International Journal of Medical and Dental Case Reports

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Congenital insensitivity to pain - A rare case report
  IJMDCR
CASE REPORT
Congenital insensitivity to pain - A rare case report
Tejavathi Nagaraj, Haritma Nigam, Sita Gogula, Swati Saxena
Department of Oral Medicine and Radiology, Sri Rajiv Gandhi College of Dental Sciences and Hospital, Bengaluru, Karnataka, India
Correspondence: Dr. Haritma Nigam, Department of Oral Medicine and Radiology, Sri Rajiv Gandhi College of Dental Sciences and Hospital, Bengaluru, Karnataka, India.
E-mail: dr.haritmanigam@gmail.com
Received 01 February 2018;
Accepted 05 March 2018
doi: 10.15713/ins.ijmdcr.81
 
ABSTRACT
Congenital insensitivity to pain is defined as persistent occurrences of infections and inexplicable fever, anhidrosis (inability to sweat), and lack of response to deleterious stimuli, self-mutilating performance, mental abnormalities, and injuries to oral cavity. This syndrome can be diagnosed by clinical features, and genetic test is considered as a diagnostic tool. The diagnosis of this syndrome should be done earlier to provide greater lifespan to the patient, thus preventing ejections. In the present case, 3-year-old boy came to our department with the chief complaint of shaking upper front teeth for 1 day and his parents gave a history of congenitally absence of pain and temperature sensations since birth.
Keywords: Genetics, pain, self-mutilation
How to cite the article: Nagaraj T, Nigam H, Gogula S, Saxena S. Congenital insensitivity to pain - A rare case report. Int J Med Dent Case Rep 2018;4:1-4
 
 

Introduction

Pain vastly shows shielding effect for the body as it shows a repulsive response causing removal from slightly harmful stimuli that can cause definite or possible tissue destruction. "Congenital insensitivity to pain" is an infrequent ailment, characterized by sensory experience that may be designated as an hostile responsiveness of a harmful provocation or bodily damage.[1] It shows its deleterious effect in various disorders where its late appearance shows life-threatening complications. The striking features of congenital insensitivity to pain are traumatic injury and self-mutilation, and the most frequently involved area are oral which includes teeth, lips, and surrounding structures such as lips, ears, eyes, nose, and fingers.[2,3] In few cases, self-removal of teeth has also been noted. This condition occurs due to deleterious effect on both myelinated and unmyelinated nerve fibers, which is considered by weakened or lacking sensitivity to pain, touch, and pressure on the extremities and other parts of the body without patient awareness of the pain causing burns at high temperatures seen predominantly in children.[4]

Case Report

A 3-year-old male child presented to the department of oral medicine and Radiology with the chief complaint of loose upper front teeth since 1 day, consulted demtist and got splinting done for the same [Figure 1]. In history of presenting illness patient's parents gave history of fall while playing and got hit with cot, bleeding, andmobility was present in the upper front teeth since then they also reported that the patient is insensitive to pain as well as insensitive to hot or cold temperatures and blunt or sharp injuries since birth. Patient's parents gave a history of consanguineous marriage and self-mutilated injuries over legs, hand, lip, tongue, head, and even self-removal of splinting done by the dentist immediately after reaching home [Figure 2]. On extraoral examination, wounds and scars were observed on upper and lower limb and on chin region [Figures 3-5]. The patient gave a history of trauma 2 years back, and middle toe of lower limb appears to be shorter than other toes and absence of nail was noticed [Figure 6]. Another history of trauma was present 1 week back with the right thumb showing healing abraded wound. On intraoral examination, lacerated wound was present on the right and left lateral border of the tongue, corner of the mouth, and on upper and lower labial mucosa. His upper lip appears to be swollen. On hard tissue examination, teeth present were 51, 52, 53, 54, 55, 61, 62, 63, 64, 65, 71, 72, 73, 74, 75, 81, 83, 84, and 85. Physiologic mobility was present in relation to 51 and 61. Ellis class IX fracture was present in relation to 52 and 62. Clinically, 82 was missing, but patient's parents did not gave any history of self-extraction or exfoliation, only space was present in relation to 82. On investigations, intraoral periapical radiograph was taken and 51 was extracted under local anesthesia and splinting was done in relation to 52 and 62 with flowable composite and stainless steel wire.

 
Its treatment requires a multidisciplinary approach with the specialists involved as pediatrics, orthopedics, dentistry, ophthalmology, and dermatology. Genetic counseling for theparents is of utmost importance. The patient should be treatedwith intravenous antibiotics to reduce infections, hand and footguards to reduce injury, and referred to dentist for the oral guardand ophthalmologist for the evaluation of eyes.

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Nsagaraj, et al. Congenital insensitivity to pain - A rare case report

Congenital insensitivity to pain - A rare case report
Figure 1: Profile frontal view

Congenital insensitivity to pain - A rare case report
Figure 2: Wounds on head

Congenital insensitivity to pain - A rare case report
Figure 3: Wounds in hands

 
Congenital insensitivity to pain - A rare case report
Figure 4: Wounds in palms

Congenital insensitivity to pain - A rare case report
Figure 5: Wounds in knees

Congenital insensitivity to pain - A rare case report
Figure 6: Wounds in digits of legs with small digit

Discussion

In 1932, it was firstly described by Dearborn as "congenital pureanalgesia."[1,5]

In 1975, McMurray suggested that diminishing of painperception due to mental retardation, infection, and trauma isnot considerable as "congenital universal insensitivity to pain."[1,2]In 1983, Dyck et al. recommended the diagnostic criteria for thedisease on the basis of histological, microscopic, and morphometricmethods for the assessment of nerve fiber pathology.[1,3] Itsother synonyms are hereditary sensory autonomic neuropathy(HSAN), congenital general pure analgesia (Dearborn, 1932),congenital universal insensitiveness to pain (Ford and Wilkins,1938), congenital universal indi?erence to pain (Boyd and Nie,1949), congenital absence of pain (Winkelmann, 1962), andMorvan syndrome.[6]

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Nsagaraj, et al. Congenital insensitivity to pain - A rare case report

Three diagnostic criteria was proposed by Thrush for definingcongenital insensitivity to pain:
  1. Absence of pain congenitally.
  2. Complete body a?ect observed.
  3. Undamaged or minimally compromised other sensorymodalities and tendon reflexes present.[1]

These neuropathies was firstly described by in 1966 by Pinskyand DiGeorge and was later on revised by Dyck in 1984 whocategorized them into five types: [4,5]

Type 1: It is a result of autosomal dominant inheritance whichoccurs due to missense mutations in the human gene SPTLC1present at the locus 9q22.1-q22.3. Serine palmitoyltransferase is apyridoxal-5'-phosphate-dependent enzyme.[4,5] The disease occursbetween 2nd and 4th era of lifetime. Initial signs often involve theabsence of pain and temperature sensation principally in the distalparts of the lower limbs with further progression to more proximalparts and hands. Later on, there may be a loss of pinprick andsurface sensation with the preservation of vibration sense.[1]

Type 2: It follows autosomal recessive trait which due to mutationsin the HSN2 gene (hereditary sensory neuropathy) presents atlocus 12p13.33.[4,5] The condition is presenting in infancy or earlychildhood. Initially, the patient complains of numbness in distalextremities. Later on, pain, temperature, and touch sensations werealso affected, and in severe cases apart from the limbs, it may affecttrunk also. There was no effect in patient's mental status. Absence ofsensory nerve action potentials with normal functioning of motornerves. The absence of sweating will be absent with no effect on theregulation of temperature and blood pressure.[1,7]

Type 3: It is recognized as familial dysautonomia or Riley-Day syndrome affecting predominantly Ashkenazi Jews. It isan autosomal-recessive inheritance, and IKB kinase complexassociatedprotein (KAP) gene IKBKAP is responsible which islocated at locus 9q31 in the site of mutation.[4,5] Initially, signsare nourishing problems due to deprived oral harmonization andhypotonia. Clinically, there will be reduction in pain perception,unknown fevers, hypertension, and postural hypotension which istriggered due to defective control mechanisms of temperature andblood pressure. Patients suffer from oropharyngeal incoordinationand feeding complications due to abnormal gastroesophagealmotility, vomiting, and recurrent aspiration pneumonia initiatingprolonged lung disease. Musculoskeletal manifestations includeataxic gait, severe kyphoscoliosis, and deformities of the feetleading to increased incidence of fractures.[1,4]

Type 4: It is the most widespread type with the striking featureof anhidrosis and hence known as congenital insensitivity to painwith anhidrosis. It is an autosomal recessive inheritance affecting"NGF-tyrosine kinase system." It is characterized by persistentincidences of unknown fever, and despite the presence of normalsweat glands, it affects the normal functioning of perspiration,insensitivity to pain, self-mutilation, and mild mental retardation.Intraorally, laceration and ulceration of the tongue, lips, and otheroral mucosa were found due to the presence of bite wounds asthere was a total absence of pain and temperature sensations. Inmany cases, self-extractions along with severe dental attritionhave also been reported. Another distinctive feature in Type IVwas found to be decubital ulcer on the ventral surface of thetongue which may cause tongue injury during sucking or nursingafter the eruption of incisal edges of erupting mandibular primaryincisors as seen in case of Riga-Fede disease, which is caused bymechanical irritation by the incisal edge of the natal or neonatalmandibular incisors. Further, oral trauma, such as tongue or lipbiting, is observed with the eruption of the upper and mandibularprimary. One of the diagnostic signs of HSAN IV is unrestrainedtongue biting with the primary incisors leading to the severelyinjured tongue with the presence of tissue laceration and excessivebleeding along with infection, fever, or malnutrition.[5,7]

 
Type 5: It is an autosomal recessive disorder due to NGF betagene mutation. Clinically, pain and temperature insensitivityare apparent in childhood, with the manifestations of painlessfractures, ulcers, and burns. Classically, self-mutilation wasobserved as biting of the lips, and tongue was present. In thistype, pain and temperature sensitivity are lacking, whereasproprioception and sensitivity to touch, pressure, and vibrationare unaffected. The autonomic manifestations are variable, withminimal autonomic abnormalities and blotching, abnormalsweating, difficulties with feeding, and elevated temperatures.[1,4]

Oral manifestations of HSAN

Innumerable oral indicators that are frequently appreciatedin HSAN patients are as follows: Trauma to the tongue leadingto chronic non-healing ulcers, trauma to lower lip, severe cheekbiting leading to the formation of thick fibrous scars owing toreduced mouth opening, missing teeth due to self-extractionor dental sepsis, insensitivity to dental pain leading to spaceinfections or dental sepsis, increased incidence of fractures andosteomyelitis of jaws, increased incidence of traumatic ulcersorally, dryness or fissuring of vermillion border of lip due toanhidrosis, severe dental attrition and cervical abrasions, erosionof teeth due to regurgitation of fluids because of defectivegastroesophageal motility, abnormal gastroesophageal motilitymay cause feeding worries and recurrent vomiting in children,xerostomia and increased incidence of dental caries, and oralinfections such as candidiasis. Although patients are sensitiveto thermal stimuli, they may be unaware of the pain associatedwith high temperatures, thus leading to burns of oral mucosa,especially palate, due to hot food or beverages, etc.[6]

Role of a Dentist

By taking into consideration the degree of self-injury, there areseveral methods that can be imparted for the prevention of theoral mucosal injuries in these patients, such as follows:
  • Contouring the sharp surfaces of teeth (enameloplasty)or addition of composite restorations.
  • Usage of mouth guards or tongue guards and otherappliances for the prevention of injury to the tongue.
  • Extraction of offending teeth.

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Nsagaraj, et al. Congenital insensitivity to pain - A rare case report

However, the usage of intraoral appliances is oftenproblematic to implement in cases where eruption of the primaryincisors is leading to self-mutilation. Therefore, extractions ofobvious teeth should be done as soon as possible.[4]

Thus, the role of dental team is of utmost importance so thatthe condition of such patients should be diagnosed as early aspossible and then regular follow-up is necessary is required toavoid further consequences.

In the present case, the affected child was an infant with nomental retardation, but his parents gave a history of impairmentof pain and temperature since his childhood, and self-mutilatedinjuries were observed over legs, hand, lip, tongue, and headand even he tried for self-removal of splinting, and hence, wediagnosed it as type II congenital analgesia patient.

Conclusion

Congenital insensitivity to pain is an uncommon disordercategorized by self-mutilating behavior leading to the child tooral ulcerations on lips, tongue, and cheeks and also finger andhand biting. This ailment characterizes a challenge to the dentistand should be diagnosed and treated appropriately as early aspossible to avoid life-threatening complications.

 
References
  1. Elna MN, Louise AO, Robert D. Congenital insensitivity to pain:An update. Pain 2003;101:213-9.
  2. Jonathan B, Padraig F, Webb D. Congenital insensitivity to pain- Review and report of a case with dental implications. OralSurg Oral Med Oral Pathol Oral Radiol Endod 2006;101:58-62.
  3. Littlewood SJ, Mitchell L. Dental problems and managementof patient suffering from congenital insensitivity to pain. Int JPediatr Dent 1998;8:47-50.
  4. Auer-Grumbach M, Mauko B, Auer-Grumbach P,Pieber TR. Molecular genetics of hereditary sensoryneuropathies. Neuromolecular Med 2006;8:147-58.
  5. Miranda C, Di Virgilio M, Selleri S, Zanotti G, Pagliardini S,Pierotti MA, et al. Novel pathogenic mechanisms of congenitalinsensitivity to pain with anhidrosis genetic disorder unveiledby functional analysis of neurotrophic tyrosine receptor kinasetype 1/nerve growth factor receptor mutations. J Biol Chem2002;277:6455-62.
  6. Kumar AV, Jaishankar HP, Naik P. Congenital insensitivityto pain: Review with dental implications. Indian J Pain2014;28:13-7.
  7. Amano A, Akiyama S, Ikeda M, Morisaki I. Oral manifestationsof hereditary sensory and autonomic neuropathy Type IV.Congenital insensitivity to pain with anhidrosis. Oral Surg OralMed Oral Pathol Oral Radiol Endod 1998;86:425-31.

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