A Usual Frameshift and Delayed Termination Codon Mutation in Keratin 5 Causes a Novel Type of Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

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A Usual Frameshift and Delayed Termination Codon Mutation in Keratin 5 Causes a Novel Type of Epidermolysis Bullosa Simplex with Migratory Circinate Erythema Li-Hong Gu, Yoshiro Ichiki, Miki Nagai, Yasuo Kitajima Journal of Investigative Dermatology Volume 121, Issue 3, Pages 482-485 (September 2003) DOI: 10.1046/j.1523-1747.2003.12424.x Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Clinical spectrum of the Japanese case. (a) Annular multiple circinate erythema with migration over the thigh of case 1 (age 1 y). (b) Multiple vesicles on the dorsal side of the left hand of case 1 (age 1 y). (c) A skin biopsy discloses an extensive split through the basal cell layer. (d) Normal control demonstrates strong staining with anti-K5 antibody (C50). (e) No reactivity to anti-K5 antibody (C50) in the epidermis of case 1 specimen. (f) Normal control demonstrates strong staining with anti-K5 antibody (RCK102). (g) Faint reactivity to anti-K5 antibody (RCK102) in the basal cells of case 1 specimen. (h) Electron microscopy of skin biopsy of case 1 discloses acantholysis of spinous cells and no aggregation of tonofilaments. Journal of Investigative Dermatology 2003 121, 482-485DOI: (10.1046/j.1523-1747.2003.12424.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Clinical spectrum of the Korean family. (a) Filled symbols in the pedigree represent affected individuals. An arrow indicates the index patient. All of the affected individuals indicated by asterisks were found to contain the mutation. (b) Migratory circinate erythema and vesicles on the area affected by erythema over the thigh of individual 1 (age 1 y). (c) Generalized hypopigmented and hyperpigmented patches on the trunk and extremities of individual 2; all affected adult members in the family had similar pigmentary changes as her skin lesion. (d) A skin biopsy discloses an extensive split through the basal cell layer. (e) Normal control skin demonstrates strong staining against anti-K5 antibody (C50). (f) No reactivity to anti-K5 antibody (C50) in the epidermis of case 1 specimen. Journal of Investigative Dermatology 2003 121, 482-485DOI: (10.1046/j.1523-1747.2003.12424.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Mutation analysis of the EBS patients. (a) In the affected Japanese girl, sequence analysis of PCR fragments discloses a heterozygous deletion mutation (1649delG) in exon 9 of KRT5. This mutation leads to a frameshift and delayed termination codon. (b) Comparison of amino acid sequence of wild-type and mutant K5 spanning the V2 domain. Numbers denote the amino acid positions. The region affected by the mutation is indicated in the schematic drawing of K5. Journal of Investigative Dermatology 2003 121, 482-485DOI: (10.1046/j.1523-1747.2003.12424.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions