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Indian Pediatrics Apr 2024
Topics: Humans; Ichthyosis, Lamellar; Phenotype
PubMed: 38419281
DOI: No ID Found -
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 -
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 -
Journal Der Deutschen Dermatologischen... Apr 2016
Topics: Dermatitis, Exfoliative; Diagnosis, Differential; Humans; Ichthyosiform Erythroderma, Congenital; Ichthyosis; Infant, Newborn; Infant, Premature, Diseases; Male
PubMed: 26972371
DOI: 10.1111/ddg.12862 -
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 -
Indian Journal of Dermatology,... 2022
Review
Topics: Acantholysis; Diagnosis, Differential; Humans; Ichthyosis; Skin; Skin Diseases
PubMed: 34245536
DOI: 10.25259/IJDVL_1028_20 -
BMJ Case Reports Feb 2021
Topics: Humans; Hyperkeratosis, Epidermolytic; Skin
PubMed: 33602779
DOI: 10.1136/bcr-2020-240424 -
Current Problems in Dermatology 2016The skin barrier, formed by the stratum corneum, envelops our bodies and provides an essential protective function. However, this barrier function differs between... (Review)
Review
The skin barrier, formed by the stratum corneum, envelops our bodies and provides an essential protective function. However, this barrier function differs between individuals due to biological variation. This variation arises as a result of inherited genetic variants, negative environmental or extrinsic factors, and age. A multitude of genetic changes determine a person's predisposition to a skin barrier defect and consequently their risk of developing a dry skin condition, such as atopic dermatitis. Extrinsic factors, including the weather and detrimental skin care practices, interact with these genetic changes to determine the severity of the defect and additively increase the risk of developing dry skin conditions. How these dry skin conditions present clinically, and how they persist and progress depends very much on a person's age. Understanding how the skin barrier varies between individuals, how it differs based on clinical presentation, and how it alters with age is important in developing optimum therapies to maintain healthy skin that provides the best protection.
Topics: Aging; Dermatitis, Atopic; Humans; Ichthyosis; Skin; Skin Diseases; Skin Physiological Phenomena; Water; Water Loss, Insensible
PubMed: 26844897
DOI: 10.1159/000441545 -
Current Opinion in Pediatrics Aug 2015In 2010, a new classification of the congenital ichthyoses was published. At the time, the causative genes were known in many but not all instances. The goal of this... (Review)
Review
PURPOSE OF REVIEW
In 2010, a new classification of the congenital ichthyoses was published. At the time, the causative genes were known in many but not all instances. The goal of this review is to provide an update on molecular and clinical findings in congenital ichthyosis and to revise evidence-based and emerging treatments.
RECENT FINDINGS
Mutations in genes encoding for desmosomal components have recently been shown to cause three clinically overlapping entities: peeling skin disease; severe dermatitis, multiple allergies and metabolic wasting syndrome; and Netherton syndrome. Mutations in keratin 10 have been identified as the cause of ichthyosis with confetti, a rare form of ichthyosis characterized by severe erythroderma in which healthy spots gradually develop since childhood. There is no curative treatment for the congenital ichthyoses. A recent systematic review of randomized clinical trials of ichthyosis treatments revealed that research evidence of therapy is poor.
SUMMARY
The expanding phenotype and genotype of the ichthyoses facilitates accurate clinical diagnosis and permits a deeper knowledge of the epidermal pathophysiology. Although curative treatment is yet to come, N-acetylcysteine has recently been added to the therapeutic armamentarium and topical enzyme replacement therapy has emerged as a promising alternative in TG1-deficient individuals.
Topics: Administration, Topical; Cysteine; Dermatologic Agents; Gene Expression Regulation; Genes, Dominant; Genes, Recessive; Genetic Predisposition to Disease; Genetic Therapy; Humans; Ichthyosiform Erythroderma, Congenital; Mutation; Phenotype; Practice Guidelines as Topic; Randomized Controlled Trials as Topic
PubMed: 26164154
DOI: 10.1097/MOP.0000000000000239 -
Human Genetics Oct 2023DBR1 encodes the only known human lariat debranching enzyme and its deficiency has been found to cause an autosomal recessive inborn error of immunity characterized by...
DBR1 encodes the only known human lariat debranching enzyme and its deficiency has been found to cause an autosomal recessive inborn error of immunity characterized by pediatric brainstem viral-induced encephalitis (MIM 619441). We describe a distinct allelic disorder caused by a founder recessive DBR1 variant in four families (DBR1(NM_016216.4):c.200A > G (p.Tyr67Cys)). Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life. Patient-derived fibroblasts displayed the characteristic accumulation of intron lariats in their RNA as revealed by targeted and untargeted analysis, in addition to a marked reduction of DBR1 on immunoblot analysis. We propose a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility and highlight the apparent lack of correlation with the degree of DBR1 deficiency.
Topics: Child; Humans; Alleles; Causality; Encephalitis; Fibroblasts; Ichthyosis
PubMed: 37656279
DOI: 10.1007/s00439-023-02597-3