Congenital insensitivity to pain with anhidrosis presenting with palmoplantar keratoderma.

Abstract

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal-recessive disease caused by mutations in the NTRK1 gene. The disease is characterized by insensitivity to pain and absence of thermal perception. Herein a 6-year-old boy is presented with a large ulcer on the sole of his right foot and a thick, hyperkeratotic appearance of his palms and soles; there was also a medical history of hyperthermia, anhidrosis, recurrent bone fractures, osteomyelitis, injuries, mental retardation, dry and exfoliative skin, insensitivity to pain, and lack of thermal sensation. Genetic studies revealed a homozygote mutation in the NTRK1 gene. Although the patient initially presented with palmoplantar keratoderma, genetic studies confirmed the diagnosis of CIPA.

• Authors: Shirin Sayyahfar, Zahra Chavoshzadeh, Mojdeh Khaledi, Firooz Madadi, Mehrnoosh Hassas Yeganeh, Daisuke Sawamura, Hajime Nakano, Nima Rezaei
• Journal: Pediatric dermatology (Pediatr Dermatol) 2013 Nov-Dec Vol. 30 Issue 6 Pg. 754-6 ISSN: 1525-1470 [Electronic] United States
• PMID: 22957891 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2013 Wiley Periodicals, Inc.

Chemical References

• Receptor, trkA

Topics

• Child
• Hereditary Sensory and Autonomic Neuropathies (complications, genetics)
• Homozygote
• Humans
• Intellectual Disability (complications)
• Keratoderma, Palmoplantar (complications)
• Male
• Receptor, trkA (genetics)
• Skin Ulcer (complications)