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. 2014 Feb;134(2):543-546.
doi: 10.1038/jid.2013.312. Epub 2013 Jul 24.

AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome

Marjorie J Lindhurst  1 , Ji-An Wang  2 , Hadley M Bloomhardt  3 , Alison M Witkowski  3 , Larry N Singh  3 , David P Bick  4 , Michael J Gambello  5 , Cynthia M Powell  6 , Chyi-Chia Richard Lee  7 , Thomas N Darling  2 , Leslie G Biesecker  3
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AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome

Marjorie J Lindhurst et al. J Invest Dermatol. 2014 Feb.
No abstract available

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Figures

Figure 1
Figure 1
Representative examples of an EN and CCTN. Panel a shows the rough surface of the linear EN on the infraaxillary vault in patient 101. Hematoxylin and eosin stain (b, scale bar = 100 μm; c, scale bar = 50 μm) of a skin biopsy from the EN in panel a. The lesion is characterized by papillomatosis, mild hyperkeratosis, and acanthosis. Panel d shows the CCTN encompassing the hallux of patient 75. Hematoxylin and eosin stain of skin obtained after amputation of the hallux (e, scale bar = 100 μm; f, scale bar = 50 μm). Note the extensive dense collagen matrix, compression of the papillary dermis and the smooth surface of the lesion.
Figure 2
Figure 2
Percentage of AKT1 c.49G>A, p.Glu17Lys mutation in epidermal and dermal cells and tissue. One keratinocyte culture (left panel) was established from each epidermal sample. Mutation percentages are indicated by the blue circles. Multiple fibroblast cultures (right panel) were established from most pieces of dermal tissue. The mutation percentage for each fibroblast culture is indicated by a green circle. The mean mutation percentage for the fibroblast cultures from each sample is indicated by a green square and the mutation percentage in residual dermal tissue post culture is indicated by a yellow triangle. Samples are ordered from lowest to highest mutation value (keratinocytes) or mean mutation value (fibroblasts) and are color coded as follows: EN, red, CCTN, black, unaffected/unknown, light blue.
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