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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Juvenile xanthogranuloma as a new type of skin lesions in tuberous sclerosis complex

Fig. 1

a The timeline of the patient. b Family pedigree. The black square indicates TSC patient. The square with slash indicates the person is died. Sequence chromatograms show TSC1 mutation (c.2356C > T, p.R786*) in both paraffin block tissue and blood samples. The mutation is also found in blood of his mother and grandfather. c-d Nodules on the scalp and abdomen (white arrow) and hypomelanotic macule on the abdomen (black arrow) before treatment. e-f The multiple nodules disappeared and hypomelanotic macule in the abdomen was no change (black arrow) after 3 months of sirolimus

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