Ann Dermatol.  2017 Oct;29(5):642-644. 10.5021/ad.2017.29.5.642.

A Case of Hailey-Hailey Disease with a Novel Nonsense Mutation in the ATP2C1 Gene

• Yasuda H
• Kanazawa N
• Matsuda M
• Hamada T
• Furumura M
• Hashimoto
• Nakama T
• Furukawa F

• KMID: 2388923
• DOI: http://doi.org/10.5021/ad.2017.29.5.642

Abstract

No abstract available.

MeSH Terms

Codon, Nonsense*
Pemphigus, Benign Familial*
Codon, Nonsense

Figure

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  Fig. 1 (A) Erosive lesion on the inguinal area of the patient. (B) Erythematous lesion with vesicles and crusts on the back of the patient. (C) Separation of keratinocytes at the suprabasal layers of the epidermis observed in the lesional back skin (H&E, ×100). (D) Heterozygous c.1627G>T transition causing a premature termination (p.Gly543X) of the ATP2C1 gene identified by the genetic analysis of the patient′s peripheral blood. (E) Sufficient ATP2C1 mRNA expression in the lesional skin of the patient, comparable in positive control skin with intact epidermis from a patient with urticarial rash. Gene-specific primer pairs used for RT-PCR were as follows: 5′-CCTTATTATGCTGCTTCTGG-3′ and 5′-CTTTGCTTTGCCACATCTGA-3′ for ATP2C1, and 5′-CTCCATCATGAAGTGTGACG-3′ and 5′-TGCTTGCTGATCCACATCTG-3′ for β-actin, which was examined as an internal control.

Reference

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