Clinical Characteristics of Lipoid Proteinosis and Long-Term Outcomes of Microlaryngosurgery.

Abstract

To analyze the clinical characteristics of patients with lipoid proteinosis and evaluate the long-term efficacy of microsurgical treatment for laryngeal lesions. This retrospective cohort study included 46 patients diagnosed with lipoid proteinosis following microsurgical resection of laryngeal lesions under general anesthesia. Clinical, genetic, and voice quality assessments (GRBAS, VHI-30, acoustic/aerodynamic parameters, laryngoscopic features) were collected preoperatively and at 2, 6, 12, and 24 months postoperatively. All 46 patients developed hoarseness before age 5, with 58.7% presenting at birth. Laryngoscopy revealed diffuse bilateral yellowish vocal fold deposits with markedly reduced mucosal waves in all patients; arytenoid (73.9%), oral (63.0%), and pharyngeal (41.3%) involvement were common. Skin manifestations included eyelid papules (73.9%) and extremity lesions (69.6%). At 6 months postoperatively, significant improvements were observed in G (2.70 ± 0.38-1.48 ± 0.51, p < 0.01), VHI-30 (55.6 ± 21.9-42.2 ± 20.9, p < 0.05), and MPT (8.3 ± 2.9-9.6 ± 2.4 s, p < 0.05). The improvement rate reached 100% at 1 year and remained stable at 2 years. Complete glottic closure was restored in 71.7% of patients; 6 patients underwent secondary vocal fold fat injection with further improvement. Lipoid proteinosis typically presents with infantile-onset persistent hoarseness due to diffuse vocal fold deposits. Microlaryngosurgery significantly improves laryngeal morphology and vocal quality with stable long-term outcomes. Vocal fold fat injection may serve as an effective supplementary treatment for selected patients. Early recognition and surgical intervention are crucial for optimizing voice outcomes.