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

John, Deepa; Thomas, Maya; Jacob, Paul

doi:10.1097/ico.0b013e3181e458e4

Cited by 7 publications

(2 citation statements)

References 8 publications

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“…[1] It is an extremely rare disorder with only a handful of reports from India. [2–7] Herein we report a rare case of CIPA from South India and highlight its cutaneous findings.…”

Section: Introductionmentioning

confidence: 99%

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

2012

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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.

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“…[1] It is an extremely rare disorder with only a handful of reports from India. [2–7] Herein we report a rare case of CIPA from South India and highlight its cutaneous findings.…”

Section: Introductionmentioning

confidence: 99%

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

2012

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“…Acro-osteolysis leading to amputation of digits is common in patients with congenital insensitivity to pain [ 19 , 40 , 44 , 45 , 49 , 50 , 51 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 , 72 , 73 , 74 , 75 , 76 , 77 , 78 , 79 , 80 , 81 , 82 , 83 , 84 , 85 , 86 , 87 , 88 , 89 , 90 , 91 ]. Acro-osteolysis has been reported to be associated with a number of genetic syndromes, including NOTCH2 -associated Hajdu-Cheney syndrome (MIM 600275), CTSK -associated Pycnodysostosis (MIM 601105), CTSC -associated Haim-Munk syndrome (MIM 245010), IFIH1 -associated Singleton–Merten syndrome 1 (MIM 182250), COL3A1 -associated Ehlers–Danlos syndrome, vascular type (MIM 130050), PDGFRB -associated premature aging syndrome, Penttinen type (MIM 601812), DST -associated hereditary sensory and autonomic neuropathy, type VI (HSAN6; MIM 614653) [ 92 ], and WNK1 -associated hereditary sensory and autonomic neuropathy, type II (MIM 201300) ( : 8 January 2024).…”

Section: Discussionmentioning

confidence: 99%

Homozygosity for a Rare Plec Variant Suggests a Contributory Role in Congenital Insensitivity to Pain

Kantaputra,

Daroontum,

Kitiyamas

et al. 2024

IJMS

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Congenital insensitivity to pain is a rare human condition in which affected individuals do not experience pain throughout their lives. This study aimed to identify the molecular etiology of congenital insensitivity to pain in two Thai patients. Clinical, radiographic, histopathologic, immunohistochemical, and molecular studies were performed. Patients were found to have congenital insensitivity to pain, self-mutilation, acro-osteolysis, cornea scars, reduced temperature sensation, tooth agenesis, root maldevelopment, and underdeveloped maxilla and mandible. The skin biopsies revealed fewer axons, decreased vimentin expression, and absent neurofilament expression, indicating lack of dermal nerves. Whole exome and Sanger sequencing identified a rare homozygous variant c.4039C>T; p.Arg1347Cys in the plakin domain of Plec, a cytolinker protein. This p.Arg1347Cys variant is in the spectrin repeat 9 region of the plakin domain, a region not previously found to harbor pathogenic missense variants in other plectinopathies. The substitution with a cysteine is expected to decrease the stability of the spectrin repeat 9 unit of the plakin domain. Whole mount in situ hybridization and an immunohistochemical study suggested that Plec is important for the development of maxilla and mandible, cornea, and distal phalanges. Additionally, the presence of dental anomalies in these patients further supports the potential involvement of Plec in tooth development. This is the first report showing the association between the Plec variant and congenital insensitivity to pain in humans.

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Congenital insensitivity to pain and anhidrosis: Case report and review of findings along neuro-immune axis in the disorder

Varma

McBride

Marble

et al. 2016

Journal of the Neurological Sciences

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

Abstract: Patients with congenital insensitivity to pain with anhidrosis are asymptomatic even when they develop corneal ulcer. Parents should be advised regular follow-up and prompt treatment because this is a vision-threatening corneal abnormality.

Cited by 7 publications

References 8 publications

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

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

Homozygosity for a Rare Plec Variant Suggests a Contributory Role in Congenital Insensitivity to Pain

Congenital insensitivity to pain and anhidrosis: Case report and review of findings along neuro-immune axis in the disorder

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