Uncovering oral and maxillofacial clues in congenital insensitivity to pain with anhidrosis: what can sibling cases teach us?

揭示先天性痛觉缺失伴无汗症的口腔颌面部线索:同胞病例能给我们带来什么启示?

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Abstract

BACKGROUND: Congenital Insensitivity to Pain with Anhidrosis (CIPA) is an extremely rare congenital disorder characterized by severe clinical and oral manifestations. The aim of this case report is to present the dental and systemic findings in two adult siblings diagnosed with CIPA, highlighting their shared genetic condition yet differing oral manifestations. This report is notable for the patients’ advanced age and provides comparative insight into variations in dentition, periodontal status, and cooperation during dental care. These features highlight the importance of long-term follow-up in CIPA patients by shedding light on the oral and systemic changes that may emerge with advancing age. CASE PRESENTATION: A 20-year-old male and his 22-year-old sister, both diagnosed with CIPA, presented to the Faculty of Dentistry at Niğde Ömer Halisdemir University for dental examination. The male patient showed plaque and calculus buildup, moderate gingival inflammation with bleeding, widespread staining from past iron use, and a tongue scar likely due to self-injury. He had a dolichofacial profile and missing mandibular central incisor (#31). Despite no previous dental treatment, he cooperated well and full-mouth scaling was completed. The female patient had more severe oral issues, including heavy plaque and calculus, generalized gingival recession, poor gum health, and several missing teeth. She had a brachycephalic facial pattern and restricted mouth opening due to scarring. Radiographs showed missing upper and lower central incisors (#21 and #31). Due to limited cooperation, only anterior scaling was done, and further treatment was advised under sedation or general anesthesia. Systemically, both siblings had typical CIPA findings: insensitivity to pain and temperature, recurrent high fever due to lack of sweating, joint deformities, and fingertip amputations. They also had moderate-to-severe intellectual disability, were unable to walk independently, and needed full-time caregiver support. CONCLUSIONS: This case emphasizes the significance of oral and systemic alterations that can manifest in CIPA patients during adulthood. The presence of notable dental anomalies in the absence of multiple carious lesions, oral ulcerations, or missing permanent teeth distinguishes these adult cases from most CIPA reports typically documented in childhood. Additionally, a certain level of treatment compliance particularly in the male patient further emphasizes the uniqueness of this report. The findings underscore the necessity for long-term monitoring and highlight the importance of individualized dental care and follow-up strategies in managing CIPA patients.

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