Epidermolytic Hyperkeratosis: A Challenging Pathology for Clinical Correlation

Hanbuli, Hala M El; Elmahdi, Mohamed; Salem, Marwa A.

doi:10.4274/balkanmedj.galenos.2019.2019.1.127

Cited by 1 publication

(6 citation statements)

References 7 publications

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“…This was consistent with previous studies 10,11 . Eight patients, KRT10‐(P1, P3–P7, and P9) and KRT1‐P10 all presented with typical EI phenotype, characterized by the presence of blisters, erythema, and hyperkeratosis, which were similar with previous reports 2–5 . However, there were variations in the severity of epidermolysis, skin fragility, erythema, and hyperkeratosis.…”

Section: Discussionsupporting

confidence: 91%

“…Patients P1, P5, and P9 had prominent blisters since birth, which need to be distinguished from other disorders, including epidermolysis bullosa, herpes simplex virus infection, Staphylococcal scalded skin syndrome, and autoimmune bullous diseases. Four patients, KRT10‐(P4–P7) all had missense mutations at the same locus, p.Arg156, with two types of hydrophilic amino acid changes (His and Cys), indicating that the p.Arg156 locus might also be a hotspot mutation in Chinese populations, as reported previously in other populations 2–5 . Modeling of Arg156Cys in parallel heterodimers of keratin 10 suggests there is a decrease in the contact distance between the mutant Arg156 and adjacent amino acids.…”

Section: Discussionsupporting

confidence: 61%

“… 10 , 11 Eight patients, KRT10‐(P1, P3–P7, and P9) and KRT1‐P10 all presented with typical EI phenotype, characterized by the presence of blisters, erythema, and hyperkeratosis, which were similar with previous reports. 2 , 3 , 4 , 5 However, there were variations in the severity of epidermolysis, skin fragility, erythema, and hyperkeratosis. Patients P1, P5, and P9 had prominent blisters since birth, which need to be distinguished from other disorders, including epidermolysis bullosa, herpes simplex virus infection, Staphylococcal scalded skin syndrome, and autoimmune bullous diseases.…”

Section: Discussionmentioning

confidence: 99%

“…Approximately 50% of EI cases occur as a result of de novo missense mutations. 3,4 SEI caused by mutations in the KRT2 gene exhibits milder clinical features than the typical form of EI. SEI is characterized by the absence of erythroderma and instead presents with more superficial epidermal fragility.…”

Section: Introductionmentioning

confidence: 99%

“…These mutations disrupt the alignment of keratin protein and the assembly of intermediate filaments in suprabasal keratinocytes, resulting in keratin clumping, cytolysis, cellular collapse, blistering, and impaired barrier function. Approximately 50% of EI cases occur as a result of de novo missense mutations 3,4 . SEI caused by mutations in the KRT2 gene exhibits milder clinical features than the typical form of EI.…”

Section: Introductionmentioning

confidence: 99%

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Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis

Yang

et al. 2023

Pediatric Investigation

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ImportanceKeratinopathic 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.ObjectiveTo analyze the clinical manifestations and gene mutations in Chinese patients with KPI.MethodsClinical 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.ResultsGenetic 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.InterpretationWe 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.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 61%