Related Experiment Video
Updated: Dec 18, 2025

A Fluorescence-based Assay for Characterization and Quantification of Lipid Droplet Formation in Human Intestinal Organoids
Published on: October 13, 2019
Lipoid Proteinosis: A Rare Disease In Pediatric Dentistry
Alan Grupioni Lourenço1,2, Vera Cavalcanti Araújo2, Fabricio Passador-Santos2
1Department of Basic and Oral Biology, School of Dentistry of Ribeirão Preto, Ribeirão Preto, SP, Brazil.
Abstract:
This report describes the diagnostic process of a rare disorder in a Brazilian female child. The patient presented initially as a 7-year-old with multiple whitish submucosal nodules of a fibrous consistency in the lower lip, but with an inconclusive pathology report. When she turned 9 years of age, she presented with exacerbation of the original clinical findings, which then involved the upper lip, buccal mucosa, tongue and lingual frenulum. In addition, dermatological lesions were noted on the child's limbs and face, as well as a hoarse voice. Histopathological examination of the buccal mucosa revealed dense connective tissue with hyaline foci, which were positive with periodic acid-Schiff (PAS) staining and resistant to diastase digestion. Clinical and histopathological findings led to the diagnosis of a rare genetic disease with fewer than 300 reported cases - lipoid proteinosis. Magnetic resonance imaging revealed calcium deposits in her amygdaloid region of the brain, and nasopharyngolaryngoscopy revealed lesions in her vocal cords. The patient currently is stable and under multidisciplinary follow-up, but no treatment has been recommended to date.
More Related Videos
07:12Author Spotlight: Analysis of Fluorescent-Stained Lipid Droplets with 3D Reconstruction for Hepatic Steatosis Assessment
Published on: June 2, 2023
07:26Isolation of Whole Cell Protein Lysates from Mouse Facial Processes and Cultured Palatal Mesenchyme Cells for Phosphoprotein Analysis
Published on: April 1, 2022
Related Concept Videos
Lysosomal Hydrolases
Pharmacokinetics in Pediatric Patients: Drug Distribution
Overview of Protein Metabolism
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Inborn Errors of Metabolism
Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption
Pharmacokinetics in Pediatric Patients: Drug Excretion