Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation

Congenital insensitivity to pain with hyperhidrosis and absence of cutaneous sensory innervation is an extremely rare hereditary sensory and autonomic neuropathy (HSAN) characterized by a complete inability to perceive pain from birth, excessive sweating (hyperhidrosis), and a documented absence of sensory nerve fibers in the skin. This condition is classified among the hereditary sensory and autonomic neuropathies and is sometimes considered a distinct subtype within the HSAN spectrum. It primarily affects the peripheral nervous system, specifically the small unmyelinated and thinly myelinated sensory nerve fibers responsible for pain and temperature sensation in the skin. Patients typically present in infancy or early childhood with painless injuries, including burns, fractures, and self-mutilation injuries to the tongue, lips, and fingers, due to the complete absence of protective pain sensation. Hyperhidrosis (excessive sweating) distinguishes this condition from some other forms of congenital insensitivity to pain. Skin biopsy reveals a striking absence of cutaneous sensory innervation, confirming the peripheral nerve fiber deficit. Other sensory modalities such as touch and proprioception may be variably affected. Intellectual development is generally normal. There is currently no curative treatment for this condition. Management is supportive and focuses on injury prevention, careful monitoring of the skin and extremities, dental care to prevent self-inflicted oral injuries, orthopedic surveillance for unrecognized fractures, and education of patients and caregivers about the risks associated with the inability to feel pain. Treatment of hyperhidrosis may also be addressed symptomatically. A multidisciplinary approach involving neurology, orthopedics, dermatology, and pain management specialists is recommended.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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