The curse of painlessness: unveiling a rare case of HSAN type VIII mutation

Abberaamee S*, Sujatha G P, Ashok L, Shambulingappa P, Pramod G V

Department of Oral Medicine and Radiology, Bapuji Dental College and Hospital, Davangere, Karnataka, India

Refer this article

Abberaamee S, Sujatha G P, Ashok L, Shambulingappa P, Pramod G V, 2026. The curse of painlessness: unveiling a rare case of HSAN type VIII mutation. Journal of medical pharmaceutical and allied sciences, V 15, I 5, Pages 13 – 19. Doi: https://doi.org/10.55522/jmpas.V15I5.7106.

ABSTRACT

Hereditary Sensory and Autonomic Neuropathy Type VIII (HSAN VIII) is an ultra-rare autosomal recessive neurogenetic disorder, caused by mutations in the PRDM12 gene, which leads to congenital insensitivity to pain. Pain perception is absent and affected individuals are prone to repeated trauma, self-mutilation, chronic infections, delayed wound healing and severe oral and maxillofacial complications. Oral manifestations can be important diagnostic clues and underline the role of dental professionals in the early recognition and prevention of complications.

Keywords:

HSAN VIII, PRDM12 mutation, Congenital insensitivity to pain, Oral manifestation, Mandibular osteomyelitis, Hereditary sensory and autonomic neuropathy.

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