New and Recurrent SERPINB7 Mutations in Seven Chinese Patients with Nagashima- Type Palmoplantar Keratosis  Jinghua Yin, Guiwen Xu, Huijun Wang, Jiahui Zhao, Lina Duo, Xu Cao, Zhanli Tang, Zhimiao Lin, Yong Yang  Journal of Investigative Dermatology  Volume 134, Issue 8, Pages 2269-2272 (August 2014) DOI: 10.1038/jid.2014.80 Copyright © 2014 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Clinical features and SERPINB7 mutations detected in patients. (a, b) Bilateral reddish, hyperkeratotic lesions with transgredient erythema and keratosis of the palms and soles. (c) Mild erythrokeratoderma affecting the elbow of patient 1. (d) The whitish and spongy appearance of the stratum corneum in patient 7 after exposure to warm water for 5–10 min. (e) The homozygous mutation c.796C>T identified in SERPINB7 in patients 1–4. (f) The heterozygous mutation c.796C>T identified in SERPINB7 in patients 5 and 6. (g) The heterozygous frameshift mutation c.650-653delCTGT in SERPINB7 in patient 5. (h) The heterozygous mutation c.455 G>T identified in SERPINB7 in patient 6. (i) The homozygous frameshift mutation c.522-523insT identified in SERPINB7 in patient 7. Journal of Investigative Dermatology 2014 134, 2269-2272DOI: (10.1038/jid.2014.80) Copyright © 2014 The Society for Investigative Dermatology, Inc Terms and Conditions