title: 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.affiliation: Department of Pediatric Infectious Diseases, Ali Asghar Children Hospital, Tehran University of Medical Sciences, Tehran, IranPediatric Infectious Research Center, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, IranResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, IranDepartment of Orthopedic Surgery, Akhtar Hospital, Shahid Beheshti University of Medical Sciences, Tehran, IranDepartment of Pediatrics, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, IranDepartment of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, JapanMolecular Immunology Research Center; and Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Shirin
authors.initials: S
authors.lastname: Sayyahfar
authors.forename: Zahra
authors.initials: Z
authors.lastname: Chavoshzadeh
authors.forename: Mojdeh
authors.initials: M
authors.lastname: Khaledi
authors.forename: Firooz
authors.initials: F
authors.lastname: Madadi
authors.forename: Mehrnoosh Hassas
authors.initials: MH
authors.lastname: Yeganeh
authors.forename: Daisuke
authors.initials: D
authors.lastname: Sawamura
authors.forename: Hajime
authors.initials: H
authors.lastname: Nakano
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D002648:Child; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000150:complications* / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D007645:Keratoderma, Palmoplantar / Q000150:complications*; D008297:Male; D020917:Receptor, trkA / Q000235:genetics*; D012883:Skin Ulcer / Q000150:complications
chemical_list: D020917:Receptor, trkA