NEW SIDE EFFECTS IN PROLONGED CHLORPROMAZINE THERAPY.
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Clinical information has been obtained on 82 Angelman syndrome (AS) families in the UK. Each patient was examined by the author and a detailed clinical history taken. The findings of this study are presented.
BACKGROUND AND OBJECTIVE: Melanin is a limiting factor for obtaining beneficial results in dermatological treatment of vascular malformations. The aim of our study was to establish a relation between pretreatment skin pigmentation and the occurrence of side effects. STUDY DESIGN/MATERIALS AND METHODS: Thirteen human volunteers selected to have a varying degree of skin pigmentation were laser-treated on the inside of the brachium with an argon laser (AL, 488 nm and 514.5 nm) and a copper vapor laser (CVL, 578 nm), both connected to a Hexascan. Total exposure areas were 1.26 cm2 and beam diameters were 1 mm. Three intensities were used, 0.7, 1.0, and 1.3 W. Pulse duration was 200 ms, resulting in fluences of 17.8, 25.5, and 33.1 J/cm2. Pretreatment skin pigmentation was objectified by skin reflectance measurements. RESULTS: At 1, 2, and 6 months after laser treatment, significant correlations were demonstrated between pretreatment skin pigmentation and laser-induced pigmentary changes and scar formation. At the 6-month assessment, the AL induced significantly higher scores of clinically evaluated scar formation as compared with the CVL (1.0 and 1.3 W/spot) and tended to induce higher clinical scores of pigmentary changes (not significant, ns). CONCLUSIONS: We recommend skin pigmentation to be taken into consideration in dermatological laser treatment of vascular malformations.
A case of human piebaldism with white forelock is presented, with emphasis on the unusual aspect of expansion and diminution of the hypomelanotic areas. Possible mechanisms of piebaldism and of changes in the hypomelanotic areas are discussed.
The region of mouse Chromosome (Chr) 7 containing the mouse pink-eyed dilution locus, p, is syntenic with human chromosome 15q11-q13, a region associated with three human syndromes, Prader-Willi syndrome (PWS), Angelman syndrome (AS), and a form of hypomelanosis of Ito (HI). Because some mutant alleles of p also share a subset of phenotypes with PWS, AS, and HI, the same gene or genes disrupted by p locus mutations are potentially involved in the phenotypes of PWS, AS, and HI.
A case of de novo del(4)(q12q21.1) is presented. Three of four patients with comparable deletion show abnormal integumentary pigmentation, which is compatible with the known autosomal dominantly inherited piebald trait. Further analysis of breakpoints of five cases with proximal interstitial 4q deletion suggests the possible localization of the piebald trait gene within the band 4q12.
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