Richner-Hanhart syndrome Flashcards
1
Q
Richner-Hanhart syndrome, AKA oculocutaneous tyrosinemia Sketch:
A
- Think about Richner-Hanhart the tyrant (tyrosine) standing with his hand over his heart. (picture a pirate)
- he has a tattoo that says AR (the pirate noise ARRRR) to remind you of the TAT gene and autosomal recessive inheritence
- He has two eye patches on to remind you of the dendritic keratitis, corneal ulcers, and blindness! (these often present prior to skin findings)
- He is walking around with a limp because of the focal painful PPK on weight-bearing areas (“Hand-hurts”)
- also, hes mentally retarded (who gets a tattoo of ARRRR???)
- He is on a diet low in phenylalanine (this is the treatment)
