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Mutations in KRT10 in epidermolytic acanthoma.
J Cutan Pathol. 2020 Jun; 47(6):524-529.JC

Abstract

BACKGROUND

Epidermolytic acanthoma (EA) is a rare acquired lesion demonstrating a characteristic histopathological pattern of epidermal degeneration referred to as epidermolytic hyperkeratosis (EHK). On histopathological analysis, EA appears nearly identical to inherited EHK-associated dermatoses such as epidermolytic ichthyosis and ichthyosis bullosa of Siemens. While it has been speculated that EA is caused by mutations in KRT10, KRT1, or KRT2 found in these inherited dermatoses, none have yet been identified. Herein, we aim to identify the contributions of keratin mutations to EA.

METHODS

Using genomic DNA extracted from paraffin-embedded samples from departmental archives, we evaluated a discovery cohort using whole-exome sequencing (WES) and assessed remaining samples using Sanger sequencing screening and restriction fragment length polymorphism (RFLP) analysis.

RESULTS

DNA from 16/20 cases in our sample was of sufficient quality for polymerase chain reaction amplification. WES of genomic DNA from lesional tissue revealed KRT10 c.466C > T, p.Arg156Cys mutations in 2/3 samples submitted for examination. RFLP analysis of these samples as well as eight additional samples confirmed the mutations identified via WES and identified four additional cases with Arg156 mutations. In sum, 6/11 screened cases showed hotspot mutation in KRT10.

CONCLUSIONS

Hotspot mutations in the Arg156 position of KRT10, known to cause epidermolytic ichthyosis, also underlie EA.

Authors+Show Affiliations

Department of Dermatology, Yale School of Medicine, New Haven, Connecticut.Department of Dermatology, Yale School of Medicine, New Haven, Connecticut.Department of Pathology, University of Montréal, Montréal, Quebec, Canada.Department of Dermatology, Yale School of Medicine, New Haven, Connecticut.Department of Dermatology, Yale School of Medicine, New Haven, Connecticut. Department of Genetics, Yale School of Medicine, New Haven, Connecticut. Department of Pathology, Yale School of Medicine, New Haven, Connecticut.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32045015

Citation

Cheraghlou, Shayan, et al. "Mutations in KRT10 in Epidermolytic Acanthoma." Journal of Cutaneous Pathology, vol. 47, no. 6, 2020, pp. 524-529.
Cheraghlou S, Atzmony L, Roy SF, et al. Mutations in KRT10 in epidermolytic acanthoma. J Cutan Pathol. 2020;47(6):524-529.
Cheraghlou, S., Atzmony, L., Roy, S. F., McNiff, J. M., & Choate, K. A. (2020). Mutations in KRT10 in epidermolytic acanthoma. Journal of Cutaneous Pathology, 47(6), 524-529. https://doi.org/10.1111/cup.13664
Cheraghlou S, et al. Mutations in KRT10 in Epidermolytic Acanthoma. J Cutan Pathol. 2020;47(6):524-529. PubMed PMID: 32045015.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutations in KRT10 in epidermolytic acanthoma. AU - Cheraghlou,Shayan, AU - Atzmony,Lihi, AU - Roy,Simon F, AU - McNiff,Jennifer M, AU - Choate,Keith A, Y1 - 2020/02/19/ PY - 2019/09/13/received PY - 2020/01/08/revised PY - 2020/01/24/accepted PY - 2020/2/12/pubmed PY - 2020/2/12/medline PY - 2020/2/12/entrez KW - KRT10 KW - epidermolytic acanthoma KW - keratin 10 KW - mutations KW - whole-exome sequencing SP - 524 EP - 529 JF - Journal of cutaneous pathology JO - J. Cutan. Pathol. VL - 47 IS - 6 N2 - BACKGROUND: Epidermolytic acanthoma (EA) is a rare acquired lesion demonstrating a characteristic histopathological pattern of epidermal degeneration referred to as epidermolytic hyperkeratosis (EHK). On histopathological analysis, EA appears nearly identical to inherited EHK-associated dermatoses such as epidermolytic ichthyosis and ichthyosis bullosa of Siemens. While it has been speculated that EA is caused by mutations in KRT10, KRT1, or KRT2 found in these inherited dermatoses, none have yet been identified. Herein, we aim to identify the contributions of keratin mutations to EA. METHODS: Using genomic DNA extracted from paraffin-embedded samples from departmental archives, we evaluated a discovery cohort using whole-exome sequencing (WES) and assessed remaining samples using Sanger sequencing screening and restriction fragment length polymorphism (RFLP) analysis. RESULTS: DNA from 16/20 cases in our sample was of sufficient quality for polymerase chain reaction amplification. WES of genomic DNA from lesional tissue revealed KRT10 c.466C > T, p.Arg156Cys mutations in 2/3 samples submitted for examination. RFLP analysis of these samples as well as eight additional samples confirmed the mutations identified via WES and identified four additional cases with Arg156 mutations. In sum, 6/11 screened cases showed hotspot mutation in KRT10. CONCLUSIONS: Hotspot mutations in the Arg156 position of KRT10, known to cause epidermolytic ichthyosis, also underlie EA. SN - 1600-0560 UR - https://www.unboundmedicine.com/medline/citation/32045015/Mutations_in_KRT10_in_epidermolytic_acanthoma L2 - https://doi.org/10.1111/cup.13664 DB - PRIME DP - Unbound Medicine ER -
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