Congenital insensitivity to pain with anhidrosis. Report of a case and review of the literature.
In a previous paper published in this journal, we reported two cases of "Congenital Sensory Neuropathy with Anhidrosis" with reference to the orthopedic complications (Theodorou et al., 1985). We now present a new typical case, under the currently used term: "Congenital Insensitivity to Pain with Anhidrosis" (CIPA) and a brief review of the literature on the incidence, etiology and problems arising in various systems. CIPA is an autosomal recessive form of sensory neuropathy manifesting with typical clinical features. Universal insensitivity to pain, anhidrosis or hypohidrosis, bouts of hyperpyrexia from very young age, self inflicted injuries, defective or absent lacrimation and mental retardation are specific diagnostic findings. Orthopedic, maxillofacial, dermatological and ophthalmologic complications are common. Counseling of the family and school personnel for the prevention of injuries is necessary. Early diagnosis is very important for the prevention and treatment of various complications. The etiology and pathogenesis of the condition is still unclear. The recent detection of a new gene, which encodes a receptor tyrosine kinase for nerve growth factor and lately of a specific point mutation associated with the gene inactivation11, may open new ways for the study and management of this disabling condition.
Theodorou
S D
SD
University of Athens, Greece.
Klimentopoulou
A E
AE
Papalouka
E
E
D002675:Child, Preschool; D003376:Counseling; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007007:Hypohidrosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D020932:Nerve Growth Factor / Q000235:genetics*; D017354:Point Mutation; D011379:Prognosis; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D016728:Self-Injurious Behavior; D014947:Wounds and Injuries / Q000517:prevention & control
D020932:Nerve Growth Factor; D011505:Protein-Tyrosine Kinases