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Observational Study
. 2025 May;39(5):1028-1037.
doi: 10.1111/jdv.20096. Epub 2024 May 13.

Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort

Leonie Frommherz  1 , Kathrin Giehl  1 , Josephine Hofmann  1 , Stefanie Huebner  2 , Kirstin Kiekbusch  3 , Teodora Sabkova  2 , Kira Süßmuth  4 , Svenja Alter  5 , Iliana Tantcheva-Poór  6 , Hagen Ott  7 , Judith Fischer  5 , Cristina Has  2
Affiliations
Observational Study

Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort

Leonie Frommherz et al. J Eur Acad Dermatol Venereol. 2025 May.

Abstract

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.

Methods: We conducted an observational study involving 48 patients diagnosed with EI. Evaluations included the severity of skin involvement using the Investigator's Global Assessment (IGA), the modified Ichthyosis Area Severity Index (mIASI) and complications. The burden of disease was evaluated using the Dermatology Life Quality Index (DLQI) or the Children's Dermatology Life Quality Index (cDLQI).

Results: Based on clinical features, mIASI and IGA, EI can be categorized into localized, intermediate and severe forms. Patients with keratin 1 mutations tended to have severe EI, while the three forms were evenly distributed in those with keratin 10 mutations. The study highlights that around half of the patients with EI experienced itch and severe pain. Quality of life was affected, with daily life restrictions of 78% due to care and therapies. Reimbursement for moisturizing ointments by health insurance was insufficient for one-quarter of cases.

Conclusions: The results emphasize the need for targeted interventions and comprehensive care strategies to enhance the quality of life for affected individuals.

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Conflict of interest statement

The authors state no conflict of interest.

Figures

FIGURE 1
FIGURE 1
Distribution of severity grades in EI. (a) mIASI scores in the respective groups (mean mIASI: localized, 4.3; intermediate, 11.7; severe, 25.4). (b) KRT1 is associated with a higher prevalence of severe cases. Distribution of mIASI scores was based on genotype.
FIGURE 2
FIGURE 2
Clinical spectrum of epidermolytic ichthyosis. (a) Mild manifestation of EI due to KRT1 defect (mIASI: 3.4). (b) Severe case with generalized keratosis and erythema (mIASI: 26.9). (c) Intermediate case with erosions and keratoses (mIASI 9.2). (d) Generalized keratosis, erythema (mIASI: 19.6).
FIGURE 3
FIGURE 3
Palmoplantar keratoderma. (a) Palmoplantar hyperlinear patterns and focal keratoses due to a pathogenic variant in KRT10. mIASI score + 1. (b) Marked diffuse hyperkeratosis palmoplantar involving up to 100% of the area. mIASI score + 3. (c) Pronounced hyperkeratosis with the presence of fissures. mIASI score + 4.
FIGURE 4
FIGURE 4
Symptoms of the disease and impairment of quality of life. (a) Depending on the severity, patients experience itching and pain (more common in the KRT1 group overall). (b) Distribution of DLQI values based on genotype and phenotype.
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