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Hereditary sensory and autonomic neuropathy type V: Report of a rare case.

Kalaskar R, Kalaskar A - Contemp Clin Dent (2015 Jan-Mar)

Bottom Line: Self-mutilation injury involving the teeth, lips, tongue, ears, eyes, nose, and fingers are invariable feature of this disorder.The purpose of this paper was to discuss the diagnosis and oral management of 18-month-old girl with HSAN type V, having typical oral manifestation of bitten tongue and auto-extraction of primary teeth.Modified bite guard was given to the patient to prevent further self-mutilating injuries to the tongue.

View Article: PubMed Central - PubMed

Affiliation: Department of Pedodontics, Government Dental College and Hospital, Nagpur, Maharashtra, India.

ABSTRACT
Hereditary sensory and autonomic neuropathy (HSAN) type V is a rare inherited disease caused by a mutation in the neurotrophic tyrosine kinase receptor, type 1 gene located on chromosome 1 (1q21-q22). It is characterized by pain insensitivity, partial anhydrosis without mental retardation and unimpaired touch and pressure sensitivity. Self-mutilation injury involving the teeth, lips, tongue, ears, eyes, nose, and fingers are invariable feature of this disorder. The purpose of this paper was to discuss the diagnosis and oral management of 18-month-old girl with HSAN type V, having typical oral manifestation of bitten tongue and auto-extraction of primary teeth. Modified bite guard was given to the patient to prevent further self-mutilating injuries to the tongue.

No MeSH data available.


Related in: MedlinePlus

(a) Extraoral photograph of bite guard. (b) Intraoral photograph showing modified bite guard
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Figure 4: (a) Extraoral photograph of bite guard. (b) Intraoral photograph showing modified bite guard

Mentions: An 18-month-old girl, born to a healthy nonconsanguineous couple, was brought to our department for the management of self-mutilated biting of the tongue. She had normal milestones since birth. At the age of 7 months, her parents first notice that she did not respond to painful stimuli like injection of vaccines or any other accidental trauma. She had a history of heat intolerance, reduced sweating and fewer tears while crying. She had no history of recurrent fever, poor vision, seizure, skin rash, and bleeding manifestation. Parents gave history of biting of the tongue (since the eruption of teeth), grinding of teeth and repeated attempts to remove the teeth with fingers. Her taste sensation was normal. Pregnancy and birth were uneventful. There was no family history of neurologic or metabolic disorders, and no other member of their family was diagnosed with HSAN. On general examination, no signs of pallor, cyanosis, and icterus were observed. Hematological and biochemical investigations including serum uric acid levels were normal. Intraoral examination revealed self-mutilated features such as bitten tongue (resection of anterior one third of the tongue), ulceration on the ventral surface of tongue and auto-extraction of primary mandibular right and left central and lateral incisors and left canine. Primary maxillary right and left canines were un-erupted [Figures 1 and 2]. Cutaneous examination did not reveal generalized xerosis over ankles and dorsa of feet, thickening of palms, and fissuring of soles [Figure 3]. Sensory examination showed complete loss of pain and temperature sensations, but fine touch and vibration were preserved. Tendon reflexes and plantar responses were normal. Histological examination of the skin showed normal epidermal and dermal structures, including presence of normal sweat glands. Due to lack of availability of genetic tests, mutational study could not be done. Also, patient's parents were not ready for nerve biopsy because of invasiveness and nonfeasibility of the procedure. Based on the clinical findings, degree of both sensory and autonomic dysfunction, biochemical evaluations and skin histological features the probable diagnosis of HSAN type V was made. The parents were explained the importance of the remaining tongue and various treatment options. Patient parent did not agree for full mouth extraction of teeth because of the psychological and functional implications. Then, it was decided to give bite guard to prevent self-mutilated trauma to the tongue. Maxillary and mandibular jaw impressions were recorded in alginate and casts were made in die stone. Bite guard was prepared from biocryl X sheet, (Grate Lakes Orthodontics, Tonawanda, NY, USA) using Ministar pressure forming machine (Grate Lakes Orthodontics, Tonawanda, NY, USA). Bite guard was modified in such a way that it covered the palatal surface [Figure 4a and b].


Hereditary sensory and autonomic neuropathy type V: Report of a rare case.

Kalaskar R, Kalaskar A - Contemp Clin Dent (2015 Jan-Mar)

(a) Extraoral photograph of bite guard. (b) Intraoral photograph showing modified bite guard
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4319325&req=5

Figure 4: (a) Extraoral photograph of bite guard. (b) Intraoral photograph showing modified bite guard
Mentions: An 18-month-old girl, born to a healthy nonconsanguineous couple, was brought to our department for the management of self-mutilated biting of the tongue. She had normal milestones since birth. At the age of 7 months, her parents first notice that she did not respond to painful stimuli like injection of vaccines or any other accidental trauma. She had a history of heat intolerance, reduced sweating and fewer tears while crying. She had no history of recurrent fever, poor vision, seizure, skin rash, and bleeding manifestation. Parents gave history of biting of the tongue (since the eruption of teeth), grinding of teeth and repeated attempts to remove the teeth with fingers. Her taste sensation was normal. Pregnancy and birth were uneventful. There was no family history of neurologic or metabolic disorders, and no other member of their family was diagnosed with HSAN. On general examination, no signs of pallor, cyanosis, and icterus were observed. Hematological and biochemical investigations including serum uric acid levels were normal. Intraoral examination revealed self-mutilated features such as bitten tongue (resection of anterior one third of the tongue), ulceration on the ventral surface of tongue and auto-extraction of primary mandibular right and left central and lateral incisors and left canine. Primary maxillary right and left canines were un-erupted [Figures 1 and 2]. Cutaneous examination did not reveal generalized xerosis over ankles and dorsa of feet, thickening of palms, and fissuring of soles [Figure 3]. Sensory examination showed complete loss of pain and temperature sensations, but fine touch and vibration were preserved. Tendon reflexes and plantar responses were normal. Histological examination of the skin showed normal epidermal and dermal structures, including presence of normal sweat glands. Due to lack of availability of genetic tests, mutational study could not be done. Also, patient's parents were not ready for nerve biopsy because of invasiveness and nonfeasibility of the procedure. Based on the clinical findings, degree of both sensory and autonomic dysfunction, biochemical evaluations and skin histological features the probable diagnosis of HSAN type V was made. The parents were explained the importance of the remaining tongue and various treatment options. Patient parent did not agree for full mouth extraction of teeth because of the psychological and functional implications. Then, it was decided to give bite guard to prevent self-mutilated trauma to the tongue. Maxillary and mandibular jaw impressions were recorded in alginate and casts were made in die stone. Bite guard was prepared from biocryl X sheet, (Grate Lakes Orthodontics, Tonawanda, NY, USA) using Ministar pressure forming machine (Grate Lakes Orthodontics, Tonawanda, NY, USA). Bite guard was modified in such a way that it covered the palatal surface [Figure 4a and b].

Bottom Line: Self-mutilation injury involving the teeth, lips, tongue, ears, eyes, nose, and fingers are invariable feature of this disorder.The purpose of this paper was to discuss the diagnosis and oral management of 18-month-old girl with HSAN type V, having typical oral manifestation of bitten tongue and auto-extraction of primary teeth.Modified bite guard was given to the patient to prevent further self-mutilating injuries to the tongue.

View Article: PubMed Central - PubMed

Affiliation: Department of Pedodontics, Government Dental College and Hospital, Nagpur, Maharashtra, India.

ABSTRACT
Hereditary sensory and autonomic neuropathy (HSAN) type V is a rare inherited disease caused by a mutation in the neurotrophic tyrosine kinase receptor, type 1 gene located on chromosome 1 (1q21-q22). It is characterized by pain insensitivity, partial anhydrosis without mental retardation and unimpaired touch and pressure sensitivity. Self-mutilation injury involving the teeth, lips, tongue, ears, eyes, nose, and fingers are invariable feature of this disorder. The purpose of this paper was to discuss the diagnosis and oral management of 18-month-old girl with HSAN type V, having typical oral manifestation of bitten tongue and auto-extraction of primary teeth. Modified bite guard was given to the patient to prevent further self-mutilating injuries to the tongue.

No MeSH data available.


Related in: MedlinePlus