Abstract:
:Ichthyosis hystrix, Curth-Macklin type (IHCM) is an extremely rare autosomal dominant dermatosis caused by mutations in the keratin genes, KRT1 or KRT10, which often manifests as extensive, dark, spiky or verrucous plaques and severe palmoplantar keratoderma. We report a novel frameshift truncation mutation, c.1596_1597insAT (p.Gly533Metfs*82) in exon 7 (V2 tail domain) of KRT1, which, by replacing the glycine-serine-rich tail of KRT1 with a series of 75 alanine-rich amino acids, produces a mild IHCM phenotype. The patient with the mutation presented with localized ichthyosis and progressive hyperkeratosis of the palms and soles with no history of blistering.
journal_name
Clin Exp Dermatoljournal_title
Clinical and experimental dermatologyauthors
Yang Z,Xu Z,Zhang N,Ma Ldoi
10.1111/ced.14193subject
Has Abstractpub_date
2020-08-01 00:00:00pages
719-721issue
6eissn
0307-6938issn
1365-2230journal_volume
45pub_type
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