Congenital insensitivity-to-pain with anhidrosis (CIPA): A case report with 4-year follow-up

Schalka, Mariângela M. S.; Corrêa, Maria Salete Nahás Pires; Ciamponi, Ana Lídia

doi:10.1016/j.tripleo.2005.07.030

Cited by 21 publications

(20 citation statements)

References 12 publications

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“…This condition represents a challenge to the dentist, especially to the paediatric dentist, who is concerned with an early intervention and because patients can be below normal with respect to intelligence, development and psychological adjustments. The observation of a premature loss of teeth may be of value for an early diagnosis (27–29). As oral ulcerations and premature loss of teeth may represent early manifestations of this rare disorder, dentists should always keep in mind that these clinical signs can be because of CIP.…”

Section: Discussionmentioning

confidence: 99%

Orthodontic treatment and management of limited mouth opening and oral lesions in a patient with congenital insensitivity to pain: case report

Paduano

Iodice

Farella

et al. 2008

J of Oral Rehabilitation

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Summary Congenital insensitivity to pain is a rare clinical syndrome characterized by dramatic impairment of pain perception since birth and is generally caused by a hereditary sensory and autonomic neuropathy with loss of the small‐calibre, nociceptive nerve fibres. We report a 9‐year‐old case, with a generalized congenital insensitivity to pain. The patient was referred to our Department by a private orthodontist for severe limited mouth opening and multiple oral ulcers which greatly worsened after starting the orthodontic treatment. The management of his oral lesions of the limited mouth opening and of the orthodontic treatment are described. The management approach aimed to improve mandibular range of motion and associated stretching and a self‐modeling mouthguard to avoid cheek self‐biting. This protocol allowed continuing the orthodontic treatment to restore the occlusion. Finally, good occlusion, normal function and better quality of patient’s life were achieved.

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Section: Discussionmentioning

confidence: 99%

Orthodontic treatment and management of limited mouth opening and oral lesions in a patient with congenital insensitivity to pain: case report

Paduano

Iodice

Farella

et al. 2008

J of Oral Rehabilitation

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“…Thus far, several hundred cases of CIPA have been reported, and most of them are in pediatric patients [3]. Primary clinical characteristics of CIPA include congenital insensitivity to pain, particularly in extremities and oral tissue, self-mutilating behavior, temperature-sensing defects, and mental retardation [4]. CIPA-affected children fail to sweat, have unexplained episodes characterized by recurrent traumatic and thermal injuries, and are typically below-average height and weight for their age.…”

Section: Introductionmentioning

confidence: 99%

“…Their self-mutilating behavior primarily involves the orofacial region. Oral manifestations include premature tooth loss, lacerations and ulcerations of oral soft tissues, limited ability to open the mouth due to intra-oral scarring, severe dental attrition and tooth luxation, and a high incidence of dental caries [4], [5]. To our knowledge, dental histopathological manifestations have never been reported, and it is still unclear whether oral and dental phenotypes are associated with corresponding histopathological abnormalities.…”

Section: Introductionmentioning

confidence: 99%

Oral and Craniofacial Manifestations and Two Novel Missense Mutations of the NTRK1 Gene Identified in the Patient with Congenital Insensitivity to Pain with Anhidrosis

Gao

Guo

Ye³

et al. 2013

PLoS ONE

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Congenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited disorder of the peripheral nervous system resulting from mutations in neurotrophic tyrosine kinase receptor 1 gene (NTRK1), which encodes the high-affinity nerve growth factor receptor TRKA. Here, we investigated the oral and craniofacial manifestations of a Chinese patient affected by autosomal-recessive CIPA and identified compound heterozygosity in the NTRK1 gene. The affected boy has multisystemic disorder with lack of reaction to pain stimuli accompanied by self-mutilation behavior, the inability to sweat leading to defective thermoregulation, and mental retardation. Oral and craniofacial manifestations included a large number of missing teeth, nasal malformation, submucous cleft palate, severe soft tissue injuries, dental caries and malocclusion. Histopathological evaluation of the skin sample revealed severe peripheral nerve fiber loss as well as mild loss and absent innervation of sweat glands. Ultrastructural and morphometric studies of a shed tooth revealed dental abnormalities, including hypomineralization, dentin hypoplasia, cementogenesis defects and a dysplastic periodontal ligament. Genetic analysis revealed a compound heterozygosity- c.1561T>C and c.2057G>A in the NTRK1 gene. This report extends the spectrum of NTRK1 mutations observed in patients diagnosed with CIPA and provides additional insight for clinical and molecular diagnosis.

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“…[6] Use of mouth guard and early tooth extraction are described to prevent these complications. Skin complications due to anhidrosis[7] and ocular complications due to painless injuries[89] are not uncommon.…”

Section: Discussionmentioning

confidence: 99%

Case series: Congenital insensitivity to pain and anhidrosis

Rahalkar¹,

Rahalkar²,

Joshi³

2008

Indian J Radiol Imaging

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Congenital insensitivity-to-pain with anhidrosis (CIPA): A case report with 4-year follow-up

Cited by 21 publications

References 12 publications

Orthodontic treatment and management of limited mouth opening and oral lesions in a patient with congenital insensitivity to pain: case report

Orthodontic treatment and management of limited mouth opening and oral lesions in a patient with congenital insensitivity to pain: case report

Oral and Craniofacial Manifestations and Two Novel Missense Mutations of the NTRK1 Gene Identified in the Patient with Congenital Insensitivity to Pain with Anhidrosis

Case series: Congenital insensitivity to pain and anhidrosis

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