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Familial Dysautonomia with Anhydrosis (Type IV)

  • Tor Shwayder
  • Samantha L. Schneider
  • Devika Icecreamwala
  • Marla N. Jahnke
Chapter
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Abstract

Familial dysautonomia with anhidrosis type IV is a very rare cause of anhidrosis. It has an autosomal recessive inheritance. The diagnosis is suspected clinically in patients who present with anhidrosis and repetitive trauma; however, a histamine flare test can be performed. These patients will not produce a flare [1]. Once clinically suspected, genetic testing can confirms an abnormal NTRK1 (TRKA) gene, located on chromosome 1 [1]. This gene encodes for a neurotropic tyrosine kinase receptor type 1, which plays an important role in the nerve growth factor pathway ultimately leading to the failure to thrive of unmyelinated fibers and some small myelinated fibers [1].

Reference

  1. 1.
    van den Bosch GE, Baartmans MG, Vos P, Dokter J, White T, Tibboel D. Pain insensitivity syndrome misinterpreted as inflicted burns. Pediatrics. 2014;133(5):e1381–7.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Tor Shwayder
    • 1
  • Samantha L. Schneider
    • 2
  • Devika Icecreamwala
    • 3
  • Marla N. Jahnke
    • 2
  1. 1.Pediatric DermatologyHenry Ford HospitalDetroitUSA
  2. 2.Department of DermatologyHenry Ford HospitalDetroitUSA
  3. 3.Icecreamwala DermatologyBerkeleyUSA

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