Congenital insensitivity to pain

E. Bar-On, D. Weigl, R. Parvari, K. Katz, R. Weitz, T. Steinberg

Research output: Contribution to journalArticlepeer-review

77 Scopus citations

Abstract

We reviewed 13 patients with congenital insensitivity to pain. A quantitative sweat test was carried out in five and an intradermal histamine test in ten. DNA examination showed specific mutations in four patients. There were three clinical presentations: type A, in which multiple infections occurred (five patients); type B, with fractures, growth disturbances and avascular necrosis (three patients); and type C, with Charcot arthropathies and joint dislocations, as well as fractures and infections (five patients, four with mental retardation). Patient education, shoeware and periods of non-weight-bearing are important in the prevention and early treatment of decubitus ulcers. The differentiation between fractures and infections should be based on aspiration and cultures to prevent unnecessary surgery. Established infections should be treated by wide surgical debridement. Deformities can be managed by corrective osteotomies, and shortening by shoe raises or epiphysiodesis. Joint dislocations are best treated conservatively.

Original languageEnglish
Pages (from-to)252-257
Number of pages6
JournalJournal of Bone and Joint Surgery - Series B
Volume84
Issue number2
DOIs
StatePublished - 1 Jan 2002
Externally publishedYes

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