Intra-Familial Phenotypic Variability in Lipoid Proteinosis: A Case Series of Three Siblings.
Lipoid proteinosis (LP), or Urbach-Wiethe disease, is an ultra-rare autosomal-recessive disorder caused by loss-of-function variants in the ECM1 gene. It is characterized by the progressive deposition of hyaline-like material in the skin, mucosae, and central nervous system. This series describes th...
| Published in: | Clinical Medicine Insights: Case Reports Vol. 19; pp. 1 - 12 |
|---|---|
| Main Authors: | , , , , |
| Format: | case study pictorial Journal Article |
| Published: |
Sage Publications Inc.
6/25/2026
|
| Online Access: | View this record in EBSCOhost |