A Novel Helix Termination Mutation in Keratin 10 in Annular Epidermolytic Ichthyosis, a Variant of Bullous Congenital Ichthyosiform Erythroderma Yasushi.

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A Novel Helix Termination Mutation in Keratin 10 in Annular Epidermolytic Ichthyosis, a Variant of Bullous Congenital Ichthyosiform Erythroderma Yasushi Suga, Karynne O. Duncan, Peter W. Heald, Dennis R. Roop Journal of Investigative Dermatology Volume 111, Issue 6, Pages 1220-1223 (December 1998) DOI: 10.1046/j.1523-1747.1998.00451.x Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Pedigree of the AEI family.□, Men;○, women. Solid and open symbols denote affected and unaffected individuals, respectively. Thearrow indicates the proband (individual IV-2). Journal of Investigative Dermatology 1998 111, 1220-1223DOI: (10.1046/j.1523-1747.1998.00451.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Clinical presentation and histopathology of the proband. (a) Typical flexural presentation, showing the hyperkeratotic lichenified plaques with verruciform columnar scales in linear array over the antecubital fossae, with surrounding, concentric, scaly, annular, and polycyclic plaques. (b) Histopathology of hyperkeratotic lichenified flexural plaque. Hyperkeratosis, acanthosis, and thickened granular layer. Keratinocytes in upper spinous and granular layers of epidermis demonstrate cytoplasmic vacuolization and prominent keratohyaline granules.Scale bar: 50 μm. Journal of Investigative Dermatology 1998 111, 1220-1223DOI: (10.1046/j.1523-1747.1998.00451.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Sequence analysis of the 2B segment of HK10 in the proband and unaffected family members. Direct genomic sequencing of the proband reveals an ATT to ACT mutation at residue 107 (a), compared with the control sequence obtained from an unaffected family member (b). Numbering of the amino acids is with respect to the 2B segment of the rod domain. Journal of Investigative Dermatology 1998 111, 1220-1223DOI: (10.1046/j.1523-1747.1998.00451.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 4 RFLP analysis demonstrating segregation of the mutation with the AEI phenotype. Apo I digestion of the normal allele produces 330 and 160 bp fragments. All affected patients in the family are heterozygous for the 490, 330, and 160 bp fragments. The unaffected persons are homozygous for the 330 and 160 bp fragments. Pedigree numbers correspond to those indicated inFigure 1 Journal of Investigative Dermatology 1998 111, 1220-1223DOI: (10.1046/j.1523-1747.1998.00451.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions