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Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort.
J Eur Acad Dermatol Venereol
May 2024
Department of Dermatology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Background: Keratinopathic ichthyoses are a group of hereditary skin disorders caused by pathogenic variants in keratin genes such as KRT1, KRT2 and KRT10, resulting in conditions such as epidermolytic ichthyosis (EI), autosomal-recessive EI, superficial EI and epidermal nevus. Case reports highlight the diversity of clinical manifestations, but only limited information exists regarding the quality of life and burden of disease.
Objectives: The objective of this study was to assess the clinical spectrum, genotype-phenotype correlations and burden of disease in patients with epidermolytic ichthyosis in Germany.
First Case of Superficial Epidermolytic Ichthyosis Successfully Treated by Dupilumab.
Dermatitis
July 2024
From the Department of Dermatology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Henan University People's Hospital, Zhengzhou, Henan, China.
Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis.
Pediatr Investig
September 2023
Department of Dermatology, Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China.
Article Synopsis
- Keratinopathic ichthyosis (KPI) is a genetic skin disorder caused by mutations in certain genes, and its symptoms can vary widely among individuals.
- * A study involved 13 Chinese children with KPI, where DNA sequencing was used to identify specific gene mutations and their relation to clinical symptoms.
- * The findings revealed that different types of mutations corresponded to distinct skin features, and suggested that oral acitretin may be a potential treatment for severe cases.
Alitretinoin as a Treatment Modality for Ichthyosis in Women of Childbearing Age: A Case Series and Review of the Literature.
Dermatology
February 2024
Department of Dermatology, Maastricht University Medical Centre +, Maastricht, The Netherlands.
Article Synopsis
- Acitretin, a common oral treatment for ichthyosis, requires extended contraceptive measures post-treatment, posing challenges for women of childbearing age; alitretinoin is suggested as a safer alternative that allows pregnancy one month after stopping the medication.
- A study involved nine women aged 19-31 with various ichthyosis types, treated with alitretinoin for 2-28 months, showing significant improvements in skin severity scores.
- Side effects were generally mild and reversible; literature search revealed that most previous studies on alitretinoin for ichthyosis also reported significant improvements, indicating its potential as a valuable treatment option.
Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in .
Int J Mol Sci
July 2022
Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.
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.
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