Lipoid Proteinosis: Curious Case of Two Siblings!

Indian Dermatol Online J

Smt SCL General Hospital, Saraspur, Ahmedabad, Gujarat, India.

Published: July 2020

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413457PMC
http://dx.doi.org/10.4103/idoj.IDOJ_611_19DOI Listing

Publication Analysis

Top Keywords

lipoid proteinosis
4
proteinosis curious
4
curious case
4
case siblings!
4
lipoid
1
curious
1
case
1
siblings!
1

Similar Publications

Lipoid proteinosis is a rare genetic disorder affecting the skin, mucous membranes, and central nervous system. Here, we present the case of a 35-year-old female who presented with two episodes of seizures followed by loss of consciousness and injury to the nose. A CT scan and MRI of the brain revealed small symmetrical calcifications in the bilateral medial temporal lobes, a finding highly suggestive of lipoid proteinosis.

View Article and Find Full Text PDF
Article Synopsis
  • Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare genetic disorder that causes abnormal material buildup in various tissues, including skin and organs, and can sometimes lead to neurological issues.
  • A case of a 25-year-old male presented with unexpected left leg weakness, which diverged from the typical symptoms of LP like skin and voice changes, highlighting the need to explore LP's possible neurological effects.
  • Imaging revealed brain abnormalities and possible complications involving the liver and thyroid, indicating that LP might be linked to motor weakness and suggesting a need for more research into its neurological manifestations.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!