research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
Search
for
Sort by
Research
180-210 / 1000+ results research Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
research Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research Small molecules facilitate single factor-mediated sweat gland cell reprogramming
Small molecules can help turn skin cells into sweat gland-like cells for potential skin repair.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research Poster presentationsSG11 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 Collodion baby to bathing suit ichthyosis: A 6-year follow-up
A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.
research The Hair-An Syndrome: A Report of a Misdiagnosed Case with Unfortunate Outcome
A misdiagnosed case of HAIR-AN syndrome led to unnecessary surgeries and highlighted the importance of correct diagnosis and treatment.
research SAT340 Matters Of The HAART - Ritonavir Induced CYP3A4 Inhibition of Intranasal Fluticasone Leading To Cushing’s Syndrome
HIV medication ritonavir can increase the effects of nasal sprays like fluticasone, causing Cushing's syndrome.
research The effect of hormones of the hypothalamic-pituitary-target gland axes in a kidney-yang deficiency syndrome model
Kidney-yang deficiency syndrome causes hormonal imbalances and various physical symptoms.
research Therapeutic Effect of Superficial Scalp Hypothermia on Chemotherapy-Induced Alopecia in Breast Cancer Survivors
Scalp cooling effectively reduces hair loss in breast cancer patients undergoing chemotherapy.
research Efficacy of luliconazole combination shampoo in patients with seborrheic dermatitis
The luliconazole shampoo effectively reduces symptoms of seborrheic dermatitis and is well-tolerated.
research Toll-like receptor 4 (TLR4): new insight immune and aging
TLR4 is important in aging-related diseases and could be a new treatment target.
research Advancements in Dermatological Imaging Modalities
New imaging technologies improve skin diagnosis but face cost and training challenges.
research Vitisin A Outperforms Cyanidin-3-O-Glucoside in Triglyceride Reduction by Modulating Hepatic Lipogenesis and Fatty Acid β-Oxidation
Vitisin A reduces triglycerides better than Cyanidin-3-O-glucoside.
research Novel genes and variants associated with longevity in Bulgarian centenarians revealed by whole exome sequencing DNA pools: a pilot study
Certain genes may help Bulgarians live longer.
research Understanding Anxiety and Knowledge Gaps Surrounding Laser Hair Removal: A Clinic-Based Cross-Sectional Study
Improving understanding of laser hair removal can reduce anxiety and help people make better decisions.
research Spotlight commentary: Navigating the cutaneous side effects of chemotherapy
Chemotherapy often causes skin and hair issues, but early management can help improve patient care.
research Case Report: Baricitinib improved alopecia areata in a pediatric patient with atopic dermatitis
Baricitinib significantly improved hair regrowth and skin condition in a 14-year-old with alopecia areata and atopic dermatitis.
research The Skin and Inflamm-Aging
Aging skin causes inflammation that affects the whole body.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Exploring the Complexities of Atopic Dermatitis: Pathophysiological Mechanisms and Therapeutic Approaches
Atopic dermatitis needs personalized treatment using various therapies, starting with topical corticosteroids.
research Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research Sweat under surveillance: Loss of immune–metabolic loop during aging
Aging weakens sweat glands due to reduced support from immune cells, but treatments may help restore function.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research E-Poster
Early diagnosis, genetic testing, and innovative treatments are crucial for managing complex medical conditions.
research Corona With Lyme: A Long COVID Case Study
The study concludes that long COVID recovery involves time, various treatments, and a strong patient-provider relationship.
research Phytochemistry, pharmacological activity, and potential health benefits of Glycyrrhiza glabra
Licorice has many health benefits but should be used carefully due to possible side effects.
research Interventions for central serous chorioretinopathy: a network meta-analysis
No single treatment is clearly effective for central serous chorioretinopathy.