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.
23 citations
,
December 2013 in “British Journal of Dermatology” This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
16 citations
,
September 2015 in “International Journal of Molecular Sciences” In this study, a genetic analysis identified a pathogenic variant in the ALOXE3 gene associated with non-bullous congenital ichthyosiform erythroderma, and the patient's response to antifungal treatment highlights the risk of cutaneous fungal infections.
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.
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.
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.
August 2024 in “International Journal of Women’s Dermatology” This study characterizes alopecia in ARCI, highlighting its prevalence among patients with severe forms and revealing new associated trichoscopic features.
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.
16 citations
,
January 2000 in “Dermatology” This study found that men with X-linked recessive ichthyosis did not show mutual exclusivity with androgenetic alopecia, as some exhibited advanced hair loss.
9 citations
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January 1999 in “Dermatology” This hypothesis paper proposes that men with X-linked recessive ichthyosis may exhibit no androgenetic alopecia or only mild forms, and suggests clinical studies to evaluate this hypothesis.
8 citations
,
September 1987 in “Acta Dermato Venereologica” In this study, the researchers used structural studies and molecular calculations to suggest that the enzyme in RXLI patient hair follicles is less efficient, rather than completely inactive.
7 citations
,
March 2012 in “European Journal of Pediatrics” This case report describes a 4.5-year-old boy with steroid-resistant nephrotic syndrome linked to X-linked recessive ichthyosis, where remission was achieved using cyclosporine, suggesting STS deficiency as a potential genetic cause of the condition.
6 citations
,
January 2003 in “Dermatology” This study reviewed 26 cases of X-linked recessive ichthyosis and observed 11 patients with advanced-stage androgenetic alopecia, suggesting a compensatory role of two steroid biosynthesis pathways.
5 citations
,
May 2018 in “Veterinary dermatology” This study found that a gluconolactone-based shampoo and lotion significantly reduced skin scaling in golden retrievers with autosomal recessive congenital ichthyosis.
3 citations
,
September 2016 in “Pediatric Dermatology” This case study reports that hypertrichosis, although not always present, may be an important diagnostic clue for superficial epidermolytic ichthyosis in a young child.
1 citations
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December 2016 in “Revista română de medicină de laborator” This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.
November 2024 in “Journal of Investigative Dermatology” This study found that scarring alopecia is common in autosomal recessive congenital ichthyosis patients and significantly correlates with the disease's severity, highlighting the need for thorough hair evaluations in clinical management.
April 2024 in “Institutional Repositories DataBase (IRDB)” This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.
1 citations
,
October 2015 in “Actas Dermo-Sifiliográficas” 3 citations
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August 2024 in “Dermatology and Therapy” This review highlights preclinical and clinical advancements in gene and cell therapies for epidermolysis bullosa and ichthyosis, noting a recently FDA-approved gene therapy for recessive dystrophic EB.
1 citations
,
December 2020 in “Acta dermato-venereologica” Some scalp sores are linked to different inherited skin conditions.
April 2017 in “Journal of Investigative Dermatology” This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.
124 citations
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January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This article reports a case of Netherton's syndrome that responded to 12% ammonium lactate lotion, suggesting potential treatment benefits for skin and allergic symptoms in this rare condition.
96 citations
,
August 1995 in “Bone” This article reviews the essential role of vitamin D in bone health and its various clinical applications but reports no new clinical findings.
52 citations
,
June 1981 in “International Journal of Dermatology” Oral retinoids are effective for severe skin conditions but require careful use due to side effects.
44 citations
,
January 2004 in “American journal of clinical dermatology” This review covers various disorders of cornification and their treatments, offering clinical insights but reporting no new research findings.
40 citations
,
July 2019 in “Journal of Investigative Dermatology” In this study, knockout mice lacking the Cyp4f39 gene showed severe skin barrier dysfunction and high early mortality, suggesting its critical role in skin barrier formation and insights into ichthyosis pathogenesis.
26 citations
,
March 2014 in “Journal of cutaneous medicine and surgery” This study provides evidence-based recommendations for the off-label use of topical vitamin D in treating certain skin conditions, but highlights the need for higher quality studies for further validation.
25 citations
,
January 2004 in “The International Journal of Developmental Biology” This review discusses the molecular mechanisms involved in hair and epidermal development, highlighting how studies on human inherited diseases and mouse models have deepened our understanding; it reports no new results.