Congenital insensitivity to pain with anhidrosis: ocular and systemic manifestations

Yagev, Ronit; Levy, Jacov; Shorer, Zamir; Lifshitz, Tova

doi:10.1016/s0002-9394(98)00370-5

Cited by 44 publications

(36 citation statements)

References 21 publications

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“…21 In addition, 67% of children with CIPA develop corneal opacities and neuroparalytic keratitis, some requiring surgical intervention. 22 Other medical problems reported in CIPA patients include Charcot joints, bone fractures with poor healing, and limb autoamputations.…”

Section: Discussionmentioning

confidence: 99%

An Infant With Primary Tooth Loss and Palmar Hyperkeratosis: A Novel Mutation in the NTRK1 Gene Causing Congenital Insensitivity to Pain With Anhidrosis

Bonkowsky¹,

Johnson

Carey³

et al. 2003

Pediatrics

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ABSTRACT. Patients with congenital insensitivity to pain and anhidrosis (CIPA), caused by mutations in the NTRK1 gene, can be difficult to diagnose because of their variable presentation, the lack of simple diagnostic tests, and the paucity of cases reported in North America. We describe a 1-year-old infant who had tooth loss and palmar hyperkeratosis as the primary manifestations of CIPA. He was initially evaluated by a pediatric dentist and epidermal dysplasia syndromes were considered, but insensitivity to pain was suspected after a skeletal survey revealed an unrecognized skull fracture. Nerve conduction studies were normal, as was his response to subdermal histamine injection. Sequence analysis of his NTRK1 gene revealed 2 mutations: 1 mutation is novel, while the other has been described previously in a patient of northern European descent. An antibody directed against NTRK1 revealed persistent expression in keratinocytes, consistent with the mutations in this patient. Skin biopsy specimens revealed a lack of epidermal and sweat gland innervation. Immunohistochemistry of skin biopsy specimens, together with routine nerve conduction studies, can provide quick and reliable confirmation if CIPA is clinically suspected. Pediatrics 2003;112:e237-e241. URL: http://www.pediatrics.org/cgi/content/full/112/3/e237; CIPA, NTRK1, tooth loss, hyperkeratosis, insensitivity to pain.

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Section: Discussionmentioning

confidence: 99%

An Infant With Primary Tooth Loss and Palmar Hyperkeratosis: A Novel Mutation in the NTRK1 Gene Causing Congenital Insensitivity to Pain With Anhidrosis

Bonkowsky¹,

Johnson

Carey³

et al. 2003

Pediatrics

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“…6,7 Although many cases of CIPA have been reported, only one-third of them have had corneal involvement. Bilateral corneal involvement in a 6-year-old has been reported earlier by Jarade et al 8 We report this unusual case that we have followed up for 10 years.…”

Section: Discussionmentioning

confidence: 99%

Neurotrophic Keratitis and Congenital Insensitivity to Pain With Anhidrosis—A Case Report With 10-Year Follow-up

John

Thomas²,

Jacob³

2011

Cornea

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“…Mortality from hyperpyrexia within 3 years of life is reported to be almost 20% [5]. The long Á/term outcome is dominated by orthopaedic complications, which range from painless fractures to neuropathic spinal atrophy [2].…”

Section: Discussionmentioning

confidence: 99%

“…Although orthopaedic complications of CIPA have been reported frequently, poor wound healing and susceptibility to infections are among the systemic signs of the disorder [5]. Denervation or absence of pain C fibres in patients with peripheral neuropathy results in an abnormal inflammatory response [9] and impairment of the blood flow to the skin.…”

Section: Discussionmentioning

confidence: 99%

Calcaneal ulcer in a child with congenital insensitivity to pain syndrome

Tunçbi̇lek

Öztekin

Kayıkçıoğlu

2005

Scandinavian Journal of Plastic and Reconstructive Surgery and

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Congenital insensitivity to pain with anhidrosis: ocular and systemic manifestations

Cited by 44 publications

References 21 publications

An Infant With Primary Tooth Loss and Palmar Hyperkeratosis: A Novel Mutation in the NTRK1 Gene Causing Congenital Insensitivity to Pain With Anhidrosis

An Infant With Primary Tooth Loss and Palmar Hyperkeratosis: A Novel Mutation in the NTRK1 Gene Causing Congenital Insensitivity to Pain With Anhidrosis

Neurotrophic Keratitis and Congenital Insensitivity to Pain With Anhidrosis—A Case Report With 10-Year Follow-up

Calcaneal ulcer in a child with congenital insensitivity to pain syndrome

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