3 citations
,
September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
1 citations
,
January 2022 in “Annals of Dermatology” In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.
36 citations
,
September 2015 in “Orphanet Journal of Rare Diseases” This review discusses ichthyosis with confetti, highlighting its genetic basis, clinical features, diagnostic criteria, and current treatment options but reports no new clinical results.
1 citations
,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
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."
451 citations
,
March 2005 in “Endocrine Reviews” This paper discusses the role of steroid sulfatase in hormone-dependent tumors and highlights the development of potent inhibitors, noting the commencement of a phase I trial for one inhibitor in postmenopausal breast cancer patients.
August 2023 in “Acta Scientific Paediatrics” This case study reported a neonate of Indian descent with localized hypotrichosis type 1 due to a likely pathogenic deletion in the DSG4 gene, marking the first such case from India.
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.
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.
22 citations
,
January 2008 in “Physiological Research” This review discusses the role of steroid sulfatase in steroid hormone metabolism and highlights the need for more research on its expression and regulation, especially regarding hormone-dependent tumors.
August 2024 in “Veterinary Dermatology” This study reported that topical ω‐0‐acylceramide improved skin barrier function in Jack Russell Terriers with TGM1-deficient autosomal recessive congenital ichthyosis, normalizing skin pH and reducing transepidermal water loss.
16 citations
,
October 2014 in “Cell death and disease” This study found that over- and ectopic-expression of FoxN1 in early life negatively affected the development of thymic epithelial cells, T and B cells, and skin epithelial cells.
4 citations
,
October 2005 in “Pediatric Transplantation” This study identified that pediatric transplant recipients experience specific skin changes related to medication use, with unique conditions like ichthyosiform xerosis in kidney recipients and skin scaling with pellagroid appearance in bone marrow recipients.
1 citations
,
October 1996 in “Journal of Cutaneous Medicine and Surgery” This review discusses the advancements needed for gene therapy to become commonly used in dermatology and reports no new clinical results.
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.
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.
175 citations
,
August 1997 in “Nature Genetics” 8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
1 citations
,
January 2013 This study observed that inducible deletion of the Ugcg gene in mouse epidermis led to a significant reduction in GlcCers and epidermal POS-Cers, causing impaired skin barrier function and delayed wound healing.
9 citations
,
June 2024 in “Cell Reports” This study found that hair follicles play a significant role in regulating skin barrier function, with disruptions in the upper hair follicle affecting the epidermis, influencing processes like desquamation and sebum release, and leading to cell movement into the epidermis.
4 citations
,
April 1978 in “PubMed” This case study describes a six-month-old boy diagnosed with Netherton syndrome, featuring ichthyosiform erythroderma and alopecia, possibly linked to aminoaciduria.
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.
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.
2 citations
,
November 2024 in “Acta Dermato Venereologica” In this case report, researchers describe an adult patient with CHILD syndrome whose skin lesions were successfully managed with topical ketoconazole, marking the first known instance of using this treatment without recurrence during follow-up.
2 citations
,
December 2023 in “International journal of molecular sciences” This study reviews the complex keratinization process in the epidermis, detailing how various factors regulate keratinocyte differentiation and emphasizing the importance of understanding this process for the pathogenesis of skin disorders like ichthyoses and psoriasis.
21 citations
,
March 2018 in “American Journal Of Pathology” In this study, it was observed that NIPAL4 mutations linked to autosomal recessive congenital ichthyosis lead to abnormal skin barrier function due to cytotoxic effects disrupting lipid structure and organization, which topical treatments only partially ameliorated.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.
23 citations
,
November 2001 in “Archives of Dermatology” This review discusses recent advances in the genetic understanding of inherited hair and nail disorders and reports no new clinical results.
12 citations
,
February 2008 in “Journal of The American Academy of Dermatology” This review discusses recent advances in molecular genetics and their impact on the accuracy and understanding of diagnosing inherited skin diseases but reports no new results.
36 citations
,
January 2012 in “International Journal of Trichology” This review discusses madarosis, its diverse causes, and suggests follicular unit transplantation as a useful treatment for scarring types, but reports no new clinical results.