Congenital insensitivity to pain with anhidrosis. 1993

N Ozbarlas, and F Sarikayalar, and G Kale
Hacettepe University, School of Medicine, Institute of Child Health, Ankara, Turkey.

Congenital insensitivity to pain with anhidrosis is a rare disorder. Its primary clinical features include congenital analgesia, which leads to self-mutilation; inability to sweat, which leads to defective thermoregulation; and mental retardation. A five-year-old boy with consanguineous parents and no family history of the disorder presented with ulcerating lesions on both knees and elbows. His family had discovered the lack of sensation to pain and anhidrosis. Physical examination revealed ulcers on both knees and elbow, self-mutilation of the tongue, fingers, and toes. Sensation to touch was intact and lacrimation was normal. Moderate mental retardation and analgesia were noted in an otherwise normal neurologic examination. The results of electromyographic examination were normal and the application of pilocarpine showed anhidrosis. A skin biopsy specimen was also examined.

UI MeSH Term Description Entries
D007007 Hypohidrosis Abnormally diminished or absent perspiration. Both generalized and segmented (reduced or absent sweating in circumscribed locations) forms of the disease are usually associated with other underlying conditions. Anhidrosis
D008297 Male Males
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000699 Pain Insensitivity, Congenital A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and INTELLECTUAL DISABILITY may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343) Analgesia, Congenital,Pain Indifference, Congenital,Channelopathy-Associated Insensitivity To Pain,Congenital Analgesia,Congenital Indifference to Pain,Congenital Insensitivity To Pain,Congenital Pain Indifference,Congenital Pain Insensitivity,Insensitivity To Pain, Congenital,Insensitivity, Congenital Pain,Congenital Pain Indifferences

Related Publications

N Ozbarlas, and F Sarikayalar, and G Kale
October 1997, Cutis,
N Ozbarlas, and F Sarikayalar, and G Kale
July 2001, Pediatric neurology,
N Ozbarlas, and F Sarikayalar, and G Kale
May 2012, Journal of pediatric neurosciences,
N Ozbarlas, and F Sarikayalar, and G Kale
January 1980, Muscle & nerve,
N Ozbarlas, and F Sarikayalar, and G Kale
September 2015, Annals of neurology,
N Ozbarlas, and F Sarikayalar, and G Kale
May 2011, Indian journal of orthopaedics,
N Ozbarlas, and F Sarikayalar, and G Kale
January 2016, Archives of plastic surgery,
N Ozbarlas, and F Sarikayalar, and G Kale
January 2003, Indian journal of pediatrics,
N Ozbarlas, and F Sarikayalar, and G Kale
March 1989, Pediatric dentistry,
N Ozbarlas, and F Sarikayalar, and G Kale
February 2007, Paediatric anaesthesia,
Copied contents to your clipboard!