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The Journal of Dermatology Mar 2016Inherited ichthyoses are a group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, and often associated with erythroderma. These... (Review)
Review
Inherited ichthyoses are a group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, and often associated with erythroderma. These manifestations are due to mutations in genes mostly involved in skin barrier formation. Inherited ichthyoses consist of non-syndromic ichthyoses and ichthyosis syndromes. Non-syndromic ichthyoses are characterized by the phenotypic expression of the disorder being seen only in the skin. Non-syndromic ichthyoses include ichthyosis vulgaris, recessive X-linked ichthyosis, autosomal recessive congenital ichthyosis, keratinopathic ichthyosis and other forms. This review focuses on updates for each type of non-syndromic ichthyosis, highlighting molecular mechanisms and phenotype/genotype correlations. Included in autosomal recessive congenital ichthyosis are three of the major phenotypes (harlequin ichthyosis, lamellar ichthyosis and congenital ichthyosiform erythroderma) and three of the minor subtypes (self-healing collodion baby, acral self-healing collodion baby and bathing suit ichthyosis). Keratinopathic ichthyosis is proposed as an umbrella term for ichthyoses caused by mutations in keratin genes. Next-generation sequencing technologies have become powerful tools for the diagnosis of inherited ichthyoses and the discovery of their genetic causes. This article reviews the current understanding of molecular pathomechanisms for non-syndromic ichthyoses and explores future perspectives.
Topics: Female; Humans; Hyperkeratosis, Epidermolytic; Ichthyosiform Erythroderma, Congenital; Ichthyosis; Ichthyosis Vulgaris; Ichthyosis, Lamellar; Ichthyosis, X-Linked; Male
PubMed: 26945532
DOI: 10.1111/1346-8138.13243 -
Nature Reviews. Disease Primers Jan 2023The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can be inherited or acquired, and result in defective keratinocyte differentiation... (Review)
Review
The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can be inherited or acquired, and result in defective keratinocyte differentiation and abnormal epidermal barrier formation. The resultant skin barrier dysfunction leads to increased transepidermal water loss and inflammation. Disordered cornification is clinically characterized by skin scaling with various degrees of thickening, desquamation (peeling) and erythema (redness). Regardless of the type of ichthyosis, many patients suffer from itching, recurrent infections, sweating impairment (hypohidrosis) with heat intolerance, and diverse ocular, hearing and nutritional complications that should be monitored periodically. The characteristic clinical features are considered to be a homeostatic attempt to repair the skin barrier, but heterogeneous clinical presentation and imperfect phenotype-genotype correlation hinder diagnosis. An accurate molecular diagnosis is, however, crucial for predicting prognosis and providing appropriate genetic counselling. Most ichthyoses severely affect patient quality of life and, in severe forms, may cause considerable disability and even death. So far, treatment provides only symptomatic relief. It is lifelong, expensive, time-consuming, and often provides disappointing results. A better understanding of the molecular mechanisms that underlie these conditions is essential for designing pathogenesis-driven and patient-tailored innovative therapeutic solutions.
Topics: Humans; Quality of Life; Ichthyosis; Eye; Genetic Association Studies
PubMed: 36658199
DOI: 10.1038/s41572-022-00412-3 -
Orphanet Journal of Rare Diseases Jul 2022Ichthyosis covers a wide spectrum of diseases affecting the cornification of the skin. In recent years, new advances in understanding the pathophysiology of ichthyosis... (Review)
Review
Ichthyosis covers a wide spectrum of diseases affecting the cornification of the skin. In recent years, new advances in understanding the pathophysiology of ichthyosis have been made. This knowledge, combined with constant development of pathogenesis-based therapies, such as protein replacement therapy and gene therapy, are rather promising for patients with inherited skin diseases. Several ongoing trials are investigating the potency of these new approaches and various studies have already been published. Furthermore, a lot of case series report that biological therapeutics are effective treatment options, mainly for Netherton syndrome and autosomal recessive congenital ichthyosis. It is expected that some of these new therapies will prove their efficacy and will be incorporated in the treatment of ichthyosis.
Topics: Humans; Ichthyosis; Netherton Syndrome; Skin; Skin Neoplasms
PubMed: 35840979
DOI: 10.1186/s13023-022-02430-6 -
Current Opinion in Pediatrics Aug 2023This review focuses on the presentation and management of ichthyoses and highlights recent advances in treatment that hold promise for better targeted therapy. (Review)
Review
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.
Topics: Humans; Quality of Life; Ichthyosis; Retinoids; Diagnosis, Differential; Genetic Therapy
PubMed: 37345742
DOI: 10.1097/MOP.0000000000001264 -
Nature Reviews. Disease Primers Jan 2023
Topics: Humans; Ichthyosis; Ichthyosis, Lamellar
PubMed: 36658163
DOI: 10.1038/s41572-023-00419-4 -
Acta Dermato-venereologica Mar 2020The understanding of monogenetic disorders of cornification, including the group of diseases called ichthyoses, has expanded greatly in recent years. Studies of the... (Review)
Review
The understanding of monogenetic disorders of cornification, including the group of diseases called ichthyoses, has expanded greatly in recent years. Studies of the aetiology of more than 50 types of ichthyosis have almost invariably uncovered errors in the biosynthesis of epidermal lipids or structural proteins essential for normal skin barrier function. The barrier abnormality per se may elicit epidermal inflammation, hyperproliferation and hyperkeratosis, potentially contributing to the patient's skin symptoms. Despite this and other new knowledge about pathomechanisms, treatment of ichthyosis often remains unsatisfactory. This review highlights a series of approaches used to elucidate the pathobiology and clinical consequences of different types of ichthyosis, and related diseases with the ultimate goal of finding new and better treatments.
Topics: Drug Development; Epidermis; Genomics; Humans; Ichthyosis; Mutation; Water Loss, Insensible
PubMed: 32147743
DOI: 10.2340/00015555-3433 -
Veterinary Dermatology Dec 2021The stratum corneum (SC), the outermost layer of the epidermis, serves a crucial role in maintaining body hydration and protection from environmental insults. When the... (Review)
Review
The stratum corneum (SC), the outermost layer of the epidermis, serves a crucial role in maintaining body hydration and protection from environmental insults. When the stratum corneum is injured or when the genetic blueprints are flawed, the body is at risk of dehydration, secondary infections and allergen sensitization. Advancements in veterinary dermatology have revealed a wide gamut of disease from relatively benign to lethal that specifically arise from flawed structural proteins, enzymes or lipids needed to create the corneocytes and lipid bilayers of the SC. Some conditions closely mimic their human counterparts while others are unique to the dog. This review will focus on forms of ichthyosis in the dog.
Topics: Animals; Cell Differentiation; Dog Diseases; Dogs; Epidermal Cells; Epidermis; Ichthyosis; Skin
PubMed: 34796560
DOI: 10.1111/vde.13033 -
Skin Therapy Letter Jan 2020The ichthyoses, also termed the disorders of keratinization, are a heterogenous group of skin diseases in which a distinctive horny layer arises secondary to excessive... (Review)
Review
The ichthyoses, also termed the disorders of keratinization, are a heterogenous group of skin diseases in which a distinctive horny layer arises secondary to excessive transepidermal water loss. Although occasionally acquired, the majority of ichthyoses are inherited and can be pinpointed to characteristic genetic mutations. Management depends on disease severity and includes topical agents and lifestyle modifications with or without oral retinoids. Genetic counseling is also an important consideration. This review aims to highlight advances in our understanding of disease pathogenesis as well as the holistic approach necessary to adequately manage ichthyosis patients.
Topics: Dermatologic Agents; Genetic Counseling; Humans; Ichthyosis; Life Style; Mutation; Retinoids; Severity of Illness Index
PubMed: 32023022
DOI: No ID Found -
Journal Der Deutschen Dermatologischen... Mar 2021Inherited ichthyoses are a group of genodermatoses classified as either nonsyndromic or syndromic. Nonsyndromic ichthyoses and keratitis, ichthyosis and deafness (KID)... (Review)
Review
Inherited ichthyoses are a group of genodermatoses classified as either nonsyndromic or syndromic. Nonsyndromic ichthyoses and keratitis, ichthyosis and deafness (KID) syndrome predispose to fungal infection. The diagnosis and treatment of fungal infections underlying ichthyoses are challenging. In this review, we summarize reported cases of ichthyosis with fungal infection over the past 50 years. Atypical manifestations such as alopecia, papules and brittle nails occurred in patients with ichthyosis combined with fungal infection. Various pathogenic mechanisms have been implicated, including mutations of ichthyosis-related genes leading to disruption of the skin barrier via multiple pathways. Host immune disorders, including atopy and abnormal innate immunity also contribute to susceptibility. Specific fungi may escape the immune response. Extensive and recurrent fungal infections are not uncommon in patients with ichthyosis, making a cure more difficult and increasing the need for systemic antifungal therapy. Traditional and new ichthyosis treatments aiming to improve skin barrier function could help prevent fungal infection. In conclusion, the close relationship between ichthyosis and fungal infection is of vital importance in clinical practice and requires more attention from physicians. More studies are required to investigate the mechanisms and explore useful treatment strategies.
Topics: Humans; Ichthyosis; Ichthyosis, Lamellar; Keratitis; Mutation; Mycoses
PubMed: 33448147
DOI: 10.1111/ddg.14389 -
International Journal of Pediatric... Oct 2023Ichthyoses are a rare group of keratinization disorders characterized by scaling of the skin due to an impaired barrier function. Few studies have addressed ear... (Review)
Review
BACKGROUND
Ichthyoses are a rare group of keratinization disorders characterized by scaling of the skin due to an impaired barrier function. Few studies have addressed ear involvement in patients with ichthyosis, although it is a probably underestimated aspect of the disease.
OBJECTIVE
This study aims to provide an overview of the otological manifestations in ichthyosis and propose specific treatment options.
METHODS
Articles were collected using PubMed, EMBASE, and Web of Science. A total of 53 articles were included in this literature review.
RESULTS
The most common ear problem in patients with ichthyosis is scale accumulation in the ear canals, which can lead to conductive hearing loss and increases the risk of ear infections. Furthermore, some types of ichthyosis are associated with outer ear malformations. Lastly, sensorineural hearing loss is common in syndromic forms of ichthyosis.
CONCLUSIONS
Otological problems are present in all types of ichthyoses and their treatment is challenging. The involvement of ear, nose, and throat specialists in the routine care of ichthyosis patients is essential for early identification and treatment of these manifestations. More research is needed to provide more insight into the otological problems in ichthyosis and to ameliorate treatment options.
Topics: Humans; Ichthyosis; Skin; Hearing Loss, Conductive; Hearing Loss, Sensorineural; Neck
PubMed: 37714023
DOI: 10.1016/j.ijporl.2023.111714