Progressive Depigmentation

Please click to enlarge.

Note what signs you see.

I (W. Wertelecki, M.D.) see facial skin and lips which became progressively depigmented (gradual partial albinism).

PERSPECTIVE: Any gradual alterations during early childhood and unlikely to be due to the environment should suggest the possibility of a metabolic (genetic) disorder. A peripheral blood smear, in this instance, was diagnostic (please see recent postings and further illustrations in this patient’s gallery).

CLINICAL PEARL: Notice the significant depigmentation of the lips and of the nipples (see patient’s gallery). Consider the metabolic properties of these mucosa-endocrine related tissues (such what may be seen as trivial may in fact be clues to the pathogenesis of C-H syndrome).

 

Tags: Chediak-Higashi, dysmorphmix3, snUpLipPhiltr