Indian Journal of Dermatology (2020-01-01)

Sisters with no pain, no tears: A report of a new variant of hereditary sensory and autonomic neuropathy (Type IX) Caused by a novel SCN11A mutation

  • Shital Poojary,
  • Saurabh Jaiswal,
  • Kapisha Sunny Shah,
  • Krishna B Bhalala

DOI
https://doi.org/10.4103/ijd.IJD_416_18
Journal volume & issue
Vol. 65, no. 4
pp. 299 – 303

Abstract

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Lack of pain sensation in children involves a rare group of heritable disorders; hereditary sensory and autonomic neuropathy (HSAN). Till date, eight types of HSAN have been described depending on the clinical phenotype and the underlying gene mutation. We report a new variant of HSAN (Type IX) in two siblings (of Indian origin) with a novel mutation of SCN11Agene and a distinct clinical phenotype.

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