Chediak H Facies

Please click to enlarge.

Note what signs you see.

I (W. Wertelecki, M.D.) see a child with uneven melanic skin pigmentation and frosted-like hair. The mother insists that she was “normal” but after the three months of age her skin pigmentation became “not even”, her lips became pink, her scalp hair became reddish and lately she avoids bright light (photophobia).

PERSPECTIVE: A clever clinician will detect signs that concur with the maternal observations and the concurrence with photophobia would suggest ocular involvement. One conclusion could be that the symptoms-signs are signals of a progressive disorder involving the cutaneous and nervous systems. Further information is given in this patient’s gallery.


Tags: Chediak-Higashi