1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” This research re-analyzed single-cell gene expression data from a mouse model, confirming that certain genes involved in the EDA-EDAR and WNT pathways are crucial for skin appendage development, suggesting that their restoration may mitigate the effects of hypohidrotic ectodermal dysplasia in children.
12 citations
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December 2020 in “Archives animal breeding/Archiv für Tierzucht” This study found that EDA and EDAR are expressed throughout cashmere goat fetal development and play a critical role in hair follicle formation by influencing gene expression in fibroblasts and epithelial cells.
This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.
This study identified novel mutations associated with ectodermal dysplasias in Pakistani families, including a missense mutation in the KRTHB5 gene linked to pure hair-nail ectodermal dysplasias and mutations in the EDAR gene related to hypohidrotic ectodermal dysplasia.
February 2009 in “Journal of The American Academy of Dermatology” The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
19 citations
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June 2011 in “British Journal of Dermatology” Severe digestive issues in DRESS need early endoscopy for better treatment.
June 2026 in “Scholarly review .” This review discusses the impact of endocrine-disrupting chemicals on pediatric health, linking them to various disorders, and calls for improved biomonitoring strategies and precautionary policies.
July 2021 in “British Journal of Dermatology” This report describes a boy with ectodermal dysplasias who was genetically diagnosed due to newly discovered TSPEAR gene variants, which have now been associated with this condition.
October 2023 in “Pediatric dermatology” This study found that Middle Eastern patients with epidermolysis bullosa show specific correlations between their genetic variants and clinical features, which may aid in diagnosis and genetic counseling.
8 citations
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January 2019 in “JAAD Case Reports” This article describes erosive pustular dermatosis of the scalp, emphasizing its chronic nature, potential complications, and the lack of specific diagnostic findings, but reports no new clinical results.
June 2025 in “Preprints.org” This review examines the complex role of the Ectodysplasin-A pathway in skeletal morphogenesis, emphasizing its interaction with other key signaling pathways, and reports no new experimental findings.
208 citations
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November 2000 in “Development” This study found that while Eda and Edar proteins interact in vitro, their roles in dental development differ, with downless mutant mice showing distinct tooth defects compared to tabby mutants.
10 citations
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November 2017 in “Skin Appendage Disorders” This series of eight North American patients with erosive pustular dermatosis of the scalp suggests that factors like immunosenescence and ultraviolet damage may contribute to the condition's development.
April 2025 in “Dermatology Practical & Conceptual” This study found that erosive pustular dermatosis of the scalp is frequently misdiagnosed as squamous cell carcinoma, highlighting the need for careful differentiation to avoid unnecessary treatments.
February 2025 in “Journal of the European Academy of Dermatology and Venereology” This study found that epidermal growth factor receptor inhibitors can induce erosive pustular dermatosis of the scalp, typically appearing sooner and affecting the scalp more extensively compared to other triggers.
117 citations
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April 2008 in “Developmental biology” This study identified that Eda-A1 unexpectedly induces placode inhibitors dkk4 and lrp4, indicating the importance of tightly regulated signaling for proper ectodermal organ development.
37 citations
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June 2002 in “The Laryngoscope” This study describes the otolaryngologic manifestations and multidisciplinary management strategies for 12 patients with ectodermal dysplasia, emphasizing the importance of early recognition for effective treatment.
249 citations
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May 2003 in “Developmental Biology” Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
April 2025 in “Dermatology Practical & Conceptual” This study found that erosive pustular dermatosis of the scalp is often misdiagnosed as squamous cell carcinoma, highlighting the importance of biopsy for accurate diagnosis.
39 citations
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January 2016 in “PubMed” This review discusses the role of epidermal differentiation complex genes and epigenetic mechanisms in skin development and certain diseases, emphasizing their potential for improving drug development and delivery systems but provides no new experimental results.
5 citations
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September 2015 in “BMC Medical Genetics” In this study, individuals with a c.1072C > T mutation in the EDAR gene showed more hair shaft deformations compared to non-mutation carriers, highlighting EDAR's role in hair follicle development.
87 citations
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March 2017 in “Journal of Clinical Investigation” In this study, researchers identified PSENEN mutations that can lead to a form of Dowling-Degos disease, characterized by follicular hyperkeratosis and an increased susceptibility to acne inversa, especially in the presence of certain trigger factors.
14 citations
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April 2020 in “Journal of the American Academy of Dermatology” Viral reactivation is rare at the time of DRESS diagnosis in the U.S.
157 citations
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September 2012 in “Journal of the American Academy of Dermatology” In this retrospective cohort study, researchers reported that 11.5% of patients with DRESS developed significant long-term autoimmune or renal sequelae, with age influencing the type of sequelae observed.
February 2020 in “International Journal of Research in Dermatology” This study emphasizes that erosive pustular dermatosis of the scalp is an underrecognized condition, and increased awareness and diagnosis can improve patient outcomes by preventing further scalp damage.
1 citations
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June 2023 in “Medicina” In this study, all 26 patients with epidermolysis bullosa were found to have extensive dental caries, with various dental and oral complications varying by EB type, due in part to inadequate oral care and associated physical limitations.
13 citations
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September 2019 in “Clinical, Cosmetic and Investigational Dermatology” This review discusses the complex nature of erosive pustular dermatosis of the scalp, highlighting the challenges in diagnosis and management, and reports no new clinical findings.
2 citations
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April 2018 in “Journal of Investigative Dermatology” This study defines two types of RDEB wounds, chronic open and recurrent, and finds that patient self-reports on wound size correlate well with investigator measurements when complemented by serial photography.
1 citations
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November 2025 in “Aging Cell” This review discusses the role of the ectodysplasin A2 receptor as a biomarker and driver of ageing related to inflammation, and its potential therapeutic implications, but reports no new clinical findings.
12 citations
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December 2022 in “Frontiers in Bioscience-Landmark” This review discusses the physiological roles of the epidermal differentiation complex and its potential involvement in psoriasis, but it reports no new experimental findings.