Chediak H

Please click to enlarge.

Note what signs you see.

I (W. Wertelecki, M.D.) see a mother whose daughter pigmentation is much lighter (hypopigmentation). Upon further examination the hypopigmentation includes the skin, hair, iris, etc. (oculo-cutaneous partial albinism). The reason the child was seen is due to recurrent and persistent viral and bacterial infections. Please, see the next image of her hypopigmented hair.

PERSPECTIVE: The concurrence of oculo-cutaneous hypopigmentation with chronic recurrent viral and bacterial infections are sufficient to suggest, among other diagnosis possibilities a lysosomal disorder generally reported as Chediak – Higashi syndrome (clinically described much earlier than the discovery of genetic and gene mutation causing it. Further perspectives are found in the companion image illustrating the hair hypopigmentation.


Tags: Chediak-Higashi