Nail-Patella Synorome



Nail-Patella Synorome


Helen Liapis, MD

Joseph Gaut, MD, PhD










In nail-patella syndrome (NPS), glomeruli typically have minimal changes by light microscopy. The glomerulus illustrated has minimal mesangial hypercellularity.






In NPS, phosphotungstic acid stain reveals electron-dense bundles of collagen fibrils image in the GBM by electron microscopy. This stain helps visualize bundles and their ˜ 60 nm periodicity image.


TERMINOLOGY


Abbreviations



  • Nail-patella syndrome (NPS)


Synonyms



  • Hereditary onychoosteodysplasia (HOOD) syndrome


Definitions



  • Inherited syndrome presenting with nail, skeletal abnormalities, and proteinuria secondary to mutations in LMX1B gene

Jul 7, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Nail-Patella Synorome
Premium Wordpress Themes by UFO Themes
%d bloggers like this: