Bamboo Hair Syndrome or Netherton Syndrome: A Case Report

Netherton Syndrome, also known as Bamboo Hair Syndrome, was described as a non-treatable autosomal recessive disorder affecting infants and children, with no sex predilection. The syndrome was characterized by a triad of symptoms: ichthyosiform linearis circumflexa, hair shaft defects like trichorrhexis invaginata, and atopic diathesis. It was caused by mutations in the Serine Protease Inhibitor Kazal type 5 gene (SPINK5), which was primarily expressed in the lamellar granules of epithelial and lymphoid tissues. Family history might reveal consanguinity.