research Gene Therapy: Recent Advances and Applications in Dermatology
Gene therapy shows promise for treating skin disorders and cancer, but faces technical challenges.
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research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Novel Association of Trichothiodystrophy With Autoimmune Thyroiditis and Autoimmune Hemolytic Anemia: A Case Report
A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
research Genes of Congenital Dermatologic Disorders in Dogs: A Review
Over half of the dog skin disorders discussed have known gene variants, enabling genetic testing for diagnosis and responsible breeding.
research Relationship Between the Level of Vitamin D in Blood Flow and Skin Dermatosis
Low vitamin D levels are linked to more skin problems.
research What's New in Pediatric Dermatology?
In 2017, pediatric dermatology advanced with new treatments and insights into various skin conditions in children.
research Novel Drugs Targeting Retinoic Acid Receptors
Newer retinoid drugs are effective for skin conditions but have significant side effects.
research Skin Manifestations in Patients with Chronic Renal Failure on Regular Hemodialysis
Patients on long-term hemodialysis often experience severe itching and various skin and nail problems.
research Genetics
Certain gene mutations can weaken the skin barrier and, when combined with environmental factors, lead to eczema and severe itching.
research A Null Mutation in the Cystatin M/E Gene of Ichq Mice Causes Juvenile Lethality and Defects in Epidermal Cornification
A gene mutation in mice causes skin defects and early death.
research Efficient In Vitro Transfection of Human Keratinocytes with an Adenovirus-Enhanced Receptor-Mediated System
The AVET system effectively delivers genes to human keratinocytes and may help treat skin diseases.
research Formation of the Cornified Envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research Diffuse Plate-Like Sheets of Desquamation in a 69-Year-Old Woman with Relapsed Acute Lymphocytic Leukemia
The rash resolved after stopping ponatinib.
research Porokeratotic Adnexal Ostial Nevus: A Paradigm of Cutaneous Mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Ichthyosiform Erythroderma: A Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Skin, Genetic Defects, and Aging
Genetic defects and UV radiation cause skin damage and aging.
research Clinical Snippets: Melanoma Risk Prediction, Monilethrix Mutation, Keratitis-Ichthyosis-Deafness Syndrome, Skin Wrinkling and Lung Aging, Oxidative Stress in Androgenetic Alopecia
Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
research Roles of Steroid Sulfatase in Brain and Other Tissues
Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
research Ichthyoses
Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
research Finding Models for Skin Diseases: Successes and Failures
The document concludes that while finding animal models for the skin disease Hidradenitis suppurativa is challenging, certain mouse mutations may provide useful insights for research and drug testing.
research The Skin Landscape in Diabetes Mellitus: Focus on Dermocosmetic Management
Proper skin care and dermocosmetics improve skin issues in diabetes patients.
research Clinical Investigation of JAK Inhibitor Tofacitinib in Scarring Alopecias
Tofacitinib may slow hair loss in scarring alopecias but is unlikely to regrow significant hair.
research Inflammatory Vegetative Lesions of the Perineum: A Rare and Severe Clinical Presentation of Netherton Syndrome
Netherton Syndrome can cause severe skin lesions in rare cases.
research Cushing Syndrome from Percutaneous Absorption of 1% Hydrocortisone Ointment in Netherton Syndrome
Low-potency steroids can cause serious side effects in people with skin conditions like Netherton syndrome.
research Subcutaneous Emphysema Resulting from Liquid Nitrogen Spray
Liquid nitrogen spray caused a temporary, harmless swelling under the skin in an elderly woman.
research Correction of Hair Shaft Defects Through Allele-Specific Silencing of Mutant Krt75
Using special RNA to target a mutant gene fixed hair problems in mice.
research Clinical Snippets: Insights into Dermatological Health and Disease
Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
research Vitamins
High doses of certain vitamins can cause serious side effects and health risks.
research Lash Ptosis in Congenital and Acquired Blepharoptosis
Lash ptosis is more common and severe in people with congenital eyelid droop than in those with acquired eyelid droop or without eyelid droop.