Congenital insensitivity to pain and anhidrosis: A case report from South India

Abstract

Congenital insensitivity to pain with anhidrosis, also known as hereditary sensory and autonomic neuropathy type IV, is an autosomal recessive disorder characterized by the congenital lack of pain sensation, inability to sweat, episodes of recurrent hyperpyrexia, mental retardation, and self-mutilating behavior. It is an extremely rare disorder with only a handful of reports from India. A five- year- old boy, born to second-degree consanguineous parents after uneventful antenatal period, presented to us with history of recurrent unexplained fever, recurrent ulcers in the lower limbs, insensitivity to painful stimuli (like injections, vaccination) and self-mutilating behavior from early childhood. Cutaneous examination showed multiple ulcers, loss of teeth, loss of tip of the tongue (due to biting), scarring of finger tips, xerosis and lichenification. Sensory examination showed complete loss of pain and temperature sensations, but fine touch and vibration were preserved. Deep tendon reflexes were normal. Evaluation for Hansen's disease was non-contributory. An intradermal injection of histamine did not show any flare response. Based on clinical as well as compatible histological features a diagnosis of congenital insensitivity to pain with anhidrosis was made. The ulcers were treated with appropriate antibiotics and daily dressings. The parents were counseled about appropriate care of the child.

Clinical and Radiographic Evaluation of Ten Congenital Insensitivity to Pain with Anhidrosis Patients

“…Regarding the Oro-dental findings, missing teeth was the most commonly seen in our study, followed by the self-inflicted soft tissue injuries. Missing teeth is a frequent finding in CIPA patients (10)(11)(12)(13)(14)(15)(16)(17) . The teeth are usually lost either by auto extraction or by prophylactic extraction in order to avoid further trauma.…”

Congenital insensitivity to pain with anhidrosis and multiple Charcot joints in a child: A case report

“…Other features may include bruises, joint dislocations, multiple fractures, oral manifestations, and aggressive behaviors causing painless injuries to the extremities. [2] CIPA is a very rare autosomal recessive disorder and although there are no data about the prevalence of this syndrome, which is not commonly seen in clinical practice. [2] The incidence of 1/125,000,000 is reported.…”

“…[2] CIPA is a very rare autosomal recessive disorder and although there are no data about the prevalence of this syndrome, which is not commonly seen in clinical practice. [2] The incidence of 1/125,000,000 is reported. It is believed to be caused by a mutation in the neurotrophic tyrosine receptor kinase 1 (NTRK1), which affects the nerve growth factor in the embryonic period and is located on chromosome 1q21-q22.…”

“…It is believed to be caused by a mutation in the neurotrophic tyrosine receptor kinase 1 (NTRK1), which affects the nerve growth factor in the embryonic period and is located on chromosome 1q21-q22. [2] In most patients, the autonomic nervous system might be affected as well. [1] This condition is known as hereditary sensory and autonomic neuropathy (HSAN).…”

Anhidrozisli Konjenital Ağrıya Duyarsızlık Sendromu: Bir Olgu Sunumu

“…Anhidroza sekonder ateş epizotları, mental retardasyon, ağrı hissinin yokluğu ve bundan dolayı da kendine zarar verici davranışlar AKADS'nin değişmez bulgularıdır. Bunun dışında özellikle dişlerini kullanarak kendilerine zarar verici davranışlar, ağrı hissinin olmaması nedeniyle tekrarlayan travmalara bağlı çoklu kırıklar, osteomiyelit ve amputasyona gidebilecek kemik, eklem deformiteleri, eklem dislokasyonları, parmakta otoamputasyonlar ve korneal ülserasyonlar sendromun diğer özellikleri arasındadır (6,7). Sendroma ait spesifik bir deri bulgusu yoktur.…”