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 Association of Systemic Involvement with Skin Morphology Assessed by Multiphoton Microscopy in Pseudoxanthoma Elasticum
Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
research Alopecia With Vitamin D-Dependent Rickets Type 2A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research Clinical, Biochemical, and Mutational Findings in Biotinidase Deficiency Among Malaysian Population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research Challenges in Treatment of Patients With Non-Classic Congenital Adrenal Hyperplasia
Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.
research Pseudoxanthoma Elasticum: Progress in Research Toward Treatment - Summary of the 2012 PXE International Research Meeting
Significant progress was made in understanding PXE, but effective treatments are still needed.
research A Combination of Low-Dose Systemic Etretinate and Topical Calcipotriol/Betamethasone Dipropionate Treatment for Hyperkeratosis and Itching in Olmsted Syndrome Associated with a TRPV3 Mutation
The combined treatment effectively managed severe skin issues in Olmsted syndrome.
research Pathogenesis and Management of TRPV3-Related Olmsted Syndrome
EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
research Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: A Comprehensive Review
The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
research Epidermolysis Bullosa Simplex: A Paradigm for Disorders of Tissue Fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
research Hairless Suppresses Vitamin D Receptor Transactivation in Human Keratinocytes
Hairless protein can block vitamin D activation in skin cells.
research Werner's Syndrome: Incidental Finding During Pregnancy
A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
research Molecular Mechanisms Regulating Hair Follicle Development
Understanding hair follicle development can help treat hair loss, skin regeneration, and certain skin cancers.
research Lysophospholipid Mediators in Health and Disease
Lysophospholipids like LPA and S1P are important for hair growth, immune responses, and vascular development, and could be targeted for treating diseases.
research Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
Environmental factors can cause mutations in skin proteins, leading to skin disorders.
research CaBP1 and 2 Enable Sustained CaV1.3 Calcium Currents and Synaptic Transmission in Inner Hair Cells
CaBP1 and CaBP2 are important for maintaining hearing by supporting continuous calcium currents and nerve signaling in the ear.
research Treatment of Hereditary Hypotrichosis Simplex of the Scalp with Oral Minoxidil and Growth Factors
Oral minoxidil and growth factors improved hair density and thickness in a girl with hereditary hair loss.
research First Symposium of Ichthyosis Experts
Experts met to improve care for ichthyosis patients in Spain.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research A Recently Characterized, Underdiagnosed Cause of Female Androgenetic Alopecia and Polycystic Ovarian Syndrome: Non-Classical 21 Hydroxylase Deficiency
Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
research Uncombable Hair Improved by Biotin
Biotin supplements significantly improved a young girl's uncombable hair.
research Ichthyoses
Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
research Cerebellar Hypoplasia, Hypergonadotrophic Hypogonadism, Retinitis Pigmentosa, Alopecia, Microcephaly, Psychomotor Retardation, and Short Stature: D-CHRAMPS Syndrome
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Erythromelanosis Follicularis Faciei: First Case Report from Saudi Arabia
A 17-year-old in Saudi Arabia was diagnosed with a rare skin condition causing red-brown facial patches.
research Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome
The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
research Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria
Premature aging increases the risk of immune problems and autoimmune diseases.
research The 1,25-Dihydroxyvitamin D3-Independent Actions of the Vitamin D Receptor in Skin
The vitamin D receptor helps regulate skin and hair health independently of its usual vitamin D ligand.
research Increased Risk of Chronic Fatigue and Hair Loss Following COVID-19 in Individuals with Hypohidrotic Ectodermal Dysplasia
People with hypohidrotic ectodermal dysplasia are more likely to experience long-term fatigue and hair loss after COVID-19.
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 Blank Spots in the Map of Human Skin: The Challenge for Xenotransplantation
Human skin xenografting could improve our understanding of skin development, renewal, and healing.