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Archives of Dermatological Research May 2020Inherited ichthyoses are a group of etiologically heterogeneous diseases that affect the function of the skin and that are classified as syndromic and non-syndromic... (Review)
Review
Inherited ichthyoses are a group of etiologically heterogeneous diseases that affect the function of the skin and that are classified as syndromic and non-syndromic entities. Irrespective of the type, all these disorders are generally produced by mutations in genes involved in a variety of cellular functions in the skin. These mutations lead to disruption of the stratum corneum and impairment of the skin barrier, producing clinical features such as hyperkeratosis, skin scaling, erythema, fissures, pruritus, inflammation, and skin pain. Despite advances in the knowledge of the pathogenesis of ichthyoses, there is, to our knowledge, no definitive cure for skin manifestations, and current treatments consist of moisturizers, emollients, and keratolytic agents. In this respect, the development of new formulations based on nanotechnology could be useful to enhance their therapeutic effectiveness. In this article, we provide a comprehensive description of pharmacological treatments for cutaneous manifestations in patients with inherited ichthyosis and discuss novel approaches with therapeutic potential for this purpose. Moreover, we offer an overview of toxicity concerns related to these treatments.
Topics: Administration, Cutaneous; Administration, Oral; Dermatologic Agents; Drug Therapy, Combination; Emollients; Humans; Ichthyosis; Keratolytic Agents; Mutation; Retinoids; Skin; Water Loss, Insensible
PubMed: 31624898
DOI: 10.1007/s00403-019-01994-x -
Transfusion Feb 2022
Review
Topics: Blood Banks; Blood Donors; Donor Selection; Humans; Ichthyosis
PubMed: 35037716
DOI: 10.1111/trf.16793 -
The Journal of Dermatological Treatment Dec 2024In dry skin (DS), skin-barrier function is easily disturbed and moisturizing factors in the stratum corneum are reduced. Despite being a common condition, DS is often... (Review)
Review
In dry skin (DS), skin-barrier function is easily disturbed and moisturizing factors in the stratum corneum are reduced. Despite being a common condition, DS is often overlooked in patients with advanced age or comorbid diseases. In September 2022, specialists in dermatology and skin care met to discuss unmet needs and management of patients with DS with existing medical conditions or DS induced by ongoing pharmacological treatments. There was consensus about the need to improve the current understanding and management of DS in patients with comorbidities, including type 2 diabetes, chronic kidney disease, radiodermatitis, and photodamaged skin. Clinical guidance related to optimal treatment of DS in patients with advanced age or comorbid diseases is needed. Dexpanthenol-containing emollients have been shown to provide rapid relief from the symptoms and clinical signs of skin inflammation and are well-tolerated and effective in terms of moisturizing and soothing DS and maintaining skin-barrier function. Thus, dexpanthenol-containing emollients may play an important role in future management of DS. Further research is needed to elucidate the efficacy of dexpanthenol across the spectrum of DS, irrespective of comorbidity status or age.
Topics: Humans; Emollients; Diabetes Mellitus, Type 2; Ichthyosis; Pharmaceutical Vehicles; Comorbidity; Pantothenic Acid
PubMed: 38565198
DOI: 10.1080/09546634.2024.2326171 -
Clinics in Dermatology 2022Autosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous category of nonsyndromic ichthyosis. Nail changes in ARCI are generally... (Review)
Review
Autosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous category of nonsyndromic ichthyosis. Nail changes in ARCI are generally frequent but have been rarely reported and studied in the literature. This stimulated us to conduct a study to describe nail changes in ARCI using a combined literature review and prospective examination from March 2019 to August 2019 (6 months) in the Dermatology Department of Habib Thameur Hospital, Tunis, Tunisia. A total of 25 patients with ARCI had a clinical and dermatoscopic review. The mean age was 19.8 years (range, 1-43), with a female predominance (17 women [68%] and 8 men [32%]). Seventy-two percent had nail unit changes involving more than one nail, none had single nail disease, 64% had involvement of fingernails, and 68% had involvement of toenails, with cases including periungual hyperkeratosis (64%), xanthonychia (40%), pachyonychia (40%), macrolunula (36%), digital clubbing (32%), and onychomycosis (24%). Rarer findings included pseudoainhum, transverse leukonychia, longitudinal melanonychia, and subungual hemorrhages, each in one patient (4%). There was a statistically significant increased frequency of nail changes in adults over children (P = .001). Nail abnormalities statistically associated with ARCI were macrolunula, periungual hyperkeratosis, xanthonychia, and pachyonychia. A comprehensive review of the literature was performed, creating the first comprehensive review addressing nail disease in ARCI.
Topics: Adult; Child; Female; Humans; Ichthyosis; Ichthyosis, Lamellar; Male; Nail Diseases; Nails; Nails, Malformed; Prospective Studies; Young Adult
PubMed: 35181410
DOI: 10.1016/j.clindermatol.2022.02.012 -
Liver International : Official Journal... May 2021The Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease. This syndrome is associated with a decrease in the lipolysis activity in... (Review)
Review
The Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease. This syndrome is associated with a decrease in the lipolysis activity in multiple tissue cells because of recessive mutations in the abhydrolase domain containing 5 (ABHD5) gene, which leads to the accumulation of lipid droplets in multiple types of cells. Major clinical symptoms in patients with CDS include ichthyosis and intracytoplasmic lipid droplets. The variability of clinical symptoms in patients with CDS depends on a large number of mutations involved. In this syndrome, liver involvement is an important cause of mortality and morbidity. This review aims to summarize the demographic characteristic, clinical symptoms, liver involvement and mutations in CDS patients in the literature to date.
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Humans; Ichthyosiform Erythroderma, Congenital; Lipid Metabolism, Inborn Errors; Muscular Diseases
PubMed: 33455044
DOI: 10.1111/liv.14794 -
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 -
Indian Pediatrics Apr 2024
Topics: Humans; Ichthyosis, Lamellar; Phenotype
PubMed: 38419281
DOI: No ID Found -
International Journal of Molecular... Oct 2019Claudins are key components of the tight junction, sealing the paracellular cleft or composing size-, charge- and water-selective paracellular channels. Claudin-10... (Review)
Review
Claudins are key components of the tight junction, sealing the paracellular cleft or composing size-, charge- and water-selective paracellular channels. Claudin-10 occurs in two major isoforms, claudin-10a and claudin-10b, which constitute paracellular anion or cation channels, respectively. For several years after the discovery of claudin-10, its functional relevance in men has remained elusive. Within the past two years, several studies appeared, describing patients with different pathogenic variants of the gene. Patients presented with dysfunction of kidney, exocrine glands and skin. This review summarizes and compares the recently published studies reporting on a novel autosomal-recessive disorder based on claudin-10 mutations.
Topics: Claudins; Genetic Predisposition to Disease; Humans; Hypohidrosis; Ichthyosis; Kidney Diseases; Lacrimal Apparatus Diseases; Mutation; Protein Domains; Xerostomia
PubMed: 31671507
DOI: 10.3390/ijms20215396 -
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 -
Handbook of Experimental Pharmacology 2020Acute and chronic inflammatory skin diseases are frequent in childhood and may be hereditary or acquired. In this context, ichthyosis is rather a symptom than a defined...
Acute and chronic inflammatory skin diseases are frequent in childhood and may be hereditary or acquired. In this context, ichthyosis is rather a symptom than a defined disease as scaling is accompanying a number of disorders and is mostly consequence of a disrupted skin barrier. Ichthyosis is the basic pathogenic trait of atopic dermatitis but on the other side describes a group of rare hereditary diseases. These may only affect the skin or comprise several internal symptoms as well. Psoriasis is another scaling inflammatory skin disease with classical sharply demarcated erythematosquamous plaques and with a distinct immunogenetic background. It comprises several clinical subsets, some of which are characteristic for children and demanding in both diagnostics and therapy. Comorbid diseases point towards a systemic inflammatory response and require ample, often systemic treatment. Both ichthyosis and psoriasis may be topically treated including emollients with and without humectants as well as active agents like corticosteroids, vitamin D derivatives, and calcineurin inhibitors. In moderate to severe diseases, systemic treatment should be applied using methotrexate, ciclosporin, fumarates, or biologics. Their use should be critically discussed yet if necessary and indicated be applied to avoid chronic physical and psychological damage to the affected children.
Topics: Child; Dermatitis, Atopic; Dermatology; Emollients; Humans; Ichthyosis; Psoriasis
PubMed: 32006258
DOI: 10.1007/164_2019_345