Epidermolytic ichthyosis (EI) is a rare autosomal dominant keratinization disorder characterized by blistering at birth followed by progressive hyperkeratosis. Treatment is primarily supportive, involving emollients, keratolytics, and occasionally systemic agents. We report a pediatric case of clinically and histologically confirmed linear EI that showed marked improvement with topical urea 30% cream. Therapy led to substantial reduction in scaling, smoother skin texture, and improved comfort, with no adverse effects. This case highlights the potential role of high-concentration urea as a safe and effective monotherapy in pediatric EI. Epidermolytic hyperkeratosis is a rare autosomal dominant pathology of cornification caused by mutations in keratins 1 and 10. The condition was originally termed "bullous congenital ichthyosiform erythroderma" owing to the hallmark features of erythroderma, blistering, and skin denudation present at birth, with subsequent development of marked hyperkeratosis. Symptoms occur with or without palmoplantar keratoderma. Epidermolytic hyperkeratosis may be distinguished from other forms of congenital ichthyosis by its characteristic histopathologic features. The condition has been reclassified in recent literature as a distinct pathologic entity referred to as "epidermolytic ichthyosis."

Epidermolytic ichthyosis (EI), a rare autosomal dominant skin disorder caused by mutations in the KRT1 and KRT10 genes, results in thickened, scaly, and blister-prone skin. Traditional treatments, such as ammonium lactate and retinoids, often fail to adequately manage symptoms. This case report explores the use of a bentonite-containing soap, as a novel and efficacious therapy for a 70-year-old female patient with EI. Despite long-term treatment with ammonium lactate and exfoliating baths, the patient continued to experience persistent scaling and thickened skin. After the addition of the bentonite-containing soap, the patient reported significant improvement in scaling, particularly on the hands and feet, with smoother skin and reduced scaling. Bentonite's exfoliating, antibacterial, and wound-healing properties, along with its ability to restore the skin barrier, likely contributed to these improvements. These promising results highlight the potential of bentonite-based products for managing EI, though further clinical trials are needed to evaluate long-term safety and efficacy.

Epidermolytic ichthyosis (EI) is a type of congenital ichthyosis, characterized by erythema and blistering at birth followed by hyperkeratosis. EI is caused by pathogenic variants in the genes KRT1 and KRT10, encoding the proteins keratin 1 (KRT1) and keratin 10 (KRT10), respectively, and is primarily transmitted by autosomal-dominant inheritance, although recessive inheritance caused by nonsense variants in KRT10 is also described. The keratins form a network of intermediate filaments and are a structural component of the cytoskeleton, giving strength and resilience to the skin. We present three cases of mild EI caused by pathogenic KRT10 variations in the L12 linker domain. To our knowledge, this is the first time L12 linker domain pathogenic variants are identified in KRT10 for EI. The aim of this study was to identify gene variants for patients with EI in KRT1 or KRT10. To establish the pathogenicity of the found variations in KRT10, we evaluated all patients and available family members clinically. Genetic analyses were performed using Sanger sequencing. Vectors containing wild-type or mutated forms of KRT10 were transfected into HaCaT cells and analyzed by high-resolution confocal microscopy. Genetic analysis of KRT10 identified a heterozygous de novo variant c.910G>A p.(Val304Met) in family 1, a familial heterozygous variant c.911T>C p.(Val304Ala) in family 2, and a familial heterozygous variant c.917T>C p.(Met306Thr) in family 3. All identified missense variants were located in the L12 linker domain of KRT10. In vitro study of aggregate formation of the missense variants in KRT10 only showed a very mild and not quantifiable aggregate formation in the KRT10 network, compared with the wild-type sequence. We report three different novel missense variants in the L12 linker domain of KRT10 in patients with an atypical, milder form of EI resembling peeling skin syndrome.

Keratosis palmoplantaris striata type I (SPPK-I) is a rare autosomal-dominant type of hereditary epidermolytic palmoplantar keratoderma, which can be caused by mutations in desmoglein-1 (DSG-1). Patients suffer from hyperkeratotic plaques and painful palmoplantar fissures. Unfortunately, treatment options including salicylic vaseline, topical corticosteroids, phototherapy, and retinoids are inefficient. Hereditary palmoplantar keratodermas (PPKs) represent a heterogeneous group of rare skin disorders with epidermal palmoplantar hyperkeratosis. Mutations in the desmoglein 1 gene (DSG1), a transmembrane glycoprotein, have been reported primarily in striate PPKs. We report a patient with keratosis palmoplantaris striata type I (SPPK-I) with a specific pathogenic variant [c.349C>T, p.(Arg117*)] in DSG1. Despite increased understanding, effective treatment options for PPK, including SPPK-I, remain limited.

Keratinopathic ichthyosis (KPI) represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the KRT1, KRT2, or KRT10 genes. In KPI, the relationship between genotype and phenotype is complex. To analyze the clinical manifestations and gene mutations in Chinese patients with KPI. Clinical data were collected from 13 children diagnosed with KPI, and peripheral blood DNA samples were extracted from both the patients and their parents Next-generation sequencing was performed using a congenital ichthyosis multi-gene panel, and the selected variants in the patients and their parents were further validated using the Sanger sequencing method. Genetic analysis identified missense mutations in either KRT1 or KRT10 in ten patients exhibiting varying degrees of severity and distinct features of epidermolytic ichthyosis. A missense hotspot mutation in KRT2 was identified in one patient with superficial epidermolytic ichthyosis. Additionally, two truncation mutations in KRT10 were detected, leading to the development of generalized ichthyosiform erythroderma. Ear malformation and ectropion at birth, scalp involvement, and palmoplantar hyperkeratosis were observed as early signs of ichthyosis with confetti. We analyzed the genotype-phenotype correlations in KPI, revealing that the types and locations of different mutations are associated with distinct phenotypic characteristics. Oral acitretin could be considered a treatment option for severe patients at an appropriate dosage and timing.