research Aging Skin and Non-Surgical Procedures: A Basic Science Overview
Non-surgical procedures can help reduce wrinkles and stimulate skin repair by understanding skin aging at the molecular level.
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research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Regulatory T Cells in Autoimmune Skin Diseases
Treg dysfunction is linked to various autoimmune skin diseases, and understanding Treg properties is key for new treatments.
research Cholesterol Homeostasis: Links to Hair Follicle Biology and Hair Disorders
Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.
research Issue Information - Table of Contents: April 2016 Journal of the European Academy of Dermatology and Venereology
The April 2016 JEADV issue covered various dermatology topics, including psoriasis, psoriatic arthritis, mTOR inhibitors, autoimmune diseases, photodynamic therapy, viral DNA in skin diseases, chronic hand eczema, and female hair loss.
research Case Report: Heterozygous Mutation in HTRA1 Causing Typical Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research The Rotterdam Study: 2014 Objectives and Design Update
The Rotterdam Study aims to understand disease causes in the elderly and has found new risk factors and genetic influences on various conditions.
research Successful Plasmapheresis and Immunoglobulin Treatment for Severe Lipid Storage Myopathy: Doing the Right Thing for the Wrong Reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research Epidermolysis Bullosa Simplex in Children with De Novo Pathogenic Variants Disturbing KRT14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Hedgehog Pathway Inhibitors Against Tumor Microenvironment
Hedgehog pathway inhibitors can treat certain aggressive cancers but face limitations like resistance and side effects.
research A Kindred With Mutant IKAROS and Autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
research Proceedings of the Ninth World Congress for Hair Research 2015
The 2015 Hair Research Congress concluded that stem cells, maraviroc, and simvastatin could potentially treat Alopecia Areata, topical minoxidil, finasteride, and steroids could treat Frontal Fibrosing Alopecia, and PTGDR2 antagonists could also treat alopecia. They also found that low-level light therapy could help with hair loss, a robotic device could assist in hair extraction, and nutrition could aid hair growth. They suggested that Alopecia Areata is an inflammatory disorder, not a single disease, indicating a need for personalized treatments.
research Expanding on the Phenotypic Spectrum of Woodhouse-Sakati Syndrome Due to Founder Pathogenic Variant in DCAF17: Report of 58 Additional Patients from Qatar and Literature Review
Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
research Cellular Heterogeneity and Plasticity of Skin Epithelial Cells in Wound Healing and Tumorigenesis
Skin cells show flexibility in healing wounds and forming tumors, with potential for treating hair disorders and chronic ulcers.
research Omenn Syndrome in a 10-Month-Old Male With Athymia and VACTERL Association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Metabolic and Pathologic Profiles of Human LSS Deficiency Recapitulated in Mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research Updated Strategies for the Management, Pathogenesis, and Molecular Genetics of Different Forms of Ichthyosis Syndromes with Prominent Hair Abnormalities
Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
research ILDS Newsletter No. 29: Efforts to Improve Lives of Patients with Albinism in Sub-Saharan Africa
The ILDS Newsletter reported on efforts to support albinism patients in Tanzania and dermatological conferences.
research Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution, And Tumor-Initiating Cells
Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
research Clinical and Genetic Aspects of Alopecia Areata: A Cutting Edge Review
Hair loss from Alopecia Areata is caused by both genes and environment, with several treatments available but challenges in cost and relapse remain.
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 Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
research Identification of an Intronic Regulatory Element Necessary for Tissue-Specific Expression of Foxn1 in Thymic Epithelial Cells
A specific DNA region is crucial for Foxn1 gene expression in thymus cells but not in hair follicles.
research Notch Signaling Is Significantly Suppressed in Basal Cell Carcinomas and Activation Induces Basal Cell Carcinoma Cell Apoptosis
Activating Notch signaling can kill basal cell carcinoma cells.
research Myotonic Dystrophy Type 1: Enhancing Patient Management Through Genetic and Multisystem Studies
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research Effects of Androgen Treatment on Growth in Patients with 5-Alpha-Reductase Type 2 Deficiency
Androgen treatment with dihydrotestosterone may help maintain height in patients with 5-α-reductase type 2 deficiency, especially before puberty.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.