Year: 2025
Type: article
Study design: Case Report
Abstract: Congenital insensitivity to pain syndrome (CIP) is a rare hereditary sensory and autonomic neuropathy (HSAN) characterized by impaired pain perception, recurrent injuries, chronic infections, and varying degrees of autonomic involvement. Among its subtypes, HSAN-V is distinguished by preserved cognition and sweating function but with a complete absence of pain sensation and progressive joint degeneration. We present the case of a 17-year-old female with suspected HSAN-V who developed orthopedic complications, including a chronic foot ulcer and an infected finger wound. Imaging revealed soft tissue swelling of the finger, necessitating surgical amputation, followed by a second procedure for wound closure and tendon sheath debridement. Postoperative cultures guided antibiotic therapy, and the patient recovered without complications. Genetic testing has not yet established a definitive diagnosis. This case highlights the orthopedic challenges associated with HSAN-V and underscores the importance of early recognition, multidisciplinary management, and patient-family education in optimizing outcomes and quality of life.
Source: Cureus
DOI: 10.7759/cureus.91496
Authors: Robert M Paul, Amber M Parnell, Grace E Corrier, Marina Jeffery
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4413924429