findings of psoriasiform hyperplasia without neutrophils, as ~ 20% will have NS and are at high risk of life-threatening complications, such as hypernatremic dehydration, failure to thrive, severe respiratory insufficiency, and hypothermia.

Financial Disclosure:
No current or relevant financial relationships exist.

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Wael Ibrahim, MBChB