Dictionary > Netherton syndrome

Netherton syndrome

Definition
noun
An autosomal recessive genetic disorder characterized mainly by ichthyosis, bamboo hair, and atopy, and is often associated with a defective SPINK5 gene
Supplement
Netherton syndrome is an autosomal recessive genetic disorder. This means that the individual exhibiting the symptoms associated with Netherton syndrome has two copies of the defective gene, i.e. SPINK5 gene. When an individual has only one copy of the defective gene, he or she may not exhibit the symptoms but will become a carrier of the defective gene. The SPINK5 gene is a member of the gene family cluster on chromosome 5q32. It encodes for serine protease inhibitor Kazal-type 5, an inhibitor of serine proteases and is expressed in stratified epithelial tissue. One of the main functions of this protein is in skin and hair morphogenesis.
The symptoms of Netherton syndrome include a severe-type of 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.
The condition is named after the American dermatologist, Earl W. Netherton who first described it in 1958.
Variant(s):

  • Netherton’s syndrome

Synonym(s):

  • Comèl-Netherton syndrome
  • See also:


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