A Spontaneous Novel c.679dupG Mutation in the LOR Gene Resulting in Loricrin Keratoderma with Ichthyosis

A Spontaneous Novel c.679dupG Mutation in the LOR Gene Resulting in Loricrin Keratoderma with Ichthyosis

Authors

  • Divya Bhalla CSIR-Institute of Genomics and Integrative Biology, New Delhi, India
  • Vamsi K. Yenamandra Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India
  • Tanvi Dev Maulana Azad Medical College, New Delhi, India
  • Vishal Gaurav Department of Dermatology and Venereology, Maulana Azad Medical College, Delhi

Keywords:

Loricrin, palmoplantar keratoderma, LOR gene, Ichthyosis

References

Dev T, Mahajan VK, Sethuraman G. Hereditary palmoplantar keratoderma: A practical approach to the diagnosis. Indian Dermatol Online J. 2019;10:365-379. DOI: 10.4103/idoj.IDOJ_367_18. PMID: 31334055

Gedicke MM, Traupe H, Fischer B, et al. Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature. Br J Dermatol. 2006; 154(1):167-171. DOI: 10.1111/j.1365-2133.2005.06995.x. PMID: 16403113.

Montero-Vilchez T, Martinez-Lopez A, Rodriguez-Tejero A, et al. Loricrin keratoderma: Description of a novel mutation, systematic review and meta-analysis between genotypic and phenotypic features. J Dtsch Dermatol Ges. 2020;18(11):1316-1321. DOI: 10.1111/ddg.14224. PMID: 32833329.

Drera B, Tadini G, Balbo F, Marchese L, Barlati S, Colombi M. De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma. Clin Genet. 2008;73(1):85-88. DOI: 10.1111/j.1399-0004.2007.00914.x. PMID: 17953701.

Fontana E, Caroppo F, Belloni Fortina A. Clinical remission of loricrin keratoderma with tamoxifen: A case report. Acta Derm Venereol. 2020;100(16):adv0027. DOI: 10.2340/00015555-3618. PMID: 32852565.

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Published

2026-01-30

How to Cite

1.
Bhalla D, Yenamandra VK, Dev T, Gaurav V. A Spontaneous Novel c.679dupG Mutation in the LOR Gene Resulting in Loricrin Keratoderma with Ichthyosis. Dermatol Pract Concept. 2026;16(1):5940. doi:10.5826/dpc.1601a5940

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