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

OBJECTIVES: To analyze the clinical characteristics of patients with lipoid proteinosis and evaluate the long-term efficacy of microsurgical treatment for laryngeal lesions. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.