Thank you NBME for the high quality pictures. It makes these exams stress free and enjoyable.
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.
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).
It really looks to me like her sclera have been photoshopped, anyone else notice that? xD
I legit thought her oversized pupils were the problem. What genius decided to use this photo.