Molecular Profiling to Diagnose a Case of Atypical Dermatomyositis

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Molecular Profiling to Diagnose a Case of Atypical Dermatomyositis Kavita Y. Sarin, Lorinda Chung, Jinah Kim, Brandon W. Higgs, Bahia Jallal, Yihong Yao, David F. Fiorentino Journal of Investigative Dermatology Volume 133, Issue 12, Pages 2796-2799 (December 2013) DOI: 10.1038/jid.2013.240 Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Clinical and histological features of dermatomyositis and psoriasis in a 32-year-old woman. (a) Scaly violaceous plaques and papules over metacarpophalangeal, proximal interphalangeal, and distal interphalangeal joints. Periungual telangiectasia. (b) Well-demarcated erythematous plaques with micaceous scale on knees. (c) Scaly erythematous plaques on extensor aspects of forearm. (d) Skin biopsy of psoriatic plaque on knee reveals confluent parakeratosis, loss of granular layer, epidermal acanthosis, and dilated papillary vessels. Bar=100μM. Hematoxylin and eosin, X20, original magnification. (e) Colloidal iron stain skin biopsy demonstrating abundant mucin (blue) in the dermis. Bar=180μM. Journal of Investigative Dermatology 2013 133, 2796-2799DOI: (10.1038/jid.2013.240) Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Genome-wide analysis of lesional skin specimens of psoriasis and dermatomyositis (DM). (a) One-way unsupervised clustering of genes in lesional skin specimens from 33 independent psoriatic patients and 34 DM patients. Venn diagram depicts functional pathways induced (red) and repressed (green) in DM and psoriasis. (b, c) Unsupervised hierarchical clustering of 68 tissue biopsies including psoriasis, DM, and our patient’s biopsy (arrow). Array elements that varied at least 1.5-fold from the median on at least six microarrays were included (3,048 genes). Dendrogram depicts our patient’s sample (red) clustering among the DM samples. Data are displayed as a hierarchical cluster where rows represent genes and columns represent samples. Colored pixels capture the magnitude of the differential expression for any gene. Shades of red and green represent induction and repression, respectively, relative to the median for each gene. Black pixels reflect no change from the median. (d, left) Principal components analysis (PCA) plot unscaled using all probes for DM and psoriasis and our patient sample (red, right). PCA plot with median scaling batch adjustment for the psoriasis and DM samples using significant probe sets with a t-test P<0.01 and |FC|>1.5 between psoriasis and DM. (e, above) One-way unsupervised clustering of genes with placement of lesional skin biopsy from our patient in the center of DM and psoriasis samples. Eight clusters are identified, labeled 1–8, which correspond to different gene expression patterns between the psoriasis and DM samples. (Below) Graph of Pearson correlation coefficient between our sample and the mean of the psoriasis (red) or DM (blue) gene expression values across 100 genes (moving window). (f) List of significant genes and functional pathways found in each cluster. ECM, extracellular matrix; PSO, psoriasis; VEGF, vascular endothelial growth factor. Journal of Investigative Dermatology 2013 133, 2796-2799DOI: (10.1038/jid.2013.240) Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions