Two Case Reports of Netherton Syndrome: Hair Shaft Examination Is Known As a Diagnostic Test

Netherton syndrome is a rare autosomal recessive disorder consisting of ichthyosiform dermatosis, hair shaft abnormalities and an atopic diathesis that presents as widespread erythematous skin. The aim of these reports is emphasis on the importance of the examination of hair as a diagnose route.
Case 1: A 6 months old boy with respiratory distress and severe erythematous itchy scaling lesions. He had been under treatment of topical steroid without improvement. Case 2: A 28 days old boy admitted for failure to thrive with presentation of extensive dermatologic involvement, severe dehydration and respiratory distress.
Findings: Examination of hair under light microscopy revealed trichorrhexis invaginata, highly suggestive for Netherton syndrome.
In countries where access to genetic diagnostic tests is difficult, hair examination is the best and inexpensive definitive diagnostic method compared to the expensive genetic tests for diagnose of Netherton syndrome.