Hermansky Pudlak syndrome

Question 1

Hermansky pudlak syndrome sketch:

Answer 1

• genes are HPS1-9

Think of Jorge Posada (HP) with depigmented skin who is a puerto rican baseball player to remind you that this is most common in puerto ricans and is an AR disorder with oculocutaneous albinism

• He is trying to close a fuse in the fuse box (cerrar la fuse!) to remind you of the lysosomal accumulation of ceroid lipofuscin

- picture him struggling to close the fuse because he is cross-eyed and blinded by the light bulb in front of him to remind you of strabismus, nystagmus, and photophobia

• he has a nose bleed and bruises all over his arms from batting practice to remind you of the extensive ecchymoses, nosebleeds and menorrhagia that occurs due to platelet storage pool defect
• He is clenched over holding his stomach due to granulomatous colitis

- picture him having labored breathing because hes an out of shape catcher to remind you of the progressive pulmonary fibrosis (number one cause of death!!) and cardiomyopathy, and also has renal failure (all of these due to lysosomal ceroid accumulation)

• He is already towards the end of his life by 30-50 yo as this is the life expectancy
• picture him out of shape without “dense” or muscular body to remind you of the absence of dense bodies in platelets on electron microscopy.