1,242 results match your criteria Ichthyosis Lamellar

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.

Ital J Pediatr 2022 Aug 13;48(1):145. Epub 2022 Aug 13.

Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University of Palermo, Palermo, Italy.

Background: Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overall incidence of 6.7 in 100,000. Read More

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PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis.

Metabolites 2022 Jul 26;12(8). Epub 2022 Jul 26.

Chongqing Key Laboratory of Big Data for Bio-Intelligence, School of Bio-Information, Chongqing University of Posts and Telecommunications, Chongqing 400065, China.

The stratum corneum of the epidermis acts as a life-sustaining permeability barrier. Unique heterogeneous ceramides, especially ω-O-acylceramides, are key components for the formation of stable lamellar membrane structures in the stratum corneum and are essential for a vital epidermal permeability barrier. Several enzymes involved in acylceramide synthesis have been demonstrated to be associated with ichthyosis. Read More

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Generalized blistering and erythroderma in a young girl.

Pediatr Dermatol 2022 05;39(3):464-466

National Skin Centre, Singapore.

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Bilateral viral keratitis in lamellar ichthyosis: A rare ocular manifestation.

Indian J Ophthalmol 2022 Jul;70(7):2628-2629

Department of Cornea and Refractive Services, Aravind Eye Hospital, Pondicherry, India.

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Successful Treatment of an Adult with Atopic Dermatitis and Lamellar Ichthyosis Using Dupilumab.

Biologics 2022 23;16:85-88. Epub 2022 Jun 23.

Dermatology Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Lamellar ichthyosis (LI) is a rare autosomal cornification disorder, with most cases due to a mutation in the transglutaminase-1 (TGM1) gene on chromosome 14. Patients with LI usually present with a collodion membrane and mild erythroderma at birth, with the collodion membranes shedding within the first weeks of life and being replaced by a generalized scale. Typically, LI is managed with oral retinoids, emollients, and keratolytic agents, eg, lactic acid. Read More

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Compound Heterozygous Mutations in Causing a Severe Form of Lamellar Ichthyosis: A Case Report.

Pharmgenomics Pers Med 2022 7;15:583-588. Epub 2022 Jun 7.

Department of Dermatology, the Second Hospital of Jilin University, Changchun, People's Republic of China.

We aimed to detect the pathogenic gene mutations in a patient with lamellar ichthyosis (LI). The genomic DNA of the patient was examined using high-throughput whole-exome sequencing to identify the causative mutations. Compound heterozygous mutations of c. Read More

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Distinct skin microbiome community structures in congenital ichthyosis.

Br J Dermatol 2022 May 28. Epub 2022 May 28.

A*STAR Skin Research Labs, Agency for Science, Technology and Research, 8A Biomedical Grove, #06-10 Immunos, Singapore, 138648, Singapore.

Background: The ichthyoses are rare genetic keratinizing disorders that share the characteristics of an impaired epidermal barrier and increased risk of microbial infections. Although ichthyotic diseases share a T helper (Th) 17 cell immune signature, including increased expression of antimicrobial peptides, the skin microbiota of ichthyoses is virtually unexplored.

Objectives: To analyse the metagenome profile of skin microbiome for major congenital ichthyosis subtypes. Read More

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Congenital lamellar ichthyosis complicated with erosive pseudo pustulosis: A rare clincal entity. About a case and review of the literature.

Ann Chir Plast Esthet 2022 Jun 22;67(3):176-179. Epub 2022 May 22.

Plastic, Reconstructive and Aesthetic Surgery Unit, Nantes University Hospital, 1, place Alexis Ricordeau, 44000 Nantes, France.

Introduction: Lamellar ichthyosis is a rare congenital disorder that can be encountered by plastic surgeon in a daily practice. Its clinical diagnosis makes it an significant pathology to identify and to know how to treat.

Material And Methods: We report the case of a patient suffering from lamellar ichthyosis complicated by erosive pseudo pustulosis of the scalp. Read More

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ω-O-Acylceramides but not ω-hydroxy ceramides are required for healthy lamellar phase architecture of skin barrier lipids.

J Lipid Res 2022 06 12;63(6):100226. Epub 2022 May 12.

Charles University, Faculty of Pharmacy in Hradec Králové, Hradec Králové, Czech Republic. Electronic address:

Epidermal omega-O-acylceramides (ω-O-acylCers) are essential components of a competent skin barrier. These unusual sphingolipids with ultralong N-acyl chains contain linoleic acid esterified to the terminal hydroxyl of the N-acyl, the formation of which requires the transacylase activity of patatin-like phospholipase domain containing 1 (PNPLA1). In ichthyosis with dysfunctional PNPLA1, ω-O-acylCer levels are significantly decreased, and ω-hydroxylated Cers (ω-OHCers) accumulate. Read More

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Harlequin Ichthyosis: A Fatal Case Report in Al-Medina, Saudi Arabia.

Cureus 2022 Mar 27;14(3):e23533. Epub 2022 Mar 27.

Dermatology, Alrayan Medical College, Medina, SAU.

Harlequin ichthyosis (HI) is an autosomal recessive disorder. It is a fatal disease and many infants born with HI die shortly after birth. The incidence is extremely rare and is reported to be about 1 in 300,000 births. Read More

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Harlequin fetus: A case report.

Indian J Pathol Microbiol 2022 Apr-Jun;65(2):462-464

Department of Pathology, PCMC's PGI, YCMH, Pimpri, Pune, Maharashtra, India.

Harlequin ichthyosis (HI) is the most severe type of congenital ichthyosis. It is extremely rare with very few cases reported in India. It is inherited in an autosomal recessive fashion. Read More

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Transcriptomic Analysis of the Major Orphan Ichthyosis Subtypes Reveals Shared Immune and Barrier Signatures.

J Invest Dermatol 2022 Sep 11;142(9):2363-2374.e18. Epub 2022 Apr 11.

Department of Dermatology, Icahn School of Medicine at Mount Sinai, New York, New York, USA. Electronic address:

Preliminary work suggested upregulation of inflammatory pathways in patients with common forms of ichthyosis. However, a comprehensive characterization of skin from various ichthyosis subtypes is unavailable, precluding the development of targeted treatments. Thus, we sought to characterize the immune and barrier profiles of common and subtype-specific skin transcriptomes in a large group of patients with ichthyosis. Read More

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September 2022

Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis.

Front Genet 2022 28;13:847321. Epub 2022 Mar 28.

Department of Dermatology and Venereology, The First Affiliated Hospital, Anhui Medical University, Hefei, China.

The Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease, whch is associated with a decrease in the lipolysis activity in multiple tissue cells. The clinical phenotype involves multiple organs and systems, including liver, eyes, ears, skeletal muscle and central nervous system. Mutations in ABHD5/CGI58 gene have been confirmed to be associated with CDS. Read More

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Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.

Pediatr Dermatol 2022 May 12;39(3):420-424. Epub 2022 Apr 12.

Department of Dermatology (Retired), Christian Medical College and Hospital, Vellore, Tamil Nadu, India.

Background: Autosomal recessive congenital ichthyosis (ARCI) refers to non-syndromic ichthyosis caused by mutations in one of the 13 identified genes. There are limited data on the genotype of ARCI and its phenotypic correlation from India.

Objectives: The aim of this study was to characterize the genotype of ARCI among patients from the Indian subcontinent. Read More

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Development of a carbocysteine 10% + urea 5% cream for the topical treatment of congenital ichthyosis.

Farm Hosp 2022 02 14;46(2):51-56. Epub 2022 Feb 14.

Servicio de Farmacia, Complejo Hospitalario Universitario de Pontevedra, Pontevedra. Spain. Instituto de Investigación Sanitaria Galicia Sur, Fundación Biomédica Galicia Sur, Pontevedra. Spain..

Objective: Optimization of a topical formula of N-acetylcysteine and urea for  the topical treatment of ichthyosis.

Method: We reviewed the chemical structure of the N-acetylcysteine molecule  and its metabolic processes. A search was conducted of possible alternative  molecules with a chemical structure similar to that of N-acetylcysteine that  could have improved organoleptic properties. Read More

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February 2022

[Clinical and genetic analysis of a patient with autosomal recessive congenital ichthyosis due to compound heterozygous variants of ALOX12B gene].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2022 Mar;39(3):321-324

Department of Pediatrics, the First Affiliated Hospital of Jinan University, Guangzhou, Guangdong 510630, China.

Objective: To explore the clinical and genetic characteristics of a pediatric patient suspected for Autosomal Recessive Congenital Ichthyosis (ARCI).

Methods: Clinical data of the patient was analyzed. Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA. Read More

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Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis.

Int J Mol Sci 2022 Feb 24;23(5). Epub 2022 Feb 24.

Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia.

Mutations in genes such as transglutaminase-1 (), which are responsible for the formation and normal functioning of a lipid barrier, lead to the development of autosomal recessive congenital ichthyosis (ARCI). ARCIs are characterized by varying degrees of hyperkeratosis and the presence of scales on the body surface since birth. The quality of life of patients is often significantly affected, and in order to alleviate the manifestations of the disease, symptomatic therapy with moisturizers, keratolytics, retinoids and other cosmetic substances is often used to improve the condition of the patients' skin. Read More

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February 2022

Case of ichthyosis with confetti caused by KRT10 mutation, complicated with multiple malignant melanomas.

J Dermatol 2022 07 6;49(7):e228-e229. Epub 2022 Mar 6.

Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

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Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma.

J Eur Acad Dermatol Venereol 2022 Jul 15;36(7):973-986. Epub 2022 Mar 15.

Department of Dermatology, Center of Pediatric Dermatology, Erasmus MC University Medical Center Rotterdam-Sophia Children's Hospital, Rotterdam, The Netherlands.

The broad differential diagnosis of neonatal erythroderma often poses a diagnostic challenge. Mortality of neonatal erythroderma is high due to complications of the erythroderma itself and the occasionally severe and life-threatening underlying disease. Early correct recognition of the underlying cause leads to better treatment and prognosis. Read More

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Understanding immune profiles in ichthyosis may lead to novel therapeutic targets.

Masashi Akiyama

J Allergy Clin Immunol 2022 04 23;149(4):1210-1212. Epub 2022 Feb 23.

Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address:

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Secukinumab responses vary across the spectrum of congenital ichthyosis in adults.

Arch Dermatol Res 2022 Feb 26. Epub 2022 Feb 26.

Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

Importance: Treatment of congenital ichthyoses primarily focuses on reversing skin scaling and is not pathogenesis based. Recent studies showed Th17 immune skewing, as in psoriasis, across the spectrum of ichthyosis, suggesting that targeting this pathway might broadly reduce disease severity.

Objective: To determine whether secukinumab, an IL-17A inhibitor, can improve ichthyosis across several congenital ichthyosis subtypes. Read More

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February 2022

Oral vitamin D versus acitretin in congenital non-syndromic ichthyosis: double blinded, randomized controlled trial.

J Dtsch Dermatol Ges 2022 Mar 26;20(3):297-304. Epub 2022 Feb 26.

Department of Immunopathology, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh, India.

Background: Vitamin D has emerged as a promising treatment for congenital ichthyosis for which no comparative studies exist.

Methodology: In this randomized, double-blinded study, patients with congenital ichthyosis received either Vitamin D 2000 IU/day (group A) or acitretin 0.5 mg/kg/day (group B) for 24 weeks. Read More

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Development and Initial Validation of a Novel System to Assess Ichthyosis Severity.

JAMA Dermatol 2022 04;158(4):359-365

Departments of Dermatology, Pathology and Genetics, Yale University School of Medicine, New Haven, Connecticut.

Importance: A comprehensive, user-friendly system to assess global ichthyosis disease burden is imperative to improving the care of patients with ichthyosis, identifying appropriate participants for clinical trials, and quantifying treatment outcomes. To our knowledge, there is currently no validated scale to objectively and systematically measure ichthyosis severity across the entire body.

Objective: To create and evaluate a comprehensive and user-friendly instrument to measure total body ichthyosis severity in adults and children. Read More

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Ichthyosis Scoring System-A Powerful Tool in the Era of Immune Pathway-Targeted Therapies for Ichthyosis.

Masashi Akiyama

JAMA Dermatol 2022 04;158(4):354-356

Department of Dermatology, Nagoya University Graduate School of Medicine, Tsurumai-cho, Showa-ku, Nagoya, Aichi, Japan.

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Cholesterol sulfate fluidizes the sterol fraction of the stratum corneum lipid phase and increases its permeability.

J Lipid Res 2022 03 7;63(3):100177. Epub 2022 Feb 7.

Institute of Medical Physics and Biophysics, University of Leipzig, Leipzig, Germany. Electronic address:

Desulfation of cholesterol sulfate (CholS) to cholesterol (Chol) is an important event in epidermal homeostasis and necessary for stratum corneum (SC) barrier function. The CholS/Chol ratio decreases during SC maturation but remains high in pathological conditions, such as X-linked ichthyosis, characterized by dry and scaly skin. The aim of this study was to characterize the influence of the CholS/Chol molar ratio on the structure, dynamics, and permeability of SC lipid model mixtures. Read More

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Analysis of the structure and function of the epidermal barrier in patients with ichthyoses-clinical and electron microscopical investigations.

J Eur Acad Dermatol Venereol 2022 May 27;36(5):726-738. Epub 2022 Jan 27.

Institute of Medical Informatics and Statistics, University Hospital Schleswig-Holstein, Kiel, Germany.

Background: Ichthyoses are pathogenetically characterized by a pronounced disorder of the epidermal barrier. Clinically, hyperkeratosis, severe scaling and erythroderma are present on the entire integument. The time-consuming therapy includes daily baths and the application of skin care products to restore the epidermal barrier. Read More

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Whole-exome sequencing identified a novel pathogenic mutation of the CYP4F22 gene in a Chinese patient with autosomal recessive congenital ichthyosis and in vitro study of the mutant CYP4F22 protein.

J Dermatol 2022 May 11;49(5):550-555. Epub 2022 Jan 11.

Department of Medical Genetics and Prenatal Diagnosis, Affiliated Hospital of Weifang Medical University, Weifang, China.

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification disorders. Of the 14 genes already known to cause ARCI, CYP4F22 is a relatively new genetic etiology, the mutation spectrum of which has yet to be profiled. Using whole-exome sequencing in family trios, we identified the compound heterozygous mutations, c. Read More

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DSP missense variant in a Scottish Highland calf with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects.

BMC Vet Res 2022 Jan 7;18(1):20. Epub 2022 Jan 7.

Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.

Background: Ichthyosis describes a localized or generalized hereditary cornification disorder caused by an impaired terminal keratinocyte differentiation resulting in excessive stratum corneum with the formation of more or less adherent scales. Ichthyosis affects humans and animals. Two rare bovine forms are reported, the severe harlequin ichthyosis and the less severe congenital ichthyosis, both characterized by a severe orthokeratotic lamellar hyperkeratosis. Read More

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January 2022