From Self-Mutilation to Genetic Diagnosis: A Case Report of Hereditary Sensory and Autonomic Neuropathy Type VIII Illuminating the Role of a Rare PRDM12 Mutation.

BACKGROUND: Hereditary Sensory and Autonomic Neuropathy Type VIII (HSAN-VIII) is a rare autosomal recessive disorder resulting from homozygous mutations in the PRDM12 gene. This gene encodes a protein critical for the development of sensory neurons responsible for nociception. This case report delineates the clinical presentation, with a particular focus on the oral manifestations and subsequent therapeutic interventions in an affected patient.

CASE PRESENTATION: We report the oral manifestations and dental management of a 10-month-old female diagnosed with HSAN-VIII. Genetic analysis via whole-exome sequencing confirmed a homozygous mutation in the PRDM12 gene. The patient's phenotype was characterized by congenital insensitivity to pain and thermal stimuli, self-mutilating behaviors, autonomic dysfunction manifesting as hypohidrosis and alacrima, absent corneal reflexes, and recurrent episodes of dermal and osteomyelitic infections. Significant orofacial findings included extensive soft tissue injuries such as almost amputated tip portion of the tongue. A multidisciplinary management strategy was implemented for comprehensive care.

CONCLUSIONS: The profound scarcity of clinical data on HSAN-VIII frequently leads to diagnostic delays, which critically impedes the timely implementation of preventative strategies against the disease's myriad complications. The effective management of these patients necessitates a coordinated, interdisciplinary approach involving specialized medical and dental teams, as well as the establishment of standardized treatment protocols. Significant knowledge gaps persist regarding the long-term management of HSAN-VIII, underscoring the imperative for further international collaborative research.