Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation in KRT1 Shotaro Suzuki, Toshifumi Nomura, Toshinari Miyauchi, Masae Takeda,

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Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation in KRT1 Shotaro Suzuki, Toshifumi Nomura, Toshinari Miyauchi, Masae Takeda, Hideki Nakamura, Satoru Shinkuma, Yasuyuki Fujita, Masashi Akiyama, Hiroshi Shimizu Journal of Investigative Dermatology Volume 136, Issue 10, Pages 2093-2095 (October 2016) DOI: 10.1016/j.jid.2016.05.109 Copyright © 2016 The Authors Terms and Conditions

Figure 1 Clinical and histological features of revertant skin. (a, b) The proband showed marked increases in the number and size of normal-appearing spots between (a) 2008 and (b) 2015. The patient gave permission to publish her photographs. (c) Histological comparison between the affected epidermis and spots 1 and 2 on the epidermis. The affected epidermis showed hyperkeratosis, parakeratosis, and acanthosis with perinuclear mislocalization of keratin 1, with a marked reduction of keratin 2 expression. Spots 1 and 2 on the epidermis exhibited histological recovery. Nuclei were counterstained with 4',6-diamidino-2-phenylindole (DAPI). Scale bar = 50 μm. H&E, hematoxylin and eosin; KRT1, keratin 1; KRT2, keratin 2; yo, years old. Journal of Investigative Dermatology 2016 136, 2093-2095DOI: (10.1016/j.jid.2016.05.109) Copyright © 2016 The Authors Terms and Conditions

Figure 2 Somatic loss of the disease-causing mutation resulting from copy-neutral LOHs. (a) A dermoscopic view of revertant spots 1 and 2. Scale bar = 5 mm. The dotted circles illustrate the punch biopsy sites. (b) The disease-causing mutation c.1758_1759insT in KRT1 (RefSeq: NM_006121.3) was present in both the epidermis and dermis in the affected skin. The mutation was absent in the epidermis of both spots of the unaffected skin, whereas it was present in the dermis. (c) Whole-genome SNP microarray identified copy-neutral LOHs on chromosome arm 12q in revertant spots 1 and 2, whereas no LOHs were detected in the affected epidermis. In both spots, the LOHs started from regions centromeric to KRT1 and extended to the telomere of the chromosome. Arg, arginine; Gly, glycine; Leu, leucine; LOH, loss of heterozygosity; SNP, single nucleotide polymorphism; Tyr, tyrosine. Journal of Investigative Dermatology 2016 136, 2093-2095DOI: (10.1016/j.jid.2016.05.109) Copyright © 2016 The Authors Terms and Conditions