An American dermatologist who first described in 1958 the genetic syndrome, Netherton disease
Earl W. Netherton (1910–1985) is an American dermatologist who made a contribution in the field of medical genetics. He was the first to describe the genetic syndrome that was named after him – Netherton disease (or Netherton syndrome).
In 1958, Netherton described the condition of a girl with a genetic condition characterized by bamboo hair and ichthyosis. The condition, now referred to as Netherton disease or syndrome, is a genetic disorder involving the defective gene, SPINK5 gene. The gene is a member of the gene family cluster on chromosome 5q32, and encodes for Kazal-type 5. Kazal-type 5 is an inhibitor of serine proteases. It is expressed in stratified epithelial tissue. It is involved in skin and hair morphogenesis. The major symptoms of Netherton syndrome are ichthyosis, bamboo hair (trichorrhexis invaginata, i.e. hair is brittle and the strand has thin and thick spots), and atopy. Many of the individuals with this syndrome have food allergies, asthma, eczema, or hay fever. Bamboo hair, which Netherton called trichorrhexis nodosa, is a hair shaft abnormality characterized by the presence of regularly spaced nodules along the hair shaft. Because of the thick and thin portions of the hair strands the hair is brittle and prone to breakage. Later, the condition was aptly called trichorrhexis invaginata to pertain to the characteristic ball-and-socket deformity of the hair shaft.