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Query: UMLS:C0019621 (Langerhans cell histiocytosis)
 3,250 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 8 year old boy who had Langerhans cell histiocytosis when he was 15 months old showed psychomotor regression from the age of 2 years. Microcephaly, severe growth deficiency, and ocular telangiectasia were also evident. Magnetic nuclear resonance imaging showed cerebellar atrophy. Alphafetoprotein was increased. Chromosome instability after x irradiation and rearrangements involving chromosome 7 were found. Molecular study failed to show mutations involving the ataxia-telangiectasia gene. This patient has a clinical picture which is difficult to relate to a known breakage syndrome. Also, the relationship between the clinical phenotype and histiocytosis is unclear.
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PMID:Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome. 1005 Oct 19

Juvenile xanthogranuloma(JXG) is the variant of non-Langerhans' cell histiocytosis. The orange-yellow background coloration with clouds of paler yellow deposits is the most characteristic dermoscopic finding of JXG. Other dermoscopic features include erythematous border, subtle pigment network and white linear streak. The objective of this study was to present the structural correlation between dermoscopic features and histopathological findings of JXG and to find the different dermoscopic features in various stages of JXG. Eleven patients with histologically proven JXG were examined with polarized light dermoscopy. Histopathological findings were assessed and dermoscopic features including setting sun appearance, clouds of paler yellow globules, whitish streak, and branched and linear vessels were evaluated. Among 11 patients, five patients were in early evolutionary stage, four patients in fully developed stage and two in late regressive stage. The setting sun appearance was found in all patients in different stages except one in late regressive stage (90.9%). The clouds of paler yellow globules were present in nine patients (81.8%) and were constant features in fully developed stage and late regressive stage. The whitish streak was present in four patients (36.4%) and telangiectasia in 10 patients (81.8%). The setting sun appearance may hold diagnostic value in early evolutionary stage to fully developed stage, but not in late regressive stage. The clouds of paler yellow globules are more predominant in fully developed stage and late regressive stage. In addition to the use of dermoscopy as an accurate diagnostic tool for differential diagnosis, it could be applied in evaluation of histopathological maturation of JXG.
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PMID:Structural correlations between dermoscopic and histopathological features of juvenile xanthogranuloma. 2069 15