research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
Search
for
Sort by
Research
150-180 / 633 resultsresearch Olmsted Syndrome: A Rare Keratinization Disorder
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research Vitamins
Taking too much vitamin A can cause health problems like bone pain and hair loss.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research Differential Associations of Psoriasis Subtypes With Autoimmune Disorders in US Children and Adults: A Cross-Sectional Study
People with all types of psoriasis are more likely to have autoimmune diseases than those without psoriasis.
research IL-17 Axis Is a Significant Driver of Skin Inflammation in CARD14 Mutant Pityriasis Rubra Pilaris Model Mice
Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.
research Clouston Syndrome: A Complete Genotype–Phenotype Correlation After Four Decades And Six Generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research GC-TOF/MS-Based Metabolomics for Comparison of Volar and Non-Volar Skin Types
Different types of skin on mice have unique chemical profiles related to how they grow and react to stress.
research Ichthyosiform Erythroderma: A Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Clouston’s Syndrome: A Rare Case Report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
research Novel Biallelic RIPK4 Mutations Cause Ectodermal Dysplasia with Cutaneous Syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research Phosphodiesterase (PDE) Inhibitors for the Treatment of Inflammatory Skin Conditions
PDE inhibitors, especially PDE4 inhibitors like apremilast, are effective for certain inflammatory skin conditions but have side effects and can be costly.
research Study of Cutaneous Manifestations in Thyroid Disorders
Skin problems are common in thyroid disorders, with dry skin in hypothyroidism and warm, soft skin in hyperthyroidism.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research Tumor Necrosis Factor-Alpha Inhibitor Associated Psoriasiform Alopecia (Drug-Induced Psoriasiform Alopecia)
Some patients on anti-TNF drugs experience a type of hair loss called TAIAPA.
research Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Atypical Scurvy Associated with Anorexia Nervosa
A woman with anorexia improved significantly after being treated for scurvy with vitamin C, despite not showing typical scurvy symptoms.
research Delayed-Onset Pachyonychia Congenita Caused by a Novel Mutation in the V2 Domain of Keratin 6B
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Large-Scale Skin scRNA-Seq Profiling Highlights Distinct Body Site-Specific Ligand-Receptor Interactions and Pathways in Keratinocytes
Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.
research Role of Caffeine in the Management of Androgenetic Alopecia
Caffeine may help hair growth in hereditary hair loss.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome
The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
research Alopecia in Congenital Hidrotic Ectodermal Dysplasia Responding to Treatment with a Combination of Topical Minoxidil and Tretinoin
Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
research A Missense Mutation in the P2RY5 Gene Leading to Autosomal Recessive Woolly Hair in a Syrian Patient
A gene mutation causes woolly hair in a Syrian patient.
research Severe, Disfiguring, Pityriasis Rubra Pilaris in a Woman in the Dominican Republic
A woman with HIV had a severe skin condition that improved with antiretroviral therapy.
research Role of Platelet-Rich Plasma in the Management of Androgenetic Alopecia
PRP helps hair growth in common hair loss disorder.
research Keratin 17-Related Recessive Atypical Pachyonychia Congenita with Variable Hair and Tooth Anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Cutaneous Side Effects of Chemotherapy and Radiotherapy
Chemotherapy and radiotherapy can cause skin side effects like rashes, hair loss, and nail changes, which are usually managed with conservative treatments.