Proteus syndrome Flashcards
1
Q
Proteus syndrome sketch
A
picture AKT1 of a broadway play to remind you of the AKT1 gene mutation
- picture the main character like the hunch back of Notre dame with a large half of face and body (Hemifacial macrosomia), two fingers (syndactyly) and the large limb from capillary/venous/lymphatic malformations
- picture him stepping on a brain to remind you of the cerebriform connective tissue nevi (plantar collagenoma) which are pathognomonic and to remind you that they have impaired intelligence
- picture him holding each of his hands around where the ovaries would be to remind you of the bilateral ovarian cystadenoma
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