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Molecular Modeling of Pathogenic Mutations in the Keratin 1B Domain
Open AccessArticle

First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses

1
Dermatology Unit, Bambino Gesù Children’s Hospital, IRCCS, Piazza S. Onofrio, 4, 00165 Rome, Italy
2
IDI-IRCCS, Via dei Monti di Creta, 104, 00167 Rome, Italy
3
Pathology Unit, Bambino Gesù Children’s Hospital, IRCCS, Piazza S. Onofrio, 4, 00165 Rome, Italy
4
Medical Genetics Laboratory, Bambino Gesù Children’s Hospital, IRCCS, Piazza S. Onofrio, 4, 00165 Rome, Italy
5
Genetics and Rare Diseases Research Division, Bambino Gesù Children’s Hospital, IRCCS, Piazza S. Onofrio, 4, 00165 Rome, Italy
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(20), 7707; https://doi.org/10.3390/ijms21207707
Received: 21 August 2020 / Revised: 13 October 2020 / Accepted: 15 October 2020 / Published: 18 October 2020
Keratinopathic ichthyoses (KI) are a clinically heterogeneous group of keratinization disorders due to mutations in KRT1, KTR10, or KRT2 genes encoding keratins of suprabasal epidermis. Characteristic clinical features include superficial blisters and erosions in infancy and progressive development of hyperkeratosis. Histopathology shows epidermolytic hyperkeratosis. We describe the clinical, histopathological, and molecular findings of a series of 26 Italian patients from 19 unrelated families affected with (i) epidermolytic ichthyosis due to KRT1 or KRT10 mutations (7 and 9 cases, respectively); (ii) KTR10-mutated ichthyosis with confetti (2 cases); (iii) KRT2-mutated superficial epidermolytic ichthyosis (5 cases); and (iv) KRT10-mutated epidermolytic nevus (2 cases). Of note, molecular genetic testing in a third case of extensive epidermolytic nevus revealed a somatic missense mutation (p.Asn186Asp) in the KRT2 gene, detected in DNA from lesional skin at an allelic frequency of 25% and, at very low frequency (1.5%), also in blood. Finally, we report three novel dominant mutations, including a frameshift mutation altering the C-terminal V2 domain of keratin 1 in three familiar cases presenting a mild phenotype. Overall, our findings expand the phenotypic and molecular spectrum of KI and show for the first time that epidermolytic nevus can be due to somatic KRT2 mutation. View Full-Text
Keywords: KRT1; KRT10; KRT2; keratin; epidermolytic ichthyosis; superficial epidermolytic ichthyosis; ichthyosis with confetti; epidermal nevus; histopathology; ultrastructure KRT1; KRT10; KRT2; keratin; epidermolytic ichthyosis; superficial epidermolytic ichthyosis; ichthyosis with confetti; epidermal nevus; histopathology; ultrastructure
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Diociaiuti, A.; Castiglia, D.; Corbeddu, M.; Rotunno, R.; Rossi, S.; Pisaneschi, E.; Cesario, C.; Condorelli, A.G.; Zambruno, G.; El Hachem, M. First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses. Int. J. Mol. Sci. 2020, 21, 7707.

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