Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome

Abstract

Netherton syndrome is a rare autosomal recessive disease characterized by erythroderma, ichthyosis linearis circumflexa, atopy, failure to thrive and a specific hair shaft abnormality called trichorrhexis invaginata or bamboo hair, considered pathognomonic. We report the case of a 4-year-old boy with erythroderma since birth, growth deficit and chronic diarrhea. Trichoscopy was used to visualize typical bamboo and "golf tee" hair and of key importance to diagnose Netherton syndrome. We suggest the use of this procedure in all children diagnosed with erythroderma.

Netherton Syndrome: A Case Report and Review of Literature

“…The hair shaft abnormality (Trichorrhexis invaginata) due to invagination of the distal portion of the hair shaft into the proximal portion is pathognomonic. The hairs are typically lusterless, dry, sparse, brittle, and are best observed under trichoscopy or trichogram [ 4 ]. In our patient, we did not find TI.…”

A 6‐month, randomized, double‐blind, placebo‐controlled study evaluating the ability of a marine complex supplement to promote hair growth in men with thinning hair

“…Trichoscopy is a useful, noninvasive method for diagnosing various skin disorders including hair loss . It is also a useful tool for documenting the response to treatment .…”

An 8-Year-Old Child with Delayed Diagnosis of Netherton Syndrome

“…The hair is typically lusterless, dry, sparse, short, beaded, brittle, and easily broken [ 8 – 10 ]. Trichorrhexis invaginata of hair and eyebrows, due to invagination of the distal portion of the hair shaft into the proximal portion, is pathognomonic for Netherton syndrome [ 10 , 11 ]. When hair breaks at the point of invagination, the appearance simulates a “golf tee” or “matchstick” [ 7 – 9 ].…”

“…Therefore, hair examination by trichoscopy or trichogram should be carried out early so that the diagnosis would not have been missed or delayed. It is not unusual for hundreds of hairs to be examined before a hair with trichorrhexis invaginata can be found [ 11 ]. The hair shaft abnormality is best visualized in eyebrow hair [ 8 , 9 , 11 ].…”

“…It is not unusual for hundreds of hairs to be examined before a hair with trichorrhexis invaginata can be found [ 11 ]. The hair shaft abnormality is best visualized in eyebrow hair [ 8 , 9 , 11 ]. The diagnosis can be confirmed, if necessary, by identification of a germline SPINK5 mutation by DNA sequencing [ 3 ].…”