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

Background Netherton syndrome is a rare autosomal recessive disorder consisting of ichthyosis form 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 presentation 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 weight gain with presentation of extensive dermatologic involvement, severe dehydration and respiratory distress. Results Examination of hair under light microscopy revealed trichorrhexis invaginata, highly suggestive for Netherton syndrome. Conclusion 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.