Year: 2025
Type: article
Abstract: Lipoid proteinosis (LP) is a rare congenital disorder marked by hyaline material accumulation in various organs, with only about 400 cases reported. Clinical manifestations range from asymptomatic skin lesions to severe laryngeal obstruction, including hoarseness from infancy, mucocutaneous involvement, moniliform blepharosis, and dental anomalies like tooth aplasia. Although no cure exists, symptomatic treatment can manage LP's effects. This case report presents a 28-year-old female with recurrent skin lesions, hoarseness, moniliform blepharosis, and dental anomalies, including seven congenitally missing teeth and limited mouth opening. Early recognition and management of dental complications are critical for maintaining oral health in LP patients. Understanding LP's clinical features is vital for improving patient care and expanding knowledge of congenital disorders. Keywords: Lipoid proteinosis, Dental, Aplasia, Metabolic
Author: Abrielle K Lamphere
Institution: Indiana University Fort Wayne
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7082372157
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