49 citations
,
August 2004 in “The FASEB Journal” This study found that transgenic mice expressing human keratin K8 in the epidermis showed increased progression of skin lesions toward malignancy, suggesting a role for K8 in the development of invasive skin cancer.
12 citations
,
March 2018 in “F1000Research” This case report details the dermoscopic features of oral lichen planus in a young adult male, using mucoscopy to reveal a tri-colored pattern with unique structures and vascular patterns.
9 citations
,
August 2021 in “Journal of clinical medicine” This review discusses pili torti, a rare hair shaft disorder, and reports no new clinical results; it emphasizes the need to investigate underlying conditions in affected individuals.
5 citations
,
January 2020 in “Wiadomości lekarskie (Warsaw Poland)” This study found that patients with GERD and UCTD have significantly more frequent phenotypic and visceral markers than those with GERD alone, which should inform early diagnostic and treatment strategies.
2 citations
,
December 2013 in “Veterinary dermatology” This study describes three adult dogs with sebaceous gland dysplasia, reporting that two showed moderate to marked improvement in symptoms with treatment, though ongoing management is required as the condition cannot be cured.
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.
89 citations
,
September 2010 in “Annual Review of Genomics and Human Genetics” This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.
32 citations
,
April 1994 in “Journal of the American Academy of Dermatology” This report presents the second known case of erythema nodosum without typical associated conditions, which could be linked to mycoplasma infection, although no testing was conducted to confirm this in the patient.
30 citations
,
June 2014 in “Seminars in Immunology” This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.
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.
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.
175 citations
,
December 1980 in “Archives of Dermatology” In this study, researchers examined two new cases of trichothiodystrophy and observed that the condition is linked to decreased synthesis of high-sulfur matrix proteins in hair.
May 2019 in “Australasian Journal of Dermatology” The document updated knowledge on skin disorders, focusing on unusual moles in older adults, the progression from moles to melanoma, and evolving hair loss treatments.
July 2023 in “Journal of allergy and clinical Immunology. Global” This case report describes a 10-month-old boy with VACTERL association and athymia who developed Omenn syndrome, highlighting the complex overlap of these conditions and the challenging clinical course due to profound T-cell immunodeficiency.
1 citations
,
January 2018 in “Indian dermatology online journal” This case report describes a girl diagnosed with ADULT syndrome, highlighting its rarity, varied presentation, and the importance of early diagnosis to prevent unnecessary stress and medical expenses.
This chapter reviews the clinical features, diagnosis, treatment, and prognosis of various non-hormonal, non-infectious alopecias without providing new clinical findings.
26 citations
,
July 2019 in “Dermatology and Therapy” This article discusses genetic hair disorders in children, outlining diagnostic approaches and highlighting the significance of distinguishing isolated hair defects from those associated with syndromes, but it reports no new clinical results.
44 citations
,
January 2005 in “Dermatology” This article reviews the clinical and diagnostic features of hair shaft disorders, emphasizing the role of structured patient assessments and the avoidance of hair trauma, but reports no new results.
March 2026 in “Cell Death Discovery” In this comprehensive review, researchers examine the p63 gene's crucial role in skin development and pathology, highlighting its regulation of cell processes and its potential therapeutic implications for disorders like ectodermal dysplasia.
37 citations
,
January 2005 in “Clinics in dermatology” This review discusses recent advances in understanding the genetics of hair and nail disorders and reports no new clinical results.
9 citations
,
March 2022 in “Military Medical Research” This study developed a method to convert fibroblasts into sweat gland-like cells, suggesting potential for regenerating damaged skin and restoring sweat gland function.
6 citations
,
August 2022 in “International Journal of Molecular Sciences” This review summarizes the role of Ectodysplasin A signaling in skin appendage development and various diseases, noting potential clinical applications but reporting no new research findings.
4 citations
,
May 2023 in “Cells” In this study, baricitinib treatment improved the differentiation of skin-derived precursors into adipocytes for diseases like Hutchinson-Gilford progeria syndrome, suggesting potential benefits when combined with lonafarnib.
3 citations
,
June 2018 in “Internal Medicine” In this study, a patient with Cronkhite-Canada syndrome complicated by severe sepsis and disseminated intravascular coagulation was successfully treated using combined therapies, including recombinant human soluble thrombomodulin, despite the absence of a standard treatment regimen for CCS.
November 2014 in “Elsevier eBooks” This article reviews the clinical and biochemical features of genetic mutations affecting dihydrotestosterone production and their potential role in male pseudo-hermaphroditism, but presents no new clinical results.
28 citations
,
May 2000 in “Proceedings of the National Academy of Sciences” This study demonstrated that the highly divergent WDSV rv-cyclin significantly stimulates eukaryotic cell proliferation, leading to hyperplastic skin lesions in transgenic mice.
June 2018 in “Journal of the American Veterinary Medical Association” Three related Persian cats have a rare, likely hereditary skin condition causing hair loss and poor coat quality, with limited treatment options.
37 citations
,
July 2005 in “Journal of The American Academy of Dermatology” This article reviews the clinicopathologic features of short anagen syndrome in a child and suggests diagnostic methods like clinical examination and scalp hair growth rate measurement, without reporting new clinical results.
16 citations
,
September 2008 in “Dermatologic Therapy” This review discusses the clinical features, genetics, and treatment of 21-hydroxylase deficiency, a common type of congenital adrenal hyperplasia, and reports no new research findings.
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.