AI Article Synopsis
- Superficial epidermolytic ichthyosis (SEI) is a hereditary skin condition caused by mutations, specifically affecting the gene that leads to symptoms like red, blistered skin, often visible at birth.
- A Japanese family presented two cases of SEI with a specific mutation (p.Glu487Lys), demonstrating varied onset ages, with one patient starting symptoms at 7 months and no signs of erythroderma in either.
- A review of 34 previous cases with the same mutation showed that about 44.4% had symptoms at birth, but only 11.1% exhibited erythroderma, highlighting variability in manifestation among patients with this condition.
Article Abstract
Superficial epidermolytic ichthyosis (SEI) is an autosomal dominant inherited ichthyosis. SEI is caused by mutations in and frequently shows erythroderma and widespread blistering at birth. We report the clinical manifestations of two patients from a Japanese family with SEI caused by a hotspot mutation, p.Glu487Lys, in . In addition, we summarize previous reports on SEI patients with the identical mutation. One of the two patients had disease onset at the age of 7 months. The other patient's age of onset is unknown, but it was in childhood. Neither of the two patients showed erythroderma. To perform deep phenotyping, we studied the age of onset and the frequency of erythroderma in 34 reported SEI cases with the p.Glu487Lys mutation, including the present cases. Among the cases with sufficient clinical information, 44.4% of the cases that were due to p.Glu487Lys in occurred at birth. Erythroderma was observed in 11.1% of the cases with p.Glu487Lys in .
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9317500 | PMC |
| http://dx.doi.org/10.3390/ijms23147791 | DOI Listing |
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