The diagnosis is Osteogenesis Imperfecta. Disease causes a defect in Type 1 Collagen that leads to “brittle bones”, meaning the patients have frequent fractures with little trauma. Type 1 collagen is also a major component of the sclera -> this is what the picture was hinting at (i think?) and it causes “blue sclera”. The sclera are thin/translucent so they look blue due to underlying choroidal veins.
Finally, patients have poor wound healing. Wound repair with granulation tissue involves type 3 collage which is then converted to type 1 collagen during scar formation. Defects in type 1 collagen obviously don’t allow this process to take place.
Damn everyone out here looking at the eyes when my dumbass was thinking the girl was missing a nasal bridge or something lol fml
It really looks to me like her sclera have been photoshopped, anyone else notice that? xD
She has Osteogenesis Imperfecta. Aka “Brittle Bone Dz” aka Collagen Type I deficiency. U need collagen type I to make scars (granulation tissue is type III and then metalloproteases and zinc cofactors help digest into the firm type I collagen).
fam I had almost convinced myself I was looking at some epicanthal folds
I legit thought her oversized pupils were the problem. What genius decided to use this photo.
Just another piss poor government institution cutting corners. If you've done NBME 18 and seen the cell diagram figure it is the literal pinnacle
submitted by ∗atstillisafraud(217)
Thank you NBME for the high quality pictures. It makes these exams stress free and enjoyable.