Menkes kinky hair disease (MKHD) syndrome




Menkes kinky hair disease (MKHD) syndrome mnemonic


MENKES


MEN (XLR), MNK gene which encodes for a CU++-transporting APTase
Early death
pNeumonia (and other infections), trichorehexis Nodosa (may be seen)
Kinky hair (pili torti) -+ pili torti is more common than TN
Extra skin on palms (degen'd vessel elastic tissue)
Seizures, Skeletal changes





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