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Congenital Insensitivity to Pain due to a de novo L369P mutation in the SCN11A gene with Heterotrophic Ossification -

Gabriel Makar1, Sundeep Kahlon2, Mark Seeley3

  • 1Department of Pediatric Orthopaedics, PGY-4 Orthopaedic Surgery Resident Geisinger Health System, Danville, Pennsylvania 17821, United States.

Journal of Orthopaedic Case Reports
|September 1, 2023
PubMed

Insights

Congenital insensitivity to pain (CIP) patients may develop severe heterotopic ossification (HO). This case highlights a rare, aggressive HO manifestation in a child with a novel SCN11A gene mutation.

Area of Science:

  • Genetics
  • Neurology
  • Orthopedics

Background:

  • Congenital insensitivity to pain (CIP) is a rare condition.
  • Heterotopic ossification (HO) is a poorly understood complication in CIP patients.
  • A novel de novo L369P mutation in the SCN11A gene is identified.
Abstract

Keywords:
Congenital insensitivity to painheterotrophic ossificationpediatrics

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