Trichorrhexis invaginata is seen only in patients with the autosomal recessive Netherton syndrome. This hair shaft abnormality has been termed “bamboo hair” because of its resemblance to the growth rings of a bamboo plant. Another descriptive term is “ball and socket hair,” because it appears that the distal portion of the hair invaginates into the proximal hair cortex. The hair is brittle and breaks easily, leading to alopecia. The eyebrow hair is the best place to look for trichorrhexis invaginata. Netherton syndrome is a multisystem disease caused by a mutation in the SPINK5 gene that is associated with erythroderma, alopecia, and elevated levels of immunoglobulin E. Ichthyosis linearis circumflexa is the name for the migratory, irregular, serpiginous patches and plaques with a double-edged scale that are seen only in Netherton syndrome. The SPINK5 gene encodes the serine protease inhibitor, Kazal type 5 protein, which is important in epithelial desquamation.
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