Congenital insensitivity to pain with anhidrosis

Maria Silvia Guidetti, Bianca Maria Piraccini, Cosimo Misciali, Antonella Tosti, Francesco Bassi

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

A 1-year-old girl presented with dystrophic fingernails and ulcerating lesions and scars of the distal portion of the fingers. Since birth she had been suffering from recurrent episodes of hyperpyrexia, especially when the external temperature was high. Neurological examination revealed complete analgesia, the other sensory perceptions being normal. Evaluation of sweat gland activity using Minor's method showed almost complete anhidrosis. During the 2-year follow-up the patient undertook self-extraction of two of her teeth and developed painless fractures of the right tibia, resulting in a neuropathic arthropathy of the knee (Charcot joint). Clinical manifestations of congenital insensitivity syndrome usually appear at the time of tooth eruption. Dermatological signs include ulcerations and marked edema of the tongue and lips, periungual ulcerations, nail deformities and even severe finger mutilations.

Original languageEnglish (US)
Pages (from-to)278-279
Number of pages2
JournalEuropean Journal of Dermatology
Volume6
Issue number4
StatePublished - Jun 12 1996
Externally publishedYes

Keywords

  • Analgesia
  • Anhidrosis

ASJC Scopus subject areas

  • Dermatology

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