research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
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120-150 / 1000+ resultsresearch Study of the biological function and penetration pathways of the mouse epidermal growth factor ethosomal delivery system
The ethosomal delivery system improves topical drug delivery and promotes hair growth.
research Development of pluripotent stem cell-derived epidermal organoids that generate effective extracellular vesicles in skin regeneration
Stem cell-derived organoids can improve skin healing.
research Netherton Syndrome
Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
research Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis
Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
research Topical tacalcitol ointment can be a good therapeutic choice in erythromelanosis follicularis faciei et colli
Topical tacalcitol ointment can help improve symptoms of EFFC.
research The eosinophilia-myalgia syndrome
Eosinophilia-myalgia syndrome, linked to contaminated L-tryptophan supplements, caused severe symptoms and some deaths, with long-term effects in survivors.
research Escobar syndrome (multiple pterygium syndrome) associated with osteogenesis imperfecta: a case report
Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
research Ichthyosis fetalis in a cross‐bred lamb
A cross-bred lamb with severe skin and movement issues had ichthyosis fetalis but normal vitamin A levels.
research A RARE CASE OF ISOLATED PULMONARY INVOLVEMENT IN LYMPHOID VARIANT HYPEREOSINOPHILIC SYNDROME
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.
research Erythromelanosis follicularis faciei et colli with reticulated hyperpigmentation of the extremities
A rare skin condition causes red and dark patches on the face and limbs.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Epoxy Fatty Acids and Inhibition of the Soluble Epoxide Hydrolase Selectively Modulate GABA Mediated Neurotransmission to Delay Onset of Seizures
EETs can delay seizures by affecting GABA activity, offering potential new treatments for seizures.
research Epidermolysis Bullosa Simplex Keratinocytes Show Disturbed Mitochondrial Positioning and Activity
Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
research Outer root sheath (ORS) cells organize into epidermoid cyst-like spheroids when cultured inside Matrigel: a light-microscopic and immunohistological comparison between human ORS cells and interfollicular keratinocytes
research Dermoelectroporation-Enhanced Delivery of Human Placental Mesenchymal Stem Cell-Derived Exosomes for Regenerative Applications: A Systematic Review and Meta-Analysis
This technique improves delivery and effectiveness of exosomes for tissue regeneration.
research Osseous Metaplasia and Mature Bone Formation With Extramedullary Hematopoiesis in Trichilemmal Cyst
Ossification in trichilemmal cysts is more common than previously believed.
research Anagen effluvium in extracorporeal membrane oxygenation
A child on life support experienced rapid hair loss due to severe illness affecting hair growth.
research FERTILITY-SPARING MANAGEMENT OF ENDOMETRIAL INTRAEPITHELIAL NEOPLASIA & ENDOMETRIAL CANCER: A COMPARISON OF THE LEVONORGESTREL-RELEASING INTRAUTERINE DEVICE VS SYSTEMIC THERAPY
Both LNG-IUD and systemic progestins are effective for fertility-sparing treatment, but close monitoring is needed due to recurrence risk.
research Ion Sequential Therapy Aligned With Pathological Changes Enhances Cardiac Function After Myocardial Infarction
Ion sequential therapy improves heart function after a heart attack.
research THE IMPORTANCE OF TRANS-ESOPHAGEAL ECHOCARDIOGRAPHY IN DIAGNOSING LIBMAN-SACKS ENDOCARDITIS IN SYSTEMIC LUPUS ERYTHEMATOSUS: A CASE REPORT
Trans-esophageal echocardiography is crucial for accurately diagnosing heart issues in lupus patients.
research Engineered extracellular vesicles for tissue repair and regeneration
Engineered extracellular vesicles can improve tissue repair and regeneration.
research Eosinophilic pustular folliculitis (Ofuji’s disease) without macroscopic pustules
EPF can occur without visible pustules.
research Evaluation of Clinical and Oral Findings in Patients with Epidermolysis bullosa
People with Epidermolysis bullosa have many health problems including poor oral health, which is often neglected due to other medical issues.
research Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Essential Fatty Acid Deficiency (EFAD) in a Patient with Vascular Ehlers Danlos Syndrome (EDS-4) (P12-053-19)
A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
research Valproic acid – induced Pleuro-pericardial Effusion
Valproic acid can rarely cause fluid buildup around the lungs and heart.
research 454 Modeling epidermolysis bullosa simplex with cardiomyopathy using KLHL24-mutant pluripotent stem cells.
KLHL24-mutant stem cells help understand skin and heart disease.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.