18 citations
,
January 2020 in “Acta dermato-venereologica” This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.
9 citations
,
March 2015 in “International reviews of immunology” This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.
16 citations
,
March 2005 in “Journal of The American Academy of Dermatology” This report describes a case of Birt-Hogg-Dube syndrome with manifestations including multiple fibrofolliculomas, acrochordons, and renal oncocytoma.
June 2008 in “Springer eBooks” The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
101 citations
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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.
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 2026 in “International Journal of Science and Research (IJSR)” This source discusses ichthyosis, a disorder causing dry, scaly skin, by exploring its genetic causes, potential systemic associations, and treatments, and correlates modern medical insights with Unani medicine principles focused on humoral balance and holistic care.
99 citations
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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.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
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.
35 citations
,
January 2011 in “Journal of Biological Chemistry” This study found that overexpression of sPLA2-X in mice was associated with alopecia and hair follicle abnormalities, highlighting its potential role in hair follicle homeostasis.
97 citations
,
March 2006 in “Journal of Investigative Dermatology” This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.
6 citations
,
July 2020 in “Photodermatology Photoimmunology & Photomedicine” This review discusses the link between various skin diseases, such as ichthyosis and psoriasis, and the occurrence of rickets, though no new clinical results were reported.
1 citations
,
July 2021 in “IntechOpen eBooks” This review discusses unspecific factors involved in the pathogenesis of skin diseases and potential ways cytokeratin changes might alleviate these conditions, but reports no new clinical results.
41 citations
,
November 2011 in “The Journal of Dermatology” This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.
12 citations
,
June 2016 in “Reviews in Endocrine and Metabolic Disorders” This review discusses various genetic and acquired skin diseases that can affect male fertility, highlighting the clinical management challenges and reports no new research findings.
8 citations
,
March 2023 in “British Journal of Dermatology” This review highlights the significant role of next-generation sequencing in uncovering the genetic basis of hair disorders, identifying 28 nonsyndromic conditions linked to specific genes.
13 citations
,
July 2012 in “International Journal of Trichology” In this study, the varied phenotype of trichothiodystrophy was highlighted, with findings of distinctive hair shaft abnormalities and a wide range of multisystem issues, including neurologic and urologic disorders.
25 citations
,
August 2017 in “Frontiers in Zoology” In this study, the researchers reported extensive gene loss and high pseudogenization rates of α-keratin genes in cetaceans compared to terrestrial mammals, likely linked to hair loss and aquatic adaptations.
28 citations
,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” This article reviews phenotypic variability linked to WNT10A nonsense mutations and does not present new research findings.
4 citations
,
September 2004 in “Experimental Dermatology” This review discusses the role of connexin mutations in various human disorders, highlighting their impact on ectodermal epithelial phenotypes like hearing loss and skin abnormalities, but it presents no new clinical findings.
81 citations
,
June 2012 in “European journal of human genetics” This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no new clinical results.
14 citations
,
December 2010 in “Journal of human genetics” This study identified a severe MBTPS2 gene mutation in a Japanese patient with IFAP syndrome, suggesting other factors may influence the varied clinical severity of the condition.
1 citations
,
January 2019 in “International Journal of Medical Reviews and Case Reports” This case report describes a 10-year-old girl with lamellar ichthyosis who showed marked improvement in scaling and skin stiffness after six weeks of treatment with emollient and supportive therapy.
February 2010 in “Journal of The American Academy of Dermatology” Surgery on a baby with a skin disorder improved eyelid position and eye health.
66 citations
,
June 2018 in “British Journal of Dermatology” These guidelines review the management of complications and specific forms of congenital ichthyosis and report no new results; they summarize expert and evidence-based recommendations for clinicians.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” In this report, a unique female presentation of IFAP syndrome is described, featuring musculoskeletal contractures but no photophobia, highlighting the importance of early detection and multidisciplinary care to improve outcomes and prevent disability.
47 citations
,
March 2016 in “Journal of dermatology” This review discusses various rare syndromes associated with ichthyosis and emphasizes the importance of understanding their molecular genetics and mechanisms for developing effective treatments and genetic counseling, but it reports no new clinical findings.
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.
55 citations
,
November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.