Related Experiment Video

Updated: May 17, 2026

Long-Term Catheterization of the Intestinal Lymph Trunk and Collection of Lymph in Neonatal Pigs
06:25

Long-Term Catheterization of the Intestinal Lymph Trunk and Collection of Lymph in Neonatal Pigs

Published on: March 5, 2016

Lipoid proteinosis in a six-year-old child

Surajit Nayak1, Basanti Acharjya

  • 1Department of Skin and VD, MKCG Medical College and Hospital, Berhampur, Orissa, India.

Indian Dermatology Online Journal
|November 7, 2012
PubMed

Insights

Lipoid proteinosis (LiP) is a rare genetic disorder affecting the ECM1 gene. This case highlights a young girl with LiP presenting with unusual skin lesions, including eyelid margin abnormalities.

Area of Science:

  • Genetics
  • Dermatology
  • Rare Diseases

Background:

  • Lipoid proteinosis (LiP) is a rare autosomal recessive disorder.
  • It results from loss-of-function mutations in the extracellular matrix protein 1 (ECM1) gene.
  • LiP is characterized by hoarseness, waxy skin deposits, and scarring.

Observation:

  • A 6-year-old female child presented with recurrent vesicullobullous lesions.
  • The patient also exhibited beaded lesions on her eyelid margins.
  • These symptoms are consistent with Lipoid proteinosis.

Findings:

  • The case details a pediatric patient diagnosed with Lipoid proteinosis.
  • The presentation included characteristic skin and eyelid findings.
  • This case underscores the varied clinical manifestations of LiP.

Implications:

  • Early diagnosis of LiP is crucial for managing associated complications.
  • Understanding ECM1 gene mutations aids in genetic counseling.
  • Further research into LiP pathogenesis may reveal novel therapeutic targets.

Keywords:
Childhoodlipoid proteinosismoniliform blepharosis

More Related Videos

A Modified Technique for Inducing Polycystic Ovary Syndrome in Mice04:49

A Modified Technique for Inducing Polycystic Ovary Syndrome in Mice

Published on: July 5, 2024

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Pharmacokinetics in Pediatric Patients: Drug Distribution01:17

Pharmacokinetics in Pediatric Patients: Drug Distribution

Drug distribution in the pediatric population exhibits unique challenges and considerations due to the physiological differences between children, particularly neonates and infants, and adults. A crucial aspect of pediatric pharmacology is understanding how these differences impact the pharmacokinetics of various drugs, necessitating age-specific dosing strategies to ensure efficacy and safety.Neonates and infants have a higher total body water content, ~75%–90% of their body weight, compared...
Overview of Protein Metabolism01:21

Overview of Protein Metabolism

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses a challenge in...
Pharmacokinetics in Pediatric Patients: Drug Excretion01:26

Pharmacokinetics in Pediatric Patients: Drug Excretion

In pediatric medicine, understanding the renal function and drug elimination nuances is crucial for administering safe and effective treatments. Newborns, in particular, display markedly slower renal functions than adults, profoundly affecting how drugs are cleared from their bodies. This slower drug clearance requires clinicians to extend the dosing intervals for many medications to prevent drug accumulation and toxicity while ensuring therapeutic efficacy.One key area where these adjustments...