research A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
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research Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D–dependent rickets type 2A: a case report
Calcium supplements improved bone deformities but not skin papules or hair loss.
research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Immune mechanisms associated with sex-based differences in severe COVID-19 clinical outcomes
Females have stronger immune responses to COVID-19 than males, leading to better outcomes.
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
research The Search for the Causes of Common Hyperandrogenism, 1965 to Circa 2015
Significant progress was made in understanding androgen excess disorders, but much is still unknown.
research Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa
Antiviral drugs, especially daclatasvir, may be a new treatment for a rare skin disease, improving survival and reducing symptoms in mice.
research Evaluating the Metabolomic Profile and Anti-Pathogenic Properties of Cannabis Species
Cannabis has anti-inflammatory and antimicrobial properties, but more research is needed on its effects on plant and aquatic animal pathogens.
research The Anti-atopic Lotions Containing Fucoidan Extracted from Ecklonia Cava Impact on Hairless Mice Atopic Dermatitis Skin
Lotion with fucoidan from brown seaweed improved skin and reduced allergy symptoms in mice with dermatitis.
research Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
Hair follicles can be used to study gene mutations in Stargardt disease.
research TRPV3 Ion Channel: From Gene to Pharmacology
The TRPV3 ion channel is important for skin and hair health and could be a target for treating skin conditions.
research COVID-19: The question of genetic diversity and therapeutic intervention approaches
COVID-19 treatments and vaccines face challenges due to genetic differences in people and the virus.
research Metabolic Engineering of Microorganisms to Produce L-Aspartate and Its Derivatives
Scientists can use engineered microbes to make L-aspartate and related chemicals, but there's still room to improve their efficiency.
research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
research Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1
Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
research Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1
The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
research Ischemic Stroke in a Young Adult Male During Finasteride Therapy
Finasteride may increase stroke risk in people with clotting tendencies.
research Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): An update
The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
research Infant alopecia universalis: role of topical PUVA (psoralen ultraviolet A) radiation
Topical PUVA and tacrolimus ointment can effectively and safely treat infant alopecia universalis.
research Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings
Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
research Nonclassic congenital adrenal hyperplasia
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
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 Therapeutic anti-inflammatory potential of formyl-peptide receptor agonists
Formyl-peptide receptor agonists could be new anti-inflammatory drugs.
research The prolactin receptor as a therapeutic target in human diseases: browsing new potential indications
Blocking the prolactin receptor might help treat various diseases, but more research is needed.
research Investigation of Paraoxanase Enzyme Polymorphism in Patients with Alopecia Areata
There is no significant link between alopecia areata and the PON1 enzyme polymorphisms studied.