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Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature.
J Med Case Rep 2017; 11(1):233JM

Abstract

BACKGROUND

Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. Chen et al. recently identified the causative gene and characterized biallelic mutations in the PR domain-containing protein 12 gene, which plays a role in the development of pain-sensing nerve cells. Our patient's family was included in Chen and colleagues' study. We performed a literature review of the PubMed library (January 1985 to December 2016) on hereditary sensory and autonomic neuropathy type I to VIII genetic disorders and their orofacial manifestations. This case report is the first to describe the oral manifestations, and their treatment, of the recently discovered hereditary sensory and autonomic neuropathy type VIII in the medical and dental literature.

CASE PRESENTATION

We report on the oral manifestations and dental management of an 8-month-old white boy with hereditary sensory and autonomic neuropathy-VIII over a period of 16 years. Our patient was homozygous for a mutation of PR domain-containing protein 12 gene and was characterized by insensitivity to pain and thermal stimuli, self-mutilation behavior, reduced sweat and tear production, absence of corneal reflexes, and multiple skin and bone infections. Oral manifestations included premature loss of teeth, associated with dental traumata and self-mutilation, severe soft tissue injuries, dental caries and submucosal abscesses, hypomineralization of primary teeth, and mandibular osteomyelitis.

CONCLUSIONS

The lack of scientific knowledge on hereditary sensory and autonomic neuropathy due to the rarity of the disease often results in a delay in diagnosis, which is of substantial importance for the prevention of many complications and symptoms. Interdisciplinary work of specialized medical and dental teams and development of a standardized treatment protocols are essential for the management of the disease. There are many knowledge gaps concerning the management of patients with hereditary sensory and autonomic neuropathy-VIII, therefore more research on an international basis is needed.

Authors+Show Affiliations

Center for Dental and Craniofacial Sciences, Department of Orthodontics, Dentofacial Orthopedics and Pedodontics, Charité - Universitätsmedizin Berlin, Aβmannshauser Str. 4-6, 14197, Berlin, Germany.Center for Dental and Craniofacial Sciences, Department of Orthodontics, Dentofacial Orthopedics and Pedodontics, Charité - Universitätsmedizin Berlin, Aβmannshauser Str. 4-6, 14197, Berlin, Germany.Center for Dental and Craniofacial Sciences, Department of Orthodontics, Dentofacial Orthopedics and Pedodontics, Charité - Universitätsmedizin Berlin, Aβmannshauser Str. 4-6, 14197, Berlin, Germany.Ambulantes Gesundheitszentrum, Campus Virchow Clinic, Charité - Universitätsmedizin Berlin, Berlin, Germany. Charité Campus Virchow, Department of Human Genetics, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany.Center for Dental and Craniofacial Sciences, Department of Orthodontics, Dentofacial Orthopedics and Pedodontics, Charité - Universitätsmedizin Berlin, Aβmannshauser Str. 4-6, 14197, Berlin, Germany.Center for Dental and Craniofacial Sciences, Department of Orthodontics, Dentofacial Orthopedics and Pedodontics, Charité - Universitätsmedizin Berlin, Aβmannshauser Str. 4-6, 14197, Berlin, Germany. theodosia.bartzela@charite.de.

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

28807049

Citation

Elhennawy, Karim, et al. "Oral Manifestations, Dental Management, and a Rare Homozygous Mutation of the PRDM12 Gene in a Boy With Hereditary Sensory and Autonomic Neuropathy Type VIII: a Case Report and Review of the Literature." Journal of Medical Case Reports, vol. 11, no. 1, 2017, p. 233.
Elhennawy K, Reda S, Finke C, et al. Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature. J Med Case Rep. 2017;11(1):233.
Elhennawy, K., Reda, S., Finke, C., Graul-Neumann, L., Jost-Brinkmann, P. G., & Bartzela, T. (2017). Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature. Journal of Medical Case Reports, 11(1), p. 233. doi:10.1186/s13256-017-1387-z.
Elhennawy K, et al. Oral Manifestations, Dental Management, and a Rare Homozygous Mutation of the PRDM12 Gene in a Boy With Hereditary Sensory and Autonomic Neuropathy Type VIII: a Case Report and Review of the Literature. J Med Case Rep. 2017 Aug 15;11(1):233. PubMed PMID: 28807049.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature. AU - Elhennawy,Karim, AU - Reda,Seif, AU - Finke,Christian, AU - Graul-Neumann,Luitgard, AU - Jost-Brinkmann,Paul-Georg, AU - Bartzela,Theodosia, Y1 - 2017/08/15/ PY - 2017/03/01/received PY - 2017/07/11/accepted PY - 2017/8/16/entrez PY - 2017/8/16/pubmed PY - 2018/7/11/medline KW - Case report KW - Dental KW - HSAN-VIII KW - Hereditary sensory and autonomic neuropathy KW - Oral manifestations KW - PRDM12 gene SP - 233 EP - 233 JF - Journal of medical case reports JO - J Med Case Rep VL - 11 IS - 1 N2 - BACKGROUND: Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. Chen et al. recently identified the causative gene and characterized biallelic mutations in the PR domain-containing protein 12 gene, which plays a role in the development of pain-sensing nerve cells. Our patient's family was included in Chen and colleagues' study. We performed a literature review of the PubMed library (January 1985 to December 2016) on hereditary sensory and autonomic neuropathy type I to VIII genetic disorders and their orofacial manifestations. This case report is the first to describe the oral manifestations, and their treatment, of the recently discovered hereditary sensory and autonomic neuropathy type VIII in the medical and dental literature. CASE PRESENTATION: We report on the oral manifestations and dental management of an 8-month-old white boy with hereditary sensory and autonomic neuropathy-VIII over a period of 16 years. Our patient was homozygous for a mutation of PR domain-containing protein 12 gene and was characterized by insensitivity to pain and thermal stimuli, self-mutilation behavior, reduced sweat and tear production, absence of corneal reflexes, and multiple skin and bone infections. Oral manifestations included premature loss of teeth, associated with dental traumata and self-mutilation, severe soft tissue injuries, dental caries and submucosal abscesses, hypomineralization of primary teeth, and mandibular osteomyelitis. CONCLUSIONS: The lack of scientific knowledge on hereditary sensory and autonomic neuropathy due to the rarity of the disease often results in a delay in diagnosis, which is of substantial importance for the prevention of many complications and symptoms. Interdisciplinary work of specialized medical and dental teams and development of a standardized treatment protocols are essential for the management of the disease. There are many knowledge gaps concerning the management of patients with hereditary sensory and autonomic neuropathy-VIII, therefore more research on an international basis is needed. SN - 1752-1947 UR - https://www.unboundmedicine.com/medline/citation/28807049/Oral_manifestations_dental_management_and_a_rare_homozygous_mutation_of_the_PRDM12_gene_in_a_boy_with_hereditary_sensory_and_autonomic_neuropathy_type_VIII:_a_case_report_and_review_of_the_literature_ L2 - https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-017-1387-z DB - PRIME DP - Unbound Medicine ER -