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.

Abstract excerpt

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...

Topics

• Female
• Humans
• Infant
• Hereditary Sensory and Autonomic Neuropathies
• Mutation
• Self Mutilation