Ichthyosis

Gutiérrez-Cerrajero, Carlos; Sprecher, Eli; Paller, Amy S.; Akiyama, Masashi; Mazereeuw‐Hautier, J.; Hernández‐Martín, Ángela; González-Sarmiento, Rogelio

doi:10.1038/s41572-022-00412-3

Cited by 32 publications

(36 citation statements)

References 289 publications

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“…Ichthyoses are a family of over 20 genetic skin diseases characterized by widespread, persistent dry, thick, and “fish-scale-like” skin ( 145 ). The various types of ichthyoses differ in their genetic inheritance pattern (which may be dominant, recessive, X-linked, or spontaneous), disease symptoms, and onset.…”

Section: The Skin Microbiome In Inflammatory Skin Diseasesmentioning

confidence: 99%

Evolving approaches to profiling the microbiome in skin disease

2023

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Despite its harsh and dry environment, human skin is home to diverse microbes, including bacteria, fungi, viruses, and microscopic mites. These microbes form communities that may exist at the skin surface, deeper skin layers, and within microhabitats such as the hair follicle and sweat glands, allowing complex interactions with the host immune system. Imbalances in the skin microbiome, known as dysbiosis, have been linked to various inflammatory skin disorders, including atopic dermatitis, acne, and psoriasis. The roles of abundant commensal bacteria belonging to Staphylococcus and Cutibacterium taxa and the fungi Malassezia, where particular species or strains can benefit the host or cause disease, are increasingly appreciated in skin disorders. Furthermore, recent research suggests that the interactions between microorganisms and the host’s immune system on the skin can have distant and systemic effects on the body, such as on the gut and brain, known as the “skin-gut” or “skin-brain” axes. Studies on the microbiome in skin disease have typically relied on 16S rRNA gene sequencing methods, which cannot provide accurate information about species or strains of microorganisms on the skin. However, advancing technologies, including metagenomics and other functional ‘omic’ approaches, have great potential to provide more comprehensive and detailed information about the skin microbiome in health and disease. Additionally, inter-species and multi-kingdom interactions can cause cascading shifts towards dysbiosis and are crucial but yet-to-be-explored aspects of many skin disorders. Better understanding these complex dynamics will require meta-omic studies complemented with experiments and clinical trials to confirm function. Evolving how we profile the skin microbiome alongside technological advances is essential to exploring such relationships. This review presents the current and emerging methods and their findings for profiling skin microbes to advance our understanding of the microbiome in skin disease.

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Section: The Skin Microbiome In Inflammatory Skin Diseasesmentioning

confidence: 99%

Evolving approaches to profiling the microbiome in skin disease

2023

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“…Commonly mistaken as merely dry skin, IV is semi-dominant (1 in 10 are heterozygotes; greater severity in homozygotes) and results from deficiency in filaggrin, a barrier component that degrades to form natural moisturizing factors. Recessive X-linked ichthyosis (1:1500 males; RXLI) is characterized by larger, dark scales, most notably on the scalp, neck, trunk, and extremities, with typical sparing of face and antecubital and popliteal areas [1 ▪▪ ]. Usually manifesting after birth, RXLI results from deficiency of steroid sulfatase and poor scale desquamation.…”

Section: Presentationmentioning

confidence: 99%

“…Affected babies may have persistent facial disfigurement with ectropion and eclabium, pseudocontractures of the distal extremities, scalp and eyebrow alopecia, and/or nasal and auricular cartilage hypoplasia [5,7]. The spectrum of ARCI ranges from congenital ichthyosiform erythroderma (CIE with erythematous skin and fine scaling, most often from variants in ALOX12B or NIPAL4 , encoding proteins involved in ceramide biosynthesis) to lamellar ichthyosis (LI with large, often dark polygonal scales and variable underlying erythema, most often from variants in TGM1 , encoding transglutaminase 1) [1 ▪▪ ,8]. The most severe form of ARCI, harlequin ichthyosis (HI), results from variants in ABCA12 , encoding a ceramide transporter protein [5,7,9,10].…”

Section: Presentationmentioning

confidence: 99%

“…The ichthyoses include a wide spectrum of genetic disorders of skin maturation that result in a defective skin barrier with abnormal epidermal differentiation [1 ▪▪ ], leading to increased transepidermal water loss (TEWL) [2], cutaneous inflammation, and alterations in the skin microbiome [3]. Patients experience various degrees of erythema, hyperkeratosis and desquamation (Fig.…”

Section: Introductionmentioning

confidence: 99%

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Ichthyosis: presentation and management

Butala

Mazereeuw‐Hautier

Paller

2023

Current Opinion in Pediatrics

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Purpose of review This review focuses on the presentation and management of ichthyoses and highlights recent advances in treatment that hold promise for better targeted therapy. Recent findings The ichthyoses are a group of rare genetic diseases with a wide phenotypic spectrum, characterized most often by generalized hyperkeratosis and scaling with variable erythema. The highly visible scaling and frequent itch contribute to decreased quality of life. Management for ichthyosis focuses on symptomatic relief and scale reduction with emollients, keratolytics, and retinoids. Recent advances in immune profiling and genotype-phenotype mapping have increased understanding of ichthyosis and shifted focus to pathogenesis-based targeted therapies with emerging biologics, small molecular inhibitors, and gene therapy. Summary This article discusses clinical assessment and genotyping to make the diagnosis of specific forms of ichthyosis, provides guidance for management, and reviews new treatment options with systemic agents.

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“…The protein-bound ceramides are formed in a cascade of reactions from sphingoid bases and fatty acids. ARCI-related genes and other skin-affecting genes are involved in many intermediate steps of these reactions [ 14 ]. ABCA12 is a keratinocyte transmembrane lipid transporter protein involved in the transport of lipids in lamellar granules (LG) to the apical surface of granular layer keratinocytes [ 10 ].…”

Section: Introductionmentioning

confidence: 99%

Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

Hotz

Köpp

Bourrat

et al. 2023

Genes

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Autosomal recessive congenital ichthyosis (ARCI) is a non-syndromic congenital disorder of cornification characterized by abnormal scaling of the skin. The three major phenotypes are lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. ARCI is caused by biallelic mutations in ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, PNPLA1, SDR9C7, SULT2B1, and TGM1. The most severe form of ARCI, harlequin ichthyosis, is caused by mutations in ABCA12. Mutations in this gene can also lead to congenital ichthyosiform erythroderma or lamellar ichthyosis. We present a large cohort of 64 patients affected with ARCI carrying biallelic mutations in ABCA12. Our study comprises 34 novel mutations in ABCA12, expanding the mutational spectrum of ABCA12-associated ARCI up to 217 mutations. Within these we found the possible mutational hotspots c.4541G>A, p.(Arg1514His) and c.4139A>G, p.(Asn1380Ser). A correlation of the phenotype with the effect of the genetic mutation on protein function is demonstrated. Loss-of-function mutations on both alleles generally result in harlequin ichthyosis, whereas biallelic missense mutations mainly lead to CIE or LI.

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Ichthyosis

Cited by 32 publications

References 289 publications

Evolving approaches to profiling the microbiome in skin disease

Evolving approaches to profiling the microbiome in skin disease

Ichthyosis: presentation and management

Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

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