Congenital Insensitivity to Pain with Anhidrosis Presenting with Palmoplantar Keratoderma

Authors

  • Shirin Sayyahfar M.D.,

    1. Department of Pediatric Infectious Diseases, Ali Asghar Children Hospital, Tehran University of Medical Sciences, Tehran, Iran
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  • Zahra Chavoshzadeh M.D.,

    1. Pediatric Infectious Research Center, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
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  • Mojdeh Khaledi M.D.,

    1. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
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  • Firooz Madadi M.D.,

    1. Department of Orthopedic Surgery, Akhtar Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
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  • Mehrnoosh Hassas Yeganeh M.D.,

    1. Department of Pediatrics, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
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  • Daisuke Sawamura M.D., Ph.D.,

    1. Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
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  • Hajime Nakano M.D., Ph.D.,

    1. Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
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  • Nima Rezaei M.D., Ph.D.

    1. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
    2. Molecular Immunology Research Center; and Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
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Address correspondence to Nima Rezaei, M.D., Ph.D., Children’s Medical Center Hospital, Dr. Qarib St., Keshavarz Blvd, Tehran 14194, Iran, or e-mail: rezaei_nima@tums.ac.ir.

Abstract

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.

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