Cargando…

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis: Clinical Presentation

Autosomal recessive congenital ichthyosis (ARCI) is a group of hereditary, nonsyndromic disorders of keratinization. ARCI encompasses several different clinical presentations and is caused by various genetic mutations. Commonly, ARCI presents with a taut, thick, shiny stratum corneum called a collod...

Descripción completa

Detalles Bibliográficos
Autores principales:	Dumenigo, Andrea, Rusk, Amanda, Marathe, Kalyani
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2022
Materias:	Dermatology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8932220/ https://www.ncbi.nlm.nih.gov/pubmed/35350521 http://dx.doi.org/10.7759/cureus.22272

Ejemplares similares

Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis
por: Tang, Haiyan, et al.
Publicado: (2021)

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation
por: Esperón-Moldes, Uxia, et al.
Publicado: (2020)

Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis
por: Chulpanova, Daria S., et al.
Publicado: (2022)

Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans
por: Radner, Franz P. W., et al.
Publicado: (2013)

Isotretinoin Treatment for Autosomal Recessive Congenital Ichthyosis in a Golden Retriever
por: Petak, Ana, et al.
Publicado: (2022)

PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis
por: Zeng, Fansi, et al.
Publicado: (2022)

A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs
por: Casal, Margret L., et al.
Publicado: (2017)

Correction: Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans
por: Radner, Franz P. W., et al.
Publicado: (2013)

Mutations in Transglutaminase 1 Gene in Autosomal Recessive Congenital Ichthyosis in Egyptian Families
por: Shawky, R. M., et al.
Publicado: (2004)

A Case Report of a Collodion Baby: An Autosomal Recessive Genodermatosis
por: Quazi, Sabiha, et al.
Publicado: (2023)

A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient
por: Vaigundan, D., et al.
Publicado: (2014)

Oral Manifestation of Autosomal Recessive Congenital Ichthyosis in a 2-Year-Old Patient
por: Ramar, Kavitha, et al.
Publicado: (2014)

Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients
por: Sathishkumar, Dharshini, et al.
Publicado: (2018)

Uniparental disomy as a mechanism for CERS3‐mutated autosomal recessive congenital ichthyosis
por: Polubothu, S., et al.
Publicado: (2018)

Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
por: Peña-Corona, Sheila I., et al.
Publicado: (2023)

Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family
por: Karim, Noreen, et al.
Publicado: (2019)

NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy
por: Briand, Amaury, et al.
Publicado: (2019)

Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis
por: MAZEREEUW-HAUTIER, Juliette, et al.
Publicado: (2020)

Ophthalmic Review on Neonatal Harlequin Ichthyosis
por: Yeoh, Boon Juan, et al.
Publicado: (2023)

Ichthyosis Congenita, Harlequin Type: A Fatal Case Report
por: Tahir, Amber, et al.
Publicado: (2018)

Assessing the Use of Ustekinumab in a Pediatric Patient With Harlequin Ichthyosis
por: Almuhanna, Nouf, et al.
Publicado: (2023)

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan
por: Lima Cunha, Dulce, et al.
Publicado: (2019)

Harlequin Ichthyosis: A Fatal Case Report in Al-Medina, Saudi Arabia
por: Shahada, Omar, et al.
Publicado: (2022)

A Case of Ichthyosis Vulgaris and the Use of 70% Glycolic Acid Chemical Peels for Management
por: Palmer, Victoria, et al.
Publicado: (2022)

A Unique Case of Harlequin Ichthyosis in the Tertiary Health Care System in a Rural Area
por: Lainingwala, Aashka C, et al.
Publicado: (2023)

Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis
por: Li, Liangshan, et al.
Publicado: (2019)

Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis
por: Hotz, Alrun, et al.
Publicado: (2023)

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital Ichthyosis
por: Charfeddine, Cherine, et al.
Publicado: (2021)

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis
por: Pohler, E., et al.
Publicado: (2015)

The effect of two endogenous retinoids on the mRNA expression profile in human primary keratinocytes, focusing on genes causing autosomal recessive congenital ichthyosis
por: Törmä, H., et al.
Publicado: (2014)

Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients
por: Fioretti, Tiziana, et al.
Publicado: (2020)

Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population
por: Macriz-Romero, Nicole, et al.
Publicado: (2023)

Terminal Ileitis as the Presenting Feature of Henoch-Schönlein Purpura in a 22-Year-Old Male
por: Waleed, Muhammad, et al.
Publicado: (2021)

Bilateral, Symmetrical, Congenital Becker’s Nevus Melanosis: A Rare Presentation and Review of the Literature
por: Abdulwahab, Rahaf A, et al.
Publicado: (2023)

A Case of Multiple Self-Involuting, Mixed Presentation, Giant Congenital Juvenile Xanthogranuloma
por: Malana, Erika, et al.
Publicado: (2023)

De novo mutations in autosomal recessive congenital malformations
por: Black, Holly A., et al.
Publicado: (2016)

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts
por: Irum, Bushra, et al.
Publicado: (2016)

A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris
por: Shearer, Zackary, et al.
Publicado: (2023)

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family
por: Jiao, Xiaodong, et al.
Publicado: (2019)

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification
por: Gruber, Robert, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_cssmd04j6vobcvf17rfqek26b7