Cargando…

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

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...

Descripción completa

Detalles Bibliográficos
Autores principales:	Diociaiuti, Andrea, Castiglia, Daniele, Corbeddu, Marialuisa, Rotunno, Roberta, Rossi, Sabrina, Pisaneschi, Elisa, Cesario, Claudia, Condorelli, Angelo Giuseppe, Zambruno, Giovanna, El Hachem, May
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7593923/ https://www.ncbi.nlm.nih.gov/pubmed/33081034 http://dx.doi.org/10.3390/ijms21207707

Ejemplares similares

Italian translation, cultural adaptation, and pilot testing of a questionnaire to assess family burden in inherited ichthyoses
por: El Hachem, May, et al.
Publicado: (2019)

Correction to: Italian translation, cultural adaptation, and pilot testing of a questionnaire to assess family burden in inherited ichthyoses
por: El Hachem, May, et al.
Publicado: (2020)

The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study
por: ABENI, Damiano, et al.
Publicado: (2021)

A multicenter study on quality of life of the “greater patient” in congenital ichthyoses
por: Abeni, Damiano, et al.
Publicado: (2021)

Xanthomatous nevus: A potential new entity
por: Corbeddu, Marialuisa, et al.
Publicado: (2021)

Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization
por: Diociaiuti, Andrea, et al.
Publicado: (2021)

Epidermolytic Nevus: An Instance of Mosaic Epidermolytic Ichthyosis
por: Adya, Keshavmurthy A., et al.
Publicado: (2020)

Management of Upper Airway Infantile Hemangiomas: Experience of One Italian Multidisciplinary Center
por: Corbeddu, Marialuisa, et al.
Publicado: (2021)

Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study
por: Diociaiuti, Andrea, et al.
Publicado: (2022)

Self-improving dominant dystrophic epidermolysis bullosa: phenotypic variability associated with COL7A1 mutation p.Gly2037Glu
por: Diociaiuti, Andrea, et al.
Publicado: (2021)

EPIDERMOLYTIC HYPERKERATOSIS IN INFLAMMATORY LINEAR VERRUCOUS EPIDERMAL NEVUS
por: Meibodi, Naser Tayyebi, et al.
Publicado: (2011)

Nevus Comedonicus with Epidermolytic Hyperkeratosis: A Case Report
por: Taghavi, Faezeh, et al.
Publicado: (2022)

PIK3CA-related overgrowth with an uncommon phenotype: case report
por: Rotunno, Roberta, et al.
Publicado: (2022)

Ichthyosis with confetti: clinics, molecular genetics and management
por: Guerra, Liliana, et al.
Publicado: (2015)

Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2
por: Suzuki, Yuika, et al.
Publicado: (2022)

Bilateral Systematised Epidermolytic Epidermal Nevus: A case report
por: Kerawala, Sabeika R., et al.
Publicado: (2021)

ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges
por: MATTIOLI, Girolamo, et al.
Publicado: (2022)

Bilateral Systematized Epidermolytic Verrucous Epidermal Nevus: A Rare Entity
por: Mishra, Vivek, et al.
Publicado: (2015)

Angioma serpiginosum: a case report and review of the literature
por: Diociaiuti, Andrea, et al.
Publicado: (2019)

Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis
por: Yang, Zhou, et al.
Publicado: (2023)

Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma
por: Li, Changxing, et al.
Publicado: (2019)

Multidisciplinary care for patients with epidermolysis bullosa from birth to adolescence: experience of one Italian reference center
por: Retrosi, Chiara, et al.
Publicado: (2022)

Distinguishing Ichthyoses by Protein Profiling
por: Rice, Robert H., et al.
Publicado: (2013)

Advancing novel therapies for ichthyoses
por: Schmuth, M., et al.
Publicado: (2020)

Adult‐onset epidermal nevus with epidermolytic hyperkeratotic pattern: Case report and dermoscopic findings
por: Mahshid Sadat, Ansari, et al.
Publicado: (2020)

Mutation p.R156H of KRT10 responsible for severe phenotype of epidermolytic ichthyosis in a Chinese family
por: Li, Zhiliang, et al.
Publicado: (2014)

Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma
por: Li, Yuwei, et al.
Publicado: (2019)

Notch-ing up knowledge on molecular mechanisms of skin fibrosis: focus on the multifaceted Notch signalling pathway
por: Condorelli, Angelo Giuseppe, et al.
Publicado: (2021)

Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review
por: Rotunno, Roberta, et al.
Publicado: (2021)

UPDATED MOLECULAR GENETICS AND PATHOGENESIS OF ICHTHYOSES
por: AKIYAMA, MASASHI
Publicado: (2011)

Genetics of Inherited Ichthyoses and Related Diseases
por: FISCHER, Judith, et al.
Publicado: (2020)

Bullous diseases caused by KRT1 gene mutations: from epidermolytic hyperkeratosis to a novel variant of epidermolysis bullosa simplex
por: Osipowicz, Katarzyna, et al.
Publicado: (2020)

Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation
por: Diociaiuti, Andrea, et al.
Publicado: (2022)

A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis
por: Caroppo, Francesca, et al.
Publicado: (2020)

Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment
por: Vahlquist, Anders, et al.
Publicado: (2017)

Inherited ichthyoses: molecular causes of the disease in Czech patients
por: Borská, Romana, et al.
Publicado: (2019)

Epidermolysis Bullosa in children: the central role of the pediatrician
por: Marchili, Maria Rosaria, et al.
Publicado: (2022)

Epidermolytic Hyperkeratosis - case report
por: Hayashida, Marcos Takeyoshi, et al.
Publicado: (2015)

Epidermolytic hyperkeratosis: clinical update
por: Peter Rout, Denice, et al.
Publicado: (2019)

Visualization of Keratin with Diffuse Reflectance and Autofluorescence Imaging and Nonlinear Optical Microscopy in a Rare Keratinopathic Ichthyosis
por: Anker, Pálma, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_2ifdqash3k3o4ai9lb3smek4hm