research Epidermolysis Bullosa
Epidermolysis bullosa is an inherited condition causing fragile skin with no cure, managed by wound care and experimental treatments show promise.
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research Efficacy of Topical Henna on Itch and Wound Healing in Epidermolysis Bullosa Patients: A Pilot Clinical Trial
Henna ointment may help reduce itching and improve wound healing in patients with epidermolysis bullosa.
research Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation
Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
research Epidermolysis Bullosa Acquisita Occurring in a Patient with Systemic Lupus Erythematosus
A woman with lupus also developed a severe skin condition linked to a genetic factor.
research Pathological Modeling of Epidermolysis Bullosa Simplex Using Induced Pluripotent Stem Cells
Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
research Read-Through for Nonsense Mutations in Type XVII Collagen-Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research Availability of mRNA from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research Identification of a Novel Homozygous LAMB3 Mutation in a Chinese Male With Junctional Epidermolysis Bullosa and Severe Urethra Stenosis: A Case Report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Localized Epidermolysis Bullosa Simplex (Weber-Cockayne Type)
A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
research Dominant Dystrophic Epidermolysis Bullosa: Seven Familial Cases
The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
research Phase I/IIa Clinical Trial for Recessive Dystrophic Epidermolysis Bullosa Using Genetically Corrected Autologous Keratinocytes
The gene therapy showed significant wound healing and was safe for treating severe RDEB.
research Defining Chronic Wound Types in Recessive Dystrophic Epidermolysis Bullosa Patients for Clinical Outcome Assessment
The conclusion is that differentiating wound types in RDEB patients is important for clinical trials and understanding the disease.
research CRISPR/Cas9-Based Targeted Genome Editing for Correction of Recessive Dystrophic Epidermolysis Bullosa Using iPS Cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research Case of Non-Herlitz Junctional Epidermolysis Bullosa with COL17A1 Mutation
Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
research Antiviral Drugs Prolong Survival in Murine Recessive Dystrophic Epidermolysis Bullosa
Antiviral drugs, especially daclatasvir, may be a new treatment for a rare skin disease, improving survival and reducing symptoms in mice.
research Efficient Genome Editing Using CRISPR/Cas9 Ribonucleoprotein Approach in iPS Cells for Recessive Dystrophic Epidermolysis Bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research Successful Allogeneic Epidermal Grafting of Chronic Recessive Dystrophic Epidermolysis Bullosa Wounds from Hematopoietic Cell Donors in the Outpatient Setting
Skin grafts from related donors significantly healed chronic wounds in patients with a severe skin condition over a year.
research Poster Presentations SG11 KRT14 Pathogenic Or Likely Pathogenic Variants Beyond Epidermolysis Bullosa: Dermatopathia Pigmentosa Reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research First Symposium on Natural Gene Therapy of the Skin
Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
research Oral Presentations: Findings from Dermatological Studies
The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
research Keratin Disorders: From Gene to Therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Keratin K15 as a Biomarker of Epidermal Stem Cells
Keratin 15 is not a reliable sole marker for identifying epidermal stem cells because it's found in various cell types.
research Keratins and Skin Disease: Genetic and Molecular Roles
Keratin mutations cause skin diseases and could lead to new treatments.
research Mechanical Forces in Skin Disorders
Skin problems can be caused or worsened by physical forces and pressure on the skin.
research The Keratins and Their Disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research Genome-Wide Meta-Analysis Implicates Mediators of Hair Follicle Development and Morphogenesis in Risk for Severe Acne
Genetic variations affecting skin structure play a key role in severe acne.
research Thymosin Beta 4 Promotes Dermal Healing
Thymosin β4 helps improve skin healing and reduce scarring.
research Keratin and Skin Disorders
Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research Characterization of the Epidermal-Dermal Junction in hiPSC-Derived Skin Organoids
The study created hair-bearing skin models that lack a key protein for skin layer attachment, limiting their use for certain skin disease research.