The clinician readily notes pigmentary deficiencies such as vitiligo, piebaldism, and albinism. Less overt defects, such as those seen in phenylketonuria, require careful and thoughtful patient evaluation. Recent studies indicate that some variations in pigmentation, particularly those which are on a genetically determined basis, may offer insights into basic biologic mechanisms and inject new sig`nificance into inspection of the patient.
A relatively new disease in this category is the autosomal-recessive Chediak-Higashi (CH) syndrome. CH syndrome develops in a child who is normal at birth except for diminished pigmentation, which leaves residual color based on the color of the parents; eg, children of Japanese parents will have blue-gray hair and be pigmented irregularly and lightly, whereas white children will appear almost as classical albinos. After some months or years, these children manifest susceptibility to infection, possibly more so to viral infection, and eventually die with hepatosplenomegaly and bone marrow failure.1
Windhorst DB. INSPECTION OF THE PATIENT AND CELL BIOLOGY. JAMA. 1968;205(1):40. doi:10.1001/jama.1968.03140270064013
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