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.
53 citations
,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” This review discusses the range of diseases caused by mutations in keratin intermediate filament genes and presents no new clinical findings; the authors note the diverse phenotypes within this molecular category.
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.
12 citations
,
April 2019 in “Nature protocols” This study describes a protocol for generating a fully functional 3D integumentary organ system from murine induced pluripotent stem cells, including the formation of hair follicles and sebaceous glands that function in vivo.
3 citations
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January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that epidermolysis bullosa simplex keratinocytes had impaired mitochondrial activity and more dispersed mitochondrial distribution compared to normal human keratinocytes.
3 citations
,
January 2019 in “Journal of Dermatology” This letter to the editor discusses the natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family but does not present new clinical results.
2 citations
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August 2012 in “Journal of the American Academy of Dermatology” This correspondence describes two patients with both epidermolysis bullosa simplex, Dowling-Meara type, and loose anagen hair syndrome, an association not previously reported in the literature.
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.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that carefully engineered hydrogels and asymmetric morphogen gradients facilitated the formation of anatomically relevant skin organoids from iPSC-derived EBs, improving pigmentation and hair follicle generation.
June 2019 in “Pediatric Dermatology” This review discusses the pathogenesis and clinical presentations of alopecia in epidermolysis bullosa patients, noting diverse hair abnormalities and emphasizing the lack of a consensus on its natural history.
April 2016 in “Journal of Investigative Dermatology” This study found that administering botulinum toxin A via Flex-PADs to mouse footpads inhibited sweating similarly to traditional injections, suggesting a promising patient-friendly delivery method for hyperhidrosis treatment.
3 citations
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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.
44 citations
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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
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May 2017 in “Journal of Investigative Dermatology” This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.
26 citations
,
June 2004 in “Clinical Genetics” This study describes a case of epidermolysis bullosa simplex where maternal somatic and germline mosaicism was identified, highlighting the significance for genetic counseling in sporadic cases.
26 citations
,
May 2011 in “Tissue Engineering Part A” This study found that mouse embryoid bodies adhered quickly and differentiated efficiently into cardiomyocytes on negatively charged poly(sodium p-styrene sulfonate) hydrogels, similar to their behavior on gelatin-coated polystyrene.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
February 2025 in “Borneo Journal of Pharmacy” This study reviewed evidence on eribulin's efficacy and safety for treating metastatic triple-negative breast cancer, highlighting variable survival outcomes and manageable safety profiles for both monotherapy and combination therapies.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
18 citations
,
August 2012 in “Journal of The American Academy of Dermatology” This report describes a case where a sex reassignment patient on estrogen therapy experienced complete hair regrowth on a previously fully alopecic scalp.
1 citations
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November 2001 in “Acc Current Journal Review” This review found that 5α‐reductase inhibitors were associated with slightly increased rates of decreased libido, erectile and ejaculatory dysfunction, gynecomastia, and mood disorders compared to placebo, though their long-term effects remain unclear.
12 citations
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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.
4 citations
,
September 2024 in “BMC Oral Health” This review highlights the lack of evidence on dental care access and referral pathways for children with EB, emphasizing the need for dentists and multidisciplinary teams to understand EB for effective treatment; it reports no new study results.
4 citations
,
January 2010 in “Journal of Veterinary Medical Science” This study used histopathological and ultrastructural analyses to differentiate between junctional epidermolysis bullosa and dermatomyositis-like disease in two juvenile dogs with skin disorders.
December 2025 in “Cureus” This case report highlights that scarring alopecia with features of dystrophic epidermolysis bullosa and lichen planopilaris can occur in patients with a COL7A1 mutation, emphasizing the need to recognize concurrent inflammatory causes.
This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.
April 2003 in “Experimental Dermatology” This workshop review from the Australian Hair and Wool Research Society discusses findings in cutaneous biology and endocrinology but presents no new research results.
January 2024 in “Brazilian Journal of Veterinary Pathology” In this case report, veterinarians observed a 16-year-old mare with symptoms including chronic weight loss, pruritus, muscle atrophy, and lameness, which gradually progressed to neurological issues despite initial treatment.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This case study reports that a 26-year-old woman with epidermolysis bullosa prurogompsa also presented with unique findings of co-existing muscular dystrophy and immune-based myasthenia gravis, with significant improvement following steroid treatment.