Last Updated: 2019-08-26
Comèl-Netherton syndrome, bamboo hair, bamboo hairs
Trichorrhexis invaginata is characterized by typical "invaginations" of the hair shaft. The reason for this is a keratinization defect.
Trichorrhexis invaginata is a symptom of Comèl-Netherton syndrome (Ichthyosis linearis circumflexa Comèl, atopic diathesis, Trichorrhexis invaginata).
There is an autosomal recessive inheritance in the SPINK5 gene.
Invagination" is caused by increased growth of the outer hair shaft / outer root sheath (cornification disorder).
Dry, dull, brittle hair, usually never longer than 4 cm.
Trichogram: typical invaginations.
Increased urinary arginine succinic acid.
Sometimes improvement in the course of life.
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