Congenital insensitivity to pain and anhidrosis

Sasnur, Ashok H; Sasnur, Prakash A.; Ghaus-ul, Raza Shamikh Muneer

doi:10.4103/0019-5413.80047

Cited by 20 publications

(10 citation statements)

References 12 publications

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“…Thus, the mutation in NTRK1 causes deficient development of the somatic sensory system, which is located in dorsal root ganglion sensory neurons for pain and temperature [ 5 ]. Development of the autonomic sympathetic nervous system is also affected and results in lost innervation of sweat glands by the sympathetic nervous system [ 6 ]. Central nervous system and bidirectional communication between immune system and nervous system are also affected by NTRK1 mutation [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

Case Study of a Rare Genetic Disorder: Congenital Insensitivity to Pain With Anhidrosis

Mughal¹,

Farhat²

2021

Cureus

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A rare autosomal recessive disorder, congenital insensitivity to pain with anhidrosis, is characterised by the congenital lack of pain sensation. Other characteristic symptoms include no sweating, recurrent episodes of hyperpyrexia, retardation of mental abilities and self-mutilating behaviour. Herein, we present a case of a one-year-old male child who initially presented with self-bites on the tongue and then multiple fractures with no report of pain or crying, which initially indicated carelessness of parents. Based on further in-depth assessment indicating a family history of similar weak bones and no pain, the paediatric team conducted investigations along with genetic tests. The child was diagnosed with congenital insensitivity to pain with anhidrosis. Another sibling born later also had the same disorder. Both the children developed eczema, which was difficult to cure due to constant scratching by children as they did not feel any pain. Follow-up studies indicated a slight difficulty in learning abilities and delay in the achievement of milestones. This case report indicates the need for rigorous investigations in such cases to understand the aetiology and appropriate counselling of parents for the utmost care of the child.

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Section: Introductionmentioning

confidence: 99%

Case Study of a Rare Genetic Disorder: Congenital Insensitivity to Pain With Anhidrosis

Mughal¹,

Farhat²

2021

Cureus

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“…2 HSAN type I is the most common type with autosomal dominant inheritance. The onset of symptoms occurs in second to fourth decade of life with progressive sensory loss and chronic perforating ulcers of feet and progressive destruction of underlying bones.…”

Section: Discussionmentioning

confidence: 99%

Hereditary sensory autonomic neuropathy type V: a rare case report

Madhura

Sowrabha

Manjunath

et al. 2018

Int J Contemp Pediatr

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Hereditary sensory autonomic neuropathy (HSAN) type V is a rare autosomal recessive condition caused by mutation in neurotrophic tyrosine kinase receptor type 1 gene located on chromosome 1 (1q21-1q22). It is characterized by pain insensitivity, partial anhydrosis without mental retardation and unimpaired touch and pressure sensitivity. Self-mutilation injury involving teeth, lips, tongue, ears, eyes, nose and fingers are invariable feature of this disorder. This rare disorder can be extremely challenging for the physicians as the symptoms like pain, tenderness is absent and hence most of the symptoms and injuries are frequently missed. Here we report a case of 1-year old female child with HSAN type V, having the typical clinical manifestations of pain insensitivity causing self-mutilation. Apart from the classical manifestations of HSAN type V, our case also had bilateral corneal opacity.

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“…16 Orthopaedic manifestations in CIPA 14,17,18 are musculoskeletal infections, fractures, growth disturbances, avascular necrosis, Charcot arthropathy, 19 joint dislocations, heterotopic ossification, and un-united fractures. 1 Chronic or acute-on-chronic osteomyelitis and septic arthritis of haematogenous origin are the usual presentations. They often occur secondary to trophic ulcers and involve joints of the hand and foot and sometimes ankle and wrist.…”

Section: Discussionmentioning

confidence: 99%