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  11. Congenital Insensitivity To Pain With Anhidrosis Is Associated With Harlequin Color Change: A Survey Study

Congenital Insensitivity to Pain With Anhidrosis Is Associated With Harlequin Color Change: A Survey Study

Mahan Maazi1, Joseph M Lam2,3

  • 1Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.

Pediatric Dermatology
|October 18, 2024

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View abstract on PubMed

Summary
This summary is machine-generated.

Harlequin color change, a unilateral flushing, is consistently observed early in patients with Congenital Insensitivity to Pain with Anhidrosis (CIPA). This finding aids in the early diagnosis of this rare condition.

Area of Science:

  • Genetics
  • Neurology
  • Dermatology

Background:

  • Congenital insensitivity to pain with anhidrosis (CIPA), or hereditary sensory and autonomic neuropathy type IV, is a rare condition causing loss of pain sensation and anhidrosis.
  • A previous case report suggested a link between CIPA and harlequin color change.

Purpose of the Study:

  • To investigate the association between harlequin color change and CIPA.
  • To determine the timing of harlequin color change in relation to CIPA symptoms and diagnosis.

Main Methods:

  • A survey was developed using Research Electronic Data Capture (REDCap).
  • The survey was distributed to families and close contacts of patients diagnosed with CIPA.

Main Results:

  • All respondents reported the presence of harlequin color change in CIPA patients.
Keywords:
congenital insensitivity to pain with anhidrosis (CIPA)harlequin color change (HCC)hereditary sensory and autonomic neuropathy (HSAN) type IV

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  • Harlequin color change was noted to appear early, around the onset of initial symptoms or before CIPA diagnosis.
  • Harlequin color change is characterized by unilateral flushing of the face and/or body.

    • Conclusions:

    • Harlequin color change is a significant and early dermatological sign associated with CIPA.
    • Clinicians should consider harlequin color change as a potential indicator for CIPA, particularly during early, diagnostically challenging stages.
    skin flushing