Discovery of heterozygous
            <i>KRT10</i>
            alterations in MAUIE cases underlines the importance of regular skin cancer screening in ichthyosis with confetti

Burger, Bettina; Ghosh, Adhideb; Ng, Charlotte K.Y.; Piscuoglio, Salvatore; Spoerri, I.; Itin, Peter; Greer, Kenneth E.; Elbaum, David J.

doi:10.1111/bjd.19218

Cited by 2 publications

(2 citation statements)

References 9 publications

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“…Furthermore, multiple cutaneous squamous cell carcinomas and malignant melanoma had been found in IWC-I patients. 21,22 Particularly, the mutation c.1336dupA found in P12, had been reported in one typical IWC-I patient previously. He had some clinical manifestations that were not found in patient P12, such as unguis inflexus, large lunulae, long nail plates, decreased finger length, joint contractions, and numerous pale spots that appeared after 3 years of age.…”

Section: Discussionmentioning

confidence: 65%

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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: Discussionmentioning

confidence: 65%

“…Meanwhile, we found that neurological and psychomotor abnormalities (6) in IWC‐I were not rare. Furthermore, multiple cutaneous squamous cell carcinomas and malignant melanoma had been found in IWC‐I patients 21,22 . Particularly, the mutation c.1336dupA found in P12, had been reported in one typical IWC‐I patient previously.…”

Section: Discussionmentioning

confidence: 91%