Evaluation of clinical and radiological findings in lipoid proteinosis cases

The aim of this study was to evaluate the clinical findings obtained from lipoid proteinosis cases, to reveal the incidences seen in the cases, to compare the findings with the literature, to determine the dentist's approach to these cases, to provide dental guidance to increase the quality of life by collaborating with the cases, and to raise awareness among dentists. This study was conducted by evaluating the clinical findings, anamnesis, and family history of 32 lipoid proteinosis cases, 16 of whom were female and 16 of whom were male, living in Şanlıurfa between 2023 and 2025. The data obtained were statistically evaluated. In the study, 100% of the 32 cases examined had thickening/scarring on the skin, 93.8% had hoarseness, 3.1% had epilepsy, 59.4% had beaded papules on the eyelids, 37.5% had nail dystrophy, 96.9% had delayed wound healing, and 84.4% had itching in the wounds. It was also learned that 100% of the cases had a consanguineous relationship between the parents, 75% had an affected sibling, and 96.9% had an affected third-degree relative. When the intraoral findings of the cases in the study were examined, hypodontia was found in 21.9%, microdontia in 6.3%, enamel hypoplasia in 6.3%, tongue thickening/hardness in 53.1%, lingual frenulum thickening in 65.6%, papilla loss in 40.6%, oral mucosa thickening in 87.5%, palate/uvula thickening in 37.5%, lower lip thickening in 81.3%, wounds and cracks in the corner of the mouth in 59.4%. In addition, vestibular sulcus insufficiency was found in 18.8%, crowdedness/narrowing of the teeth in 37.5%, and extensive caries in 81.3%. It was considered that a multidisciplinary approach, including medicine and dentists, was necessary in cases of lipoid proteinosis. Dental treatment approaches support normal growth and development as well as the restoration of aesthetics, function and phonation. Dentists, lipoid proteinosis patients and their parents; He/she should be aware of the need to protect existing teeth in the best way possible and the importance of ensuring oral hygiene and dental stability. It was thought that studies should continue for a better understanding of lipoid proteinosis by dentists. KEYWORDS: Pediatric dentistry, ECM1, genodermatosis, lingual frenulum, lipoid proteinosis