Lipoid Proteinosis, Its Symptoms, and Oral Manifestations: A Case Report and Review of Literature

Abstract

Introduction: Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is an autosomal recessive disorder characterized by the deposition of glycoproteins in mucous membranes, skin, and organs. Symptoms typically begin in childhood, persist throughout life, and encompass hoarseness, skin inflammation, scarring, and ulcers, resulting in a waxy appearance. Oral manifestations present as white plaques and ulcers, significantly impacting the oral cavity. To date, approximately 400 cases have been reported worldwide. Case Presentation: Herein, we present the case of a 36-year-old female diagnosed with LP who sought a dental implant evaluation. Her medical history revealed tooth decay, which necessitated extractions, and she had previously undergone maxillary implant placement and mandibular bone grafting. Upon general examination, the patient exhibited voice hoarseness, hyperkeratosis on the elbows and hands, and papules on the fingers. Oral examination revealed firm and fibrotic mucosa, papillomatosis, and limited mouth opening. Hyposalivation and the absence of the left parotid duct orifice were noted. No significant abnormalities were observed on the eyelids or face. Salivary gland assessment indicated a reduced flow rate (1 ml in 5 minutes). This case highlights the importance of conducting a comprehensive evaluation and tailoring management strategies to the individual needs of patients with LP. Conclusions: Lipoid proteinosis is a rare mucocutaneous disorder characterized by a slow and benign course, with varying prevalence in different regions. Early recognition of oral symptoms is crucial, as they often precede skin and neurological manifestations. Although typical oral signs usually include tongue firmness and an inability to protrude, these were not observed in the present case. Xerostomia and dental agenesis, though uncommon, have been reported in previous cases, consistent with the findings of the present case, although different areas of the oral cavity might be involved in some instances.