March 2022 in “Journal of South Asian Association of Pediatric Dentistry” This case report discusses dental considerations and management strategies for a 7-year-old girl with Ichthyosis Vulgaris; it presents no new clinical results and suggests early preventive therapies.
6 citations
,
July 2011 in “British Journal of Dermatology” This paper reports a case of sebaceous carcinoma developing at the site of chronic candidiasis in a patient with keratitis–ichthyosis–deafness syndrome, without presenting new generalizable findings.
This case report describes a rare instance of familial congenital atrichia in a 16-year-old girl, possibly involving a genetic component, as both her parents exhibit similar clinical features.
87 citations
,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” This paper discusses X-linked ichthyosis and its genetic causes, focusing on biochemical pathways and their role in epidermal differentiation and barrier function, but it presents no new clinical findings.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.
1 citations
,
June 2017 in “Veterinary dermatology” This case report describes a presumptive case of ichthyosis fetalis in a cross-bred lamb and highlights the need for this rare condition in sheep to be considered by veterinarians in the differential diagnosis of dermatopathies.
5 citations
,
May 2011 in “European Journal of Medical Genetics” This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.
November 2023 in “Frontiers in pharmacology” This review highlights the ongoing need for novel treatments for autosomal recessive congenital ichthyoses, suggesting that drug repositioning, utilizing existing medications or biologics, could provide more affordable and effective options for managing this lifelong skin condition.
1 citations
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November 2013 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” This article reviews the presentations from the First Symposium of Ichthyosis Experts in Spain, held to address the challenges in organizing care for ichthyosis patients, and reports no new clinical results.
130 citations
,
April 2001 in “Journal of Investigative Dermatology” This study reports the first keratin gene mutation affecting the tail domain, leading to a unique cytoskeletal abnormality and severe epidermal hyperkeratosis, highlighting the tail domain's critical role in keratin organization.
101 citations
,
October 2007 in “Journal of Biological Chemistry” This study indicates that reduced activity of the matriptase-prostasin proteolytic cascade is likely the cause of human autosomal recessive ichthyosis with hypotrichosis, as demonstrated using a novel mouse model.
21 citations
,
July 2022 in “Orphanet journal of rare diseases” This review discusses recent advancements in therapies for ichthyosis, highlighting promising prospects in protein replacement and gene therapy, but it reports no new clinical results.
6 citations
,
January 2022 in “BMC Medical Genomics” This study identified eight mutations in five genes associated with different aspects of ichthyosis among Tunisian patients, enhancing understanding of its genetic and clinical diversity.
2 citations
,
August 2024 in “Preprints.org” This case study reports a potential link between ichthyosis and scalp paresthesia, noting that fluocinolone, a synthetic corticosteroid, was effective in reducing paresthesia episodes, suggesting its possible role in the symptomatic treatment of this condition.
March 2023 in “JAAD case reports” This article reviews the genetic foundations of keratins in maintaining epithelial tissue integrity and links specific keratin variants to diverse ichthyosis forms, without presenting new clinical findings.
January 2015 in “Springer eBooks” Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
August 2025 in “Biomedicines” In this case report, half-siblings with bullous congenital ichthyosiform erythroderma were found to have a susceptibility to Trichophyton rubrum infection, successfully treated with oral terbinafine.
27 citations
,
July 1997 in “PubMed” This study suggests that the harlequin ichthyosis mouse model closely resembles human type 2 harlequin ichthyosis, indicating its potential as a useful model for studying the human condition.
22 citations
,
September 2014 in “JAMA dermatology” This study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.
January 1982 in “Journal of The American Academy of Dermatology” Experts discussed treatments for skin conditions in children, emphasizing hydration, cautious medication use, and early intervention for infections.
3 citations
,
September 2005 in “Experimental dermatology” This review discusses the formation and structure of the cornified cell envelope in the epidermis, highlighting biochemical pathways and genetic factors, but presents no new experimental results.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” This manuscript describes two case reports of preterm newborns with a rare homozygous mutation in the epidermal growth factor receptor, leading to severe health issues and early mortality despite supportive care.
1 citations
,
October 2025 in “Journal of Dermatological Treatment” This case study reported that Dupilumab treatment improved eczema, itch, and hair condition in a girl with Netherton Syndrome, as shown by over 40% improvement in various dermatological scores; however, significant flares of ichthyosis linearis circumflexa persisted.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
99 citations
,
October 2008 in “Journal of Investigative Dermatology” This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.
March 2023 in “International journal of integrated medical research” This article discusses keratosis pilaris, a common skin condition often considered a normal variant, and reviews its associations, progression, and available treatments without reporting new clinical results.
14 citations
,
March 2014 in “Journal of The American Academy of Dermatology” In this study, symmetrical acrokeratoderma was observed to frequently occur alongside ichthyosis vulgaris, with no specific therapy available for the condition.
7 citations
,
February 2019 in “Veterinary medicine and science” This study reports the first identification of the deleterious NIPAL 4 variant, associated with autosomal recessive congenital ichthyosis, in an American Bully and describes its clinical management and follow-up.