Hereditary Sensory and Autonomic Neuropathy Presenting With Mutilating Trophic Ulcers

Area of Science:

• Neurology
• Dermatology
• Genetics

Background:

• Hereditary Sensory and Autonomic Neuropathy (HSAN) is a group of rare genetic disorders affecting peripheral nerves.
• HSAN Type 2 is characterized by severe sensory and autonomic dysfunction, leading to insensitivity to pain and temperature, and subsequent injuries.
• Consanguineous marriages can increase the risk of autosomal recessive genetic disorders like HSAN.

Observation:

• Two siblings, a 19-year-old female and an 18-year-old male, presented with a history of recurrent, slow-healing skin ulcers on their hands and feet since early childhood.
• Clinical examination revealed distal sensory loss, particularly affecting pain and temperature sensation.
• The ulcers led to significant deformities due to their chronic and destructive nature.

Findings:

• Diagnosis of Hereditary Sensory and Autonomic Neuropathy of ulceromutilating type (Type 2) was confirmed through clinical presentation, nerve conduction studies, and neuropathological examination.
• The siblings' condition, though clinically distinct, was diagnosed late in adulthood due to the slow progression and lack of early clinical suspicion.
• The underlying cause was identified as a genetic defect leading to neuropathy.

Implications:

• This case highlights the importance of recognizing the clinical features of HSAN Type 2, even in its early stages, to ensure timely diagnosis.
• Early diagnosis and management can potentially prevent the severe deformities and complications associated with trophic ulcers.
• Increased awareness among clinicians about rare neuropathies like HSAN Type 2 is essential for improving patient outcomes.