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Oral and maxillofacial manifestations of hereditary sensory neuropathy
Oral and maxillofacial manifestations of hereditary sensoryneuropathy V. Narayanan Maxillofacial
Unit, St Luke’s Hospital, Bradford, UK
SUMMARY. Hereditary sensory neuropathies are a rare group of neurological disorders manifested from early childhood by diminished or absent sensibility to pain, touch and temperature. A Kashmiri family with four members affected by congenital sensory neuropathy and its oral manifestations is described. Pain and temperature sensation was lost in various parts of the body including the orofacial region resulting in mutilating acropathy, particularly of the limbs and face. Orofacial motor function was normal. Three of the four members had cornea1 opaciflcation due to scarring from keratitis. To prevent any further mutilation, any corrective surgery is best delayed until the patient is old enough. A discussion of the oral manifestations of this condition with a review of the literature is presented.
INTRODUCTION Hereditary sensory neuropathies are a rare group of neurological disorders manifested from early childhood by diminished sensibility to pain, touch and temperature. Reports were published as early as 18.52’ of familial cases of mutilating acropathy, primarily affecting the lower extremities. The recognition that these could be due to a hereditary sensory neuropathy came with the report by Ogryzlo.2 However, the first demonstration of a sensory neuropathy was provided by Jughenn et al3 when a single case came to autopsy in which loss of myelinated nerve fibres, perineural thickening and schwann cell proliferation were observed. The general neurological manifestations of congenital sensory neuropathy affecting three members of a Kashmiri family were described by Donaghy et al4 The present report describes the oral and maxillofacial manifestations of four members of the same family affected by congenital sensory neuropathy, probably of autosomal recessive inheritance and thought to be associated with loss of small myelinated nerve fibres. Fig. 1 - Case1 showingthe cornea1opacificationdue to neurotrophickeratitis.
Case reports Case I
on palpation due to what was thought to be fibrous bands. She underwent a biopsy of the cheek mucosa, which appeared to be normal histologically. Routine haematological investigations and bioprofile were carried out, the results of which were normal. The patient was reviewed 5 months later when she presented with exposure of the crestal bone due to sloughing of the mucosa in the right upper molar region. She had also exfoliated another tooth and it was thought at this stage that self mutilation was the cause of this unusual problem. She was referred to a child psychiatrist, who thought that the oral problems were due to the lack of pain perception rather than intentional self-inflicted injuries. The patient returned a year later when
A 11-year-old Kashmiri girl was referred to the Maxillofacial Unit by a Community Dental Officer with a history of ‘teeth falling out’. She was the first child born of consanguineous parents and had four younger brothers of whom the last is also described in this report. There was no history of overt trauma or gross periodontal disease. She lacked vision in both eyesdue to severecornea1scarring from neurotrophic keratitis (Fig. 1). She had ulcerated lesions of the finger tips of both hands which seemed to be healing. Trophic changes had been noted on her tongue, lip and finger tips from as early as 18 months of age. Intraoral examination revealed freshly extracted sockets in the right upper molar region. The cheek mucosa was hard 446
Oral and maxillofacial manifestations of hereditary sensory neuropathy she had developed bilateral oroantral fistulae in the molar region. Both the fistulae were surprisingly asymptomatic and neither the patient nor her parents were aware of the condition. She underwent repair of the fistulae but there was breakdown of the wound on the right side resulting in a further asymptomatic fistula. Orofacial neurological examination was carried out as described by Macleod:’ Touch was tested using a small point of cotton wool laid directly on the skin of the face and oral mucosa supplied by the trigeminal nerve. Pain and temperature were tested respectively by pin prick and by warm and cold water in tubes. The pin pricks were done using a 25 gauge hypodermic needle and the hub of the needle was used to find out if the patient could distinguish between blunt and sharp sensation. Testing of temperature sensation was carried out using ice and water at 45°C in glass tubes. Orofacial sensory examination revealed that temperature sensation was absent in the regions supplied by all the three divisions of the trigeminal nerve. The response to pin pricking and light touch were normal. Cornea1 reflex was absent bilaterally. Examination of the motor functions of the orofacial region did not reveal any abnormality.
Fig. 3 tongue.
447
-Case 2 showing full thickness ulceration of the tip ot
Case 2 A 13-month-old boy (younger brother of the girl described in Case l), was referred to the Maxillofacial Unit for extraction of the lower anterior teeth in order to relieve trauma to the tip of tongue. The finger tips in both the hands were mutiliated and had healing wound (Fig. 2). Intra oral examination revealed a full thickness loss of the tip of tongue which was ulcerated and covered with slough (Fig. 3). The midline of the lower lip was ulcerated, involving skin and mucosa with considerable loss of tissue (Fig. 4). The parents claimed that the oral ulceration was present even before the primary teeth had erupted. A joint consultation was organised with the neurologist who already had knowledge of the patient. It was not possible to carry out a full neurological examination because of the age of the patient, but based on the history
Fig. 4 - Case 2 showing ulceration.
loss of midline
of lower
lip due to
and clinical findings the consensus was that the oral ulceration was the manifestation of congenital sensory neuropathy. The patient has since been under review and has recently started exfoliating his primary teeth prematurely for no obvious reason. Teeth present during the last review:
Fig.
tip.
2 - Case 2 showing mutiliated and healing wound
on finger
An exfoliated tooth was sent for histopathological examination (/E). The morphology was reported as normal. Incremental lines, A-D junction, and dentinal tubules all appeared normal. Little cement was evident. The appear-
448
British
Journal
of Oral
and Maxillofacial
Surgery
antes did not explain loss of vitality nor the exfoliation. It was concluded that unchecked occlusal trauma may have had a role in exfoliation. Case 3 A 23-year-old woman was requested to come to the Maxillofacial Unit for an oral examination after it became known that she was affected by congenital sensory neuropathy and that she was related to the patients described earlier (Fig. 5). Examination revealed mutilating acropathy affecting the feet with loss of all terminal digit pulps. Visual acuity was 6/60 in the left eye. There was complete loss of vision in the right eye. Both the corneas were opaque due to scarring. There appeared to be considerable loss of tissue in the midline of the lower lip, similar to that in Case 2. The tongue appeared to be shortened with loss of the tip. She was partially dentate and had restricted mouth opening. Orofacial neurological examination did not reveal any abnormality. Case 4 A 35-year-old male, brother of case 3 was already under the care of the neurologist for congenital sensory neuropathy. He had a normal birth and infancy. He developed an ulcer on the tip of the tongue and lip at 3 years and subsequentally sloughed off the tip of the tongue. Cornea1 opacities had been noted at 4 months of age. In addition to pain and temperature loss in extremities he had incomplete seating. A sural nerve biopsy had been carried out in which transverse sections of the nerve showed a lack of small myelinated fibres at 4726 per mm’. The normal level is approximately 7500 per mm2.6 A fibre size frequency histogram confirmed a striking selective reduction in the smaller diameter myelinated fibres. Electron microscopy confirmed that the unmyelinated fibres were morphologically normal. He failed to attend for further examination and the present state of his dentition and oral mucosa is unknown.
DISCUSSION
Hereditary sensory neuropathies are a rare group of neurological disorders manifested from early childhood by diminished or absent sensibility to pain, touch and temperature on the extremities and varying parts of the trunk.7 These neuropathies have been 0,
01
classified according to a combination of clinical and genetic features and an association with autonomic manifestations.8 Thrush’ suggested three criteria for precise definition of congenital insensitivity to pain: i. Pain should be absent from birth. ii. The entire body should be affected. iii. All other sensory modalities should be intact or minimally impaired and tendon reflexes present. The cases reported from this single family represent one of the types of this unusual disorder. All affected individuals exhibited insensitivity to pain from childhood due to a sensory neuropathy. They all had selective loss of pain and temperature. It is thought that the overall pattern of the disease is due to either a failure of development of the neurones which give rise to small myelinated axons, or to a predominantly prenatal neuronal degeneration.4 The cases reported here were products of consanguineous marriages and hence autosomal recessive inheritance is suspected (Fig. 5). Cases 1 and 2 are part of a family of 5 children of whom the other 3 are normal. Special neurological investigations are required to diagnose congenital neuropathy.4 These include: (a) Neurophysiological investigations: sensory and motor conduction studies, needle electro-myography and somatosensory evoked potentials. All of these were normal in the members affected in this family. (b) Autonomic function investigations: sweating is examined by using a temperature sensitive dye on the ventral surface of the body. Blood pressure is recorded with the patient supine, and with a 60” tilt. Again, all of these measurements were normal. (c) Morphological investigation: sural nerve fascicular biopsy is the most important investigation needed to confirm a diagnosis of hereditary sensory neuropathy. This was carried out in one of the affected individuals, Case 4, from a site immediately posterior to the lateral malleolus under local anaesthesia. Orofacial neurological examinations are of no diagnostic significance because of the dual carriage of painful stimuli, by both Type A-delta and Type-C fibres. Type C fibres are unaffected in this disorder. Oral manifestations can help in the diagnosis of congenital sensory neuropathies. Absence of fungiform papillae on the tongue has been one of the traditional criteria for clinical diagnosis of familial dysautonomia, one of the most extensively studied of the congenital sensory neuropathies. l6 Linarelli et al7 reported an 18-month-old child with complete absence of superficial sensitivity and sensory neural structures of any kind. The tongue was mutilated and appeared smooth
without any distinguishable circumvallate and sparse fungiform papillae. None of the patients reported in our series had loss of papillae on the tongue. Hypoplasia of the teeth have been reported in two series of patients”,13 with hereditary sensory neuropathy. None of the patients reported in our series had hypoplastic teeth. Heavy scarring of the tongue was the chief oral manifestation Fig. 5 - Pedigree
showing
consanguinity.
in the series of 3 children affected by
universal insensitiveness to pain presented by Ford
Oral
and maxillofacial
and Wilkinson in 1938. lo This was thought to be caused by self mutilation, where the patients protruded and bit on the tongue during fights. Scarred deformities of the tongue have also been reported in the series of patients by Thrush,’ Brahim et ~l.,‘~ Hatzis et al . .I5 All these reports stated that the tongue deformities were self inflicted during temper tantrums or fights. Heavily scarred deformities of cheek mucosa and lips have also been reported in patients with hereditary sensory neuropathies.’ Premature loss of teeth due to no obvious reason in persons affected by congenital sensory neuropathy have been stated in many reports.9*‘3-15 Adams et al. I2 reported a 38-year-old man who became aware of gradual deterioration in sensory perception in his teens, leading to sensory loss in the extremities and the face and neck region. Brahim et al. I3 have reported 2 Equadorian brothers of Spanish descent who were the products of a consanguineous marriage. Both had congenital sensory neuropathy with anhydrosis. They did not sweat even in very hot weather. Lip, tongue and hand biting began almost immediately after eruption of the first primary teeth. Self extraction of teeth followed shortly as they continued to display an indifference to pain. Osteomyelitis developed in the mandible of the older child, associated with an undetected fracture. Both the brothers had a traumatically shortened and scarred tongue and considerable loss of tissue in the midline of the lower lip. Enamel pitting of the permanent teeth was present.
CONCLUSION Four members of a Kashmiri family with hereditary sensory neuropathy and its oral manifestations are discussed. The oral manifestations included premature loss of teeth for no obvious reason, and loss of tongue, lip and perioral tissues by sloughing leading to healing by scarring. Intra-orally, fibrous bands developed in the cheeks due to scarring and this produced decreased mouth opening. This rare disorder presents a challenge to the oral and maxillofacial surgeon due to its complexities. Lack of pain and temperature sensations leads to traumatic and self inflicted injuries. It is important to know that corrective surgery of any deformity is best delayed until the patient is old enough to prevent further mutilation. Counselling, including genetic counselling, of the patient and immediate family members should form an essential part of the management.
manifestations
of hereditary
sensory
neuropathy
449
Acknowledgements 1 wish to thank Mr D.A. Mason for his permission to report these cases and for his critical review of the manuscript. I also wish to thank Dr R.N. Hakin, Consultant Neurologist for his help in the preparation of this paper. I am also grateful to the Medical Photography department at St Luke’s Hospital, Bradford for the preparation of the illustrations.
1. Nelaton M. Affection singuliere des OS du pied. Gazzete des Hospitaux Civils et Militaires 1852; 4: 13. 2 Ogryzlo MA. A familial peripheral neuropathy of unknown etiology resembling Morovan’s disease. Can Med Assoc J 1946: 54: 547-553. 3 Jughenn H, Krticke W, Wadulla H. Zur Frage der familiaren syringomyelie. Archiv ftir Psychiatric und Nervenkrankheiten 1949; 182: 153-176. 4. Donaghy M. Hakin RN, Bamford JM et ~1. Hereditary sensory neuropathy with neurotrophic keratitis. Brain 1987; 110: 563-583. 5. Macleod J. Clinical Examination. 6th ed. Edinburgh: Churchill Livingstone, 1983: 280. 6. Jacob JM, Love S. Qualitative and quantitative morphometry of human sural nerve at different ages. Brain 1985; 108: 897-294. 7. Linarelli LG, James W, Prichard JW. Congenital sensory neuropathy. Am J Dis Child 1970; 119: 513-520. 8. Dyck PJ, Mellinger JF, Reagen TJ rt al. Not ‘indiHerence to pain’ but varieties of hereditary sensory and autonomic neuropathy. Brain 1983; 106: 373.~390. 9. Thrush DC. Congenital insensitivity to pain. Brain 1973; 96: 369%386. 10 Ford FR. Wilkins L. Congenital universal insensitiveness to pain. Bull Johns Hopkins Hospital 1938: 62: 448-466. II. Haddow JE, Shapiro SR, GalfDG. Congenital sensory neuropathv in siblings. Pediatrics 1970: 45: 65 l--655. 12. Adams Rd, ShahanrBT, Young RR. A severe pansensory familial neuropathy. Transactions of American Neurological Asst. 1973; 98: 67-69. 13. Brahim JS, Roberts MW. McDonald HD. Oral and maxillofacial complications associated with congenital sensory neuropathy with anhydrosis. J Oral Maxillofac Surg 1987; 45: 331-334. 14. Thakur LC, Chandran V, Anand KS. Congenital sensory neuropathy with anhydrosis. Indian Pediatr 1992; 29: 1046-1048. 15. Hatzis J, Gourgiotou K, Koumelas D, Makaronis G, Varelzdis A, Strarigos J. Congenital sensory neuropathy with anhydrosis. Australas .I Dermatol 1992: 33: 103- 107. 16 Axelrod FB. Pearson J. Congenital sensory neuropathies. Am J Dis Child 1987; 138: 947-954.
The Author BDS, MDS, Registrar Maxillofilcial Unit Horton Wing St. Luke’s Hospital Bradford BDS ONA. UK
FDSRCS(Eng)
Vinod-Narayanan
Correspondence
and requests
for offprints
Paper received 17 October 1994 Accepted 13 December 1994
to V. Naraydnan
Unit, St Luke’s Hospital, Bradford, UK
SUMMARY. Hereditary sensory neuropathies are a rare group of neurological disorders manifested from early childhood by diminished or absent sensibility to pain, touch and temperature. A Kashmiri family with four members affected by congenital sensory neuropathy and its oral manifestations is described. Pain and temperature sensation was lost in various parts of the body including the orofacial region resulting in mutilating acropathy, particularly of the limbs and face. Orofacial motor function was normal. Three of the four members had cornea1 opaciflcation due to scarring from keratitis. To prevent any further mutilation, any corrective surgery is best delayed until the patient is old enough. A discussion of the oral manifestations of this condition with a review of the literature is presented.
INTRODUCTION Hereditary sensory neuropathies are a rare group of neurological disorders manifested from early childhood by diminished sensibility to pain, touch and temperature. Reports were published as early as 18.52’ of familial cases of mutilating acropathy, primarily affecting the lower extremities. The recognition that these could be due to a hereditary sensory neuropathy came with the report by Ogryzlo.2 However, the first demonstration of a sensory neuropathy was provided by Jughenn et al3 when a single case came to autopsy in which loss of myelinated nerve fibres, perineural thickening and schwann cell proliferation were observed. The general neurological manifestations of congenital sensory neuropathy affecting three members of a Kashmiri family were described by Donaghy et al4 The present report describes the oral and maxillofacial manifestations of four members of the same family affected by congenital sensory neuropathy, probably of autosomal recessive inheritance and thought to be associated with loss of small myelinated nerve fibres. Fig. 1 - Case1 showingthe cornea1opacificationdue to neurotrophickeratitis.
Case reports Case I
on palpation due to what was thought to be fibrous bands. She underwent a biopsy of the cheek mucosa, which appeared to be normal histologically. Routine haematological investigations and bioprofile were carried out, the results of which were normal. The patient was reviewed 5 months later when she presented with exposure of the crestal bone due to sloughing of the mucosa in the right upper molar region. She had also exfoliated another tooth and it was thought at this stage that self mutilation was the cause of this unusual problem. She was referred to a child psychiatrist, who thought that the oral problems were due to the lack of pain perception rather than intentional self-inflicted injuries. The patient returned a year later when
A 11-year-old Kashmiri girl was referred to the Maxillofacial Unit by a Community Dental Officer with a history of ‘teeth falling out’. She was the first child born of consanguineous parents and had four younger brothers of whom the last is also described in this report. There was no history of overt trauma or gross periodontal disease. She lacked vision in both eyesdue to severecornea1scarring from neurotrophic keratitis (Fig. 1). She had ulcerated lesions of the finger tips of both hands which seemed to be healing. Trophic changes had been noted on her tongue, lip and finger tips from as early as 18 months of age. Intraoral examination revealed freshly extracted sockets in the right upper molar region. The cheek mucosa was hard 446
Oral and maxillofacial manifestations of hereditary sensory neuropathy she had developed bilateral oroantral fistulae in the molar region. Both the fistulae were surprisingly asymptomatic and neither the patient nor her parents were aware of the condition. She underwent repair of the fistulae but there was breakdown of the wound on the right side resulting in a further asymptomatic fistula. Orofacial neurological examination was carried out as described by Macleod:’ Touch was tested using a small point of cotton wool laid directly on the skin of the face and oral mucosa supplied by the trigeminal nerve. Pain and temperature were tested respectively by pin prick and by warm and cold water in tubes. The pin pricks were done using a 25 gauge hypodermic needle and the hub of the needle was used to find out if the patient could distinguish between blunt and sharp sensation. Testing of temperature sensation was carried out using ice and water at 45°C in glass tubes. Orofacial sensory examination revealed that temperature sensation was absent in the regions supplied by all the three divisions of the trigeminal nerve. The response to pin pricking and light touch were normal. Cornea1 reflex was absent bilaterally. Examination of the motor functions of the orofacial region did not reveal any abnormality.
Fig. 3 tongue.
447
-Case 2 showing full thickness ulceration of the tip ot
Case 2 A 13-month-old boy (younger brother of the girl described in Case l), was referred to the Maxillofacial Unit for extraction of the lower anterior teeth in order to relieve trauma to the tip of tongue. The finger tips in both the hands were mutiliated and had healing wound (Fig. 2). Intra oral examination revealed a full thickness loss of the tip of tongue which was ulcerated and covered with slough (Fig. 3). The midline of the lower lip was ulcerated, involving skin and mucosa with considerable loss of tissue (Fig. 4). The parents claimed that the oral ulceration was present even before the primary teeth had erupted. A joint consultation was organised with the neurologist who already had knowledge of the patient. It was not possible to carry out a full neurological examination because of the age of the patient, but based on the history
Fig. 4 - Case 2 showing ulceration.
loss of midline
of lower
lip due to
and clinical findings the consensus was that the oral ulceration was the manifestation of congenital sensory neuropathy. The patient has since been under review and has recently started exfoliating his primary teeth prematurely for no obvious reason. Teeth present during the last review:
Fig.
tip.
2 - Case 2 showing mutiliated and healing wound
on finger
An exfoliated tooth was sent for histopathological examination (/E). The morphology was reported as normal. Incremental lines, A-D junction, and dentinal tubules all appeared normal. Little cement was evident. The appear-
448
British
Journal
of Oral
and Maxillofacial
Surgery
antes did not explain loss of vitality nor the exfoliation. It was concluded that unchecked occlusal trauma may have had a role in exfoliation. Case 3 A 23-year-old woman was requested to come to the Maxillofacial Unit for an oral examination after it became known that she was affected by congenital sensory neuropathy and that she was related to the patients described earlier (Fig. 5). Examination revealed mutilating acropathy affecting the feet with loss of all terminal digit pulps. Visual acuity was 6/60 in the left eye. There was complete loss of vision in the right eye. Both the corneas were opaque due to scarring. There appeared to be considerable loss of tissue in the midline of the lower lip, similar to that in Case 2. The tongue appeared to be shortened with loss of the tip. She was partially dentate and had restricted mouth opening. Orofacial neurological examination did not reveal any abnormality. Case 4 A 35-year-old male, brother of case 3 was already under the care of the neurologist for congenital sensory neuropathy. He had a normal birth and infancy. He developed an ulcer on the tip of the tongue and lip at 3 years and subsequentally sloughed off the tip of the tongue. Cornea1 opacities had been noted at 4 months of age. In addition to pain and temperature loss in extremities he had incomplete seating. A sural nerve biopsy had been carried out in which transverse sections of the nerve showed a lack of small myelinated fibres at 4726 per mm’. The normal level is approximately 7500 per mm2.6 A fibre size frequency histogram confirmed a striking selective reduction in the smaller diameter myelinated fibres. Electron microscopy confirmed that the unmyelinated fibres were morphologically normal. He failed to attend for further examination and the present state of his dentition and oral mucosa is unknown.
DISCUSSION
Hereditary sensory neuropathies are a rare group of neurological disorders manifested from early childhood by diminished or absent sensibility to pain, touch and temperature on the extremities and varying parts of the trunk.7 These neuropathies have been 0,
01
classified according to a combination of clinical and genetic features and an association with autonomic manifestations.8 Thrush’ suggested three criteria for precise definition of congenital insensitivity to pain: i. Pain should be absent from birth. ii. The entire body should be affected. iii. All other sensory modalities should be intact or minimally impaired and tendon reflexes present. The cases reported from this single family represent one of the types of this unusual disorder. All affected individuals exhibited insensitivity to pain from childhood due to a sensory neuropathy. They all had selective loss of pain and temperature. It is thought that the overall pattern of the disease is due to either a failure of development of the neurones which give rise to small myelinated axons, or to a predominantly prenatal neuronal degeneration.4 The cases reported here were products of consanguineous marriages and hence autosomal recessive inheritance is suspected (Fig. 5). Cases 1 and 2 are part of a family of 5 children of whom the other 3 are normal. Special neurological investigations are required to diagnose congenital neuropathy.4 These include: (a) Neurophysiological investigations: sensory and motor conduction studies, needle electro-myography and somatosensory evoked potentials. All of these were normal in the members affected in this family. (b) Autonomic function investigations: sweating is examined by using a temperature sensitive dye on the ventral surface of the body. Blood pressure is recorded with the patient supine, and with a 60” tilt. Again, all of these measurements were normal. (c) Morphological investigation: sural nerve fascicular biopsy is the most important investigation needed to confirm a diagnosis of hereditary sensory neuropathy. This was carried out in one of the affected individuals, Case 4, from a site immediately posterior to the lateral malleolus under local anaesthesia. Orofacial neurological examinations are of no diagnostic significance because of the dual carriage of painful stimuli, by both Type A-delta and Type-C fibres. Type C fibres are unaffected in this disorder. Oral manifestations can help in the diagnosis of congenital sensory neuropathies. Absence of fungiform papillae on the tongue has been one of the traditional criteria for clinical diagnosis of familial dysautonomia, one of the most extensively studied of the congenital sensory neuropathies. l6 Linarelli et al7 reported an 18-month-old child with complete absence of superficial sensitivity and sensory neural structures of any kind. The tongue was mutilated and appeared smooth
without any distinguishable circumvallate and sparse fungiform papillae. None of the patients reported in our series had loss of papillae on the tongue. Hypoplasia of the teeth have been reported in two series of patients”,13 with hereditary sensory neuropathy. None of the patients reported in our series had hypoplastic teeth. Heavy scarring of the tongue was the chief oral manifestation Fig. 5 - Pedigree
showing
consanguinity.
in the series of 3 children affected by
universal insensitiveness to pain presented by Ford
Oral
and maxillofacial
and Wilkinson in 1938. lo This was thought to be caused by self mutilation, where the patients protruded and bit on the tongue during fights. Scarred deformities of the tongue have also been reported in the series of patients by Thrush,’ Brahim et ~l.,‘~ Hatzis et al . .I5 All these reports stated that the tongue deformities were self inflicted during temper tantrums or fights. Heavily scarred deformities of cheek mucosa and lips have also been reported in patients with hereditary sensory neuropathies.’ Premature loss of teeth due to no obvious reason in persons affected by congenital sensory neuropathy have been stated in many reports.9*‘3-15 Adams et al. I2 reported a 38-year-old man who became aware of gradual deterioration in sensory perception in his teens, leading to sensory loss in the extremities and the face and neck region. Brahim et al. I3 have reported 2 Equadorian brothers of Spanish descent who were the products of a consanguineous marriage. Both had congenital sensory neuropathy with anhydrosis. They did not sweat even in very hot weather. Lip, tongue and hand biting began almost immediately after eruption of the first primary teeth. Self extraction of teeth followed shortly as they continued to display an indifference to pain. Osteomyelitis developed in the mandible of the older child, associated with an undetected fracture. Both the brothers had a traumatically shortened and scarred tongue and considerable loss of tissue in the midline of the lower lip. Enamel pitting of the permanent teeth was present.
CONCLUSION Four members of a Kashmiri family with hereditary sensory neuropathy and its oral manifestations are discussed. The oral manifestations included premature loss of teeth for no obvious reason, and loss of tongue, lip and perioral tissues by sloughing leading to healing by scarring. Intra-orally, fibrous bands developed in the cheeks due to scarring and this produced decreased mouth opening. This rare disorder presents a challenge to the oral and maxillofacial surgeon due to its complexities. Lack of pain and temperature sensations leads to traumatic and self inflicted injuries. It is important to know that corrective surgery of any deformity is best delayed until the patient is old enough to prevent further mutilation. Counselling, including genetic counselling, of the patient and immediate family members should form an essential part of the management.
manifestations
of hereditary
sensory
neuropathy
449
Acknowledgements 1 wish to thank Mr D.A. Mason for his permission to report these cases and for his critical review of the manuscript. I also wish to thank Dr R.N. Hakin, Consultant Neurologist for his help in the preparation of this paper. I am also grateful to the Medical Photography department at St Luke’s Hospital, Bradford for the preparation of the illustrations.
1. Nelaton M. Affection singuliere des OS du pied. Gazzete des Hospitaux Civils et Militaires 1852; 4: 13. 2 Ogryzlo MA. A familial peripheral neuropathy of unknown etiology resembling Morovan’s disease. Can Med Assoc J 1946: 54: 547-553. 3 Jughenn H, Krticke W, Wadulla H. Zur Frage der familiaren syringomyelie. Archiv ftir Psychiatric und Nervenkrankheiten 1949; 182: 153-176. 4. Donaghy M. Hakin RN, Bamford JM et ~1. Hereditary sensory neuropathy with neurotrophic keratitis. Brain 1987; 110: 563-583. 5. Macleod J. Clinical Examination. 6th ed. Edinburgh: Churchill Livingstone, 1983: 280. 6. Jacob JM, Love S. Qualitative and quantitative morphometry of human sural nerve at different ages. Brain 1985; 108: 897-294. 7. Linarelli LG, James W, Prichard JW. Congenital sensory neuropathy. Am J Dis Child 1970; 119: 513-520. 8. Dyck PJ, Mellinger JF, Reagen TJ rt al. Not ‘indiHerence to pain’ but varieties of hereditary sensory and autonomic neuropathy. Brain 1983; 106: 373.~390. 9. Thrush DC. Congenital insensitivity to pain. Brain 1973; 96: 369%386. 10 Ford FR. Wilkins L. Congenital universal insensitiveness to pain. Bull Johns Hopkins Hospital 1938: 62: 448-466. II. Haddow JE, Shapiro SR, GalfDG. Congenital sensory neuropathv in siblings. Pediatrics 1970: 45: 65 l--655. 12. Adams Rd, ShahanrBT, Young RR. A severe pansensory familial neuropathy. Transactions of American Neurological Asst. 1973; 98: 67-69. 13. Brahim JS, Roberts MW. McDonald HD. Oral and maxillofacial complications associated with congenital sensory neuropathy with anhydrosis. J Oral Maxillofac Surg 1987; 45: 331-334. 14. Thakur LC, Chandran V, Anand KS. Congenital sensory neuropathy with anhydrosis. Indian Pediatr 1992; 29: 1046-1048. 15. Hatzis J, Gourgiotou K, Koumelas D, Makaronis G, Varelzdis A, Strarigos J. Congenital sensory neuropathy with anhydrosis. Australas .I Dermatol 1992: 33: 103- 107. 16 Axelrod FB. Pearson J. Congenital sensory neuropathies. Am J Dis Child 1987; 138: 947-954.
The Author BDS, MDS, Registrar Maxillofilcial Unit Horton Wing St. Luke’s Hospital Bradford BDS ONA. UK
FDSRCS(Eng)
Vinod-Narayanan
Correspondence
and requests
for offprints
Paper received 17 October 1994 Accepted 13 December 1994
to V. Naraydnan