July 2023 in “Journal of Education, Health and Sport” This literature review reports that micro-needle radiofrequency is increasingly recognized in aesthetic medicine as a safe, effective treatment for various skin conditions, but further research is needed to optimize treatment parameters for the best outcomes.
27 citations
,
July 2020 in “Stem Cells International” This study observed that while PRP therapy increased inflammation and fibrosis in photoaged skin, ADSCs therapy showed promising antiaging effects by promoting elastin and fibrillin formation and remodeling the dermis.
20 citations
,
January 2005 in “Australasian Journal of Dermatology” This article describes a case of late-onset focal dermal elastosis in a 73-year-old woman, characterized by flat pale yellow lesions and increased normal elastic fibers, distinct from pseudoxanthoma elasticum.
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.
18 citations
,
January 2018 in “BMC dermatology” This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.
April 2023 in “Journal of Investigative Dermatology” In this study, a mouse model of scarring alopecia demonstrated significantly reduced CD200R expression in affected skin, which may contribute to immune attacks on hair follicles.
13 citations
,
February 2007 in “British Journal of Dermatology” EF and PXE not closely related.
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.
14 citations
,
October 2021 in “Dermatology and Therapy” This study found that photoexposure significantly increased the gene expression of altered elastin, MMP12, and LOX, as well as the protein expression of tropoelastin and fibrillin-1, in skin models.
19 citations
,
May 2016 in “Matrix Biology” In this mouse study, researchers found that the absence of laminin-511 in skin delays hair follicle development and disrupts hair shaft differentiation, affecting key transcription factors for hair keratins.
10 citations
,
April 2013 in “Journal of Investigative Dermatology” This study reports a semidominant inheritance of epidermolytic ichthyosis due to a KRT1 mutation, which was previously thought to be only inherited dominantly.
20 citations
,
February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
January 2023 in “Indian dermatology online journal” This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.
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.
April 2023 in “Journal of Investigative Dermatology” This study found that alopecia areata patients have higher odds of certain comorbidities like ulcerative colitis and vitiligo, while showing lower odds for conditions like hypertension and type 2 diabetes compared to healthy controls.
3 citations
,
July 2024 in “Frontiers in Medicine” This study reports that analyzing the clinical manifestations of different genetic variants in EBS families helps predict disease progression and severity, guide complication risk assessment, and plan necessary medical care.
1 citations
,
February 2013 in “InTech eBooks” This article discusses research about Netherton syndrome, highlighting its contributions to understanding epidermal structure, immune responses, and processes like atopic dermatitis, but it reports no new clinical findings.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.
4 citations
,
May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reported that ELL is crucial for maintaining the proliferative capacity of the basal layer in human epidermal keratinocytes by stabilizing RNA polymerase II at the transcription start site.
September 2019 in “Journal of Investigative Dermatology” This study found that using human induced pluripotent stem cells (iPSC) carrying the causal mutation of Epidermolysis Bullosa simplex provides a robust model for understanding its molecular mechanisms and testing potential therapeutic targets.
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.
September 2016 in “Journal of Dermatological Science” This case report describes the first documented instance of epidermal nevus syndrome caused by a postzygotic KRAS G12C mutation in a three-year-old Japanese girl.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a mutation in the CST6 gene linked to a rare syndrome with symptoms affecting hair and skin, revealing cystatin M/E's role in maintaining epidermal homeostasis and hair follicle development.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This article reviews Netherton syndrome, focusing on its genetic basis, clinical presentation, and treatment options, and reports no clinical results; the authors mention potential benefits of targeted therapies and gene therapy.
February 2023 in “Journal of Cutaneous Pathology” This case report describes an adult female with concurrent mycosis fungoides and papillary dermal elastolysis, highlighting the importance of considering rare presentations in differential diagnoses.
372 citations
,
December 2004 in “Nature Genetics” 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.
January 2020 in “Medical journal of clinical trials & case studies” This report details a case of dystrophic epidermolysis bullosa in a 37-year-old male with a recessive mutation in the CLO7A1 gene, affecting type VII collagen.
March 2009 in “Encyclopedia of Life Sciences” This article reviews keratin disorders and highlights recent progress in therapeutic approaches, including a clinical trial for pachyonychia congenita using siRNA, but reports no new clinical findings.