189 citations
,
July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” This review discusses how research on keratin biology has enhanced the understanding of epidermolysis bullosa simplex and indicates potential new therapeutic approaches, but it presents no new experimental results.
95 citations
,
September 2012 in “Oman Medical Journal” This review discusses the structure, types, and distribution of keratins and their role in tissue fragility disorders, particularly within the oral cavity, without presenting new clinical findings.
March 2026 in “Experimental Dermatology” This study developed an in vitro model using NTERT keratinocytes expressing AEC-related TP63 mutations, which replicated skin defects observed in AEC patients and offers a valuable tool for understanding the disorder and developing new treatments.
This chapter reviews various fungal skin diseases affecting cattle but does not report new research findings; it focuses on rare, inherited, and congenital conditions like follicular dysplasia and cutaneous asthenia.
28 citations
,
February 2012 in “PLoS ONE” In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.
44 citations
,
January 2017 in “Journal of Investigative Dermatology” This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.
December 2025 in “Pakistan Journal of Health Sciences” This systematic review found that estrogen deficiency in postmenopausal women leads to structural and symptomatic changes in genital and cutaneous tissues, with local estrogen therapy providing short-term benefits, while evidence for device-based treatments remains limited and requires larger trials.
April 2017 in “Journal of Investigative Dermatology” This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.
This review outlines common dermatological disorders in transgender patients related to hormone therapy and surgeries but presents no new clinical findings; the authors emphasize the need for inclusive healthcare training.
January 2019 in “International journal of dermatology, venereology and leprosy sciences” This study evaluated the prevalence and pattern of skin disorders in patients with chronic kidney disease, observing various dermatological issues that may impact quality of life and suggesting treatments to reduce morbidity.
5 citations
,
April 1984 in “Archives of Dermatology” This article reviews the characteristics, causes, and types of porphyria cutanea tarda but presents no new findings, focusing instead on existing knowledge about the disorder.
54 citations
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November 2015 in “Methods in enzymology on CD-ROM/Methods in enzymology” This chapter reviews keratins in skin epithelia, including their roles in cellular function and disease, and reports no new experimental results.
January 2023 in “Springer eBooks” This review discusses the causes, characteristics, and current management strategies for epidermolysis bullosa, emphasizing that while experimental therapies show promise, there are no definitive cures.
32 citations
,
April 2013 in “Anais Brasileiros de Dermatologia” This article reviews the diagnosis and management of inherited epidermolysis bullosa and reports no new clinical findings; it emphasizes the importance of clinical and histopathological evaluation.
December 2025 in “Biomedicines” This source reviews the common skin-related side effects of tyrosine kinase inhibitors in treating endocrine cancers and emphasizes that proactive, multidisciplinary management can effectively control these adverse events without compromising cancer treatment efficacy.
55 citations
,
August 2009 in “Journal of Feline Medicine and Surgery” In this case report, a 14-year-old cat was diagnosed with both hyperaldosteronism and hyperprogesteronism linked to a large adrenal tumor, highlighting the importance for clinicians to consider these concurrent conditions in similar cases.
1 citations
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January 2015 in “The Journal of Dermatology” This letter to the editor presents a case of non-Herlitz junctional epidermolysis bullosa associated with a COL17A1 mutation and reports no new clinical findings.
109 citations
,
September 2011 in “Human molecular genetics online/Human molecular genetics” This review discusses keratin disorders and potential RNA interference therapeutics, reporting no new clinical findings but highlighting the promise of siRNA for future treatments.
3 citations
,
August 2022 in “Cutis” This review reports that nail changes such as onycholysis, thin nails, and brittleness are associated with thyroid disorders, highlighting their importance in the early diagnosis of these conditions.
October 2020 in “Pediatrics in Review” This case report describes a newborn diagnosed with dominant dystrophic epidermolysis bullosa due to a COL7A1 mutation, following the presentation of blisters that healed without further complications.
87 citations
,
September 2012 in “Journal of Cell Science” This review discusses the role of keratins in providing mechanical resilience to epithelial tissues and highlights recent therapeutic approaches for keratin diseases, but reports no new experimental findings.
336 citations
,
August 2015 in “European Journal of Epidemiology” This article reviews the design and objectives of the Rotterdam Study, as well as summarizes major findings, without reporting new results.
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.
March 2026 in “Skin Appendage Disorders” In this case report, a 38-year-old woman with monilethrix, a hair shaft disorder, was found to have both hair fragility and androgenetic alopecia, highlighting the diagnostic and management challenges posed by coexisting hair conditions.
31 citations
,
August 2005 in “The American Journal of Dermatopathology” This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.
28 citations
,
April 1996 in “Cell biology international” This review discusses changes in keratin structure or gene expression that result in various skin disorders and reports no new clinical findings.
March 2012 in “Pathy's Principles and Practice of Geriatric Medicine” Older adults often have skin problems due to aging, and treating these conditions requires attention to both physical and mental health.
65 citations
,
March 2018 in “Journal of Dermatological Science” This review discusses the role of mechanical forces in skin homeostasis and disease development, including their impact on conditions like keloids, androgenetic alopecia, and acral melanoma, and reports no clinical results; the authors propose modifying these forces as a potential therapeutic strategy.
27 citations
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July 2015 in “International Journal of Dermatology” This study found that skin disorders are prevalent among elderly individuals and are often associated with underlying systemic diseases.
September 2014 in “Journal der Deutschen Dermatologischen Gesellschaft” Diabetes can cause a variety of skin disorders, some of which may signal more serious health issues.