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Pediatr Dermatol ; 30(6): 754-6, 2013.
Article in English | MEDLINE | ID: mdl-22957891

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.


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