Hair Shaft Videodermoscopy in Netherton Syndrome

Netherton syndrome is an autosomal recessive disorder, characterized by ichthyosis, atopic manifestations, and hair shaft abnormalities (trichorrhexis invaginata). The diagnosis of Netherton syndrome may be established on the basis of just one abnormal hair, but it is often difficult to find a hair with pathognomonic features on light microscopic examination. Every attempt requires pulling new hairs. We present the case of an 11-year-old female patient with Netherton syndrome in whom hair and scalp videodermoscopy (trichoscopy) was used to visualize typical bamboo hairs and hairs with golf tee type endings in the scalp hairs and eyebrows. Trichoscopy is a method, which allows noninvasive viewing of hair shafts in many-fold magnification without the need of pulling hair for diagnostic purposes. This case shows that trichoscopy may be employed to significantly improve the chance of establishing the diagnosis of Netherton syndrome in patients.