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
| Autor: | Theodosia Bartzela, Luitgard Graul-Neumann, Christian Finke, Karim Elhennawy, Paul-Georg Jost-Brinkmann, Seif Reda |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Male
Pathology medicine.medical_specialty Orthotic Devices Time Factors Adolescent Pain Insensitivity Congenital DNA Mutational Analysis lcsh:Medicine Nerve Tissue Proteins Disease Dental Caries medicine.disease_cause Bone Infection 03 medical and health sciences Tooth Loss 0302 clinical medicine PRDM12 gene Surgical oncology Hereditary sensory and autonomic neuropathy type I Hereditary sensory and autonomic neuropathy Case report medicine Tooth loss Humans Genetic Predisposition to Disease Oral manifestations Hereditary Sensory and Autonomic Neuropathies Mobility Limitation Mutation business.industry lcsh:R Mouth Mucosa Infant 030206 dentistry General Medicine medicine.disease Dermatology Orthotic device Self Mutilation Denture Partial Fixed Dental HSAN-VIII medicine.symptom business Carrier Proteins 030217 neurology & neurosurgery |
| Zdroj: | Journal of Medical Case Reports, Vol 11, Iss 1, Pp 1-11 (2017) Journal of Medical Case Reports |
| ISSN: | 1752-1947 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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