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Ring chromosome 11 and café-au-lait spots.

We report on the segregation of a cytogenetically non-deleted ring chromosome 11 and café-au-lait spots in a family. This appears to be the largest inherited ring autosome yet reported.

Adolescent↗

Quantification of skin color in patients undergoing maintenance hemodialysis.

BACKGROUND: In patients undergoing long-term hemodialysis, a peculiar hyperpigmentation develops, the intensity of which may or may not be related to the duration of treatment and use of erythropoietin. OBJECTIVE: Our purpose was to conduct a comparative cross-sectional study of white patients with distinct diseases that modify their skin color. METHODS: A reflected-light colorimeter was used to compare the color of the forehead and forearms of 61 white patients receiving hemodialysis with that of matched controls and of patients with anemia or icterus. RESULTS: Significant differences were found in both reflectance and chromaticity between these groups of patients. Duration of hemodialysis and use of erythropoietin did not significantly influence the colorimetric measurements. CONCLUSION: The use of a color-reflectance meter allows precise evaluation of subtle changes in skin color and may be used to monitor several diseases.

Adult↗

Biochemistry of copper.

Copper, as a component of numerous cuproenzymes, plays a vital role in many physiologic functions in man and animals. From the stand-point of human health there are at least three functional areas of prime importance. Copper is involved in the development and maintenance of cardiovascular and skeletal integrity, central nervous system structure and function, and erythropoietic function including iron metabolism. Although there is no evidence for widespread copper deficiency in the human population, it does occur, owing to genetic defects and other precipitating factors. A clear understanding of the functions of copper and its mechanisms of action could prove highly beneficial in the solution of present and unforeseen problems in medicine.

Anemia↗

Localized depigmentation after steroid injection of a ganglion cyst on the hand.

Presented is the case of a man who had localized depigmentation after local injection of triamcinolone diacetate. Search of the literature indicates that this is a rare complication of such therapy. Localized depigmentation may have important cultural implications for dark-skinned patients. There is some experimental evidence that less-potent and shorter-acting steroid preparations have a lower likelihood for depigmenting side effects, and such agents may be more appropriate when injecting subcutaneous structures to prevent this complication.

Adult↗