research Evaluation of Hair Loss
Detailed patient history and physical exams are crucial for diagnosing hair loss.
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research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Demodex Folliculitis of the Scalp: Clinicopathological Study of an Uncommon Entity
Demodex mites rarely cause scalp infections leading to hair loss, but when they do, treatment is effective.
research Self Prion Protein Peptides Are Immunogenic in Lewis Rats
Rats can develop an immune response to prion protein peptides, but it may cause severe skin issues in older rats.
research Novel Missense Mutation in the EDA Gene in a Family Affected by Oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research What's New in Hidradenitis Suppurativa?
The document concludes that awareness and understanding of hidradenitis suppurativa are increasing, but effective treatments are still needed.
research Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth
Biotin and acetazolamide improved hair and nail growth, mental function, and reduced headaches in a child with autism.
research Local Inflammation Exacerbates Cutaneous Manifestations in a Murine Autoimmune Pemphigus Model
Local inflammation worsens autoimmune skin conditions by increasing antibody buildup.
research Adalimumab-Induced Psoriatic Alopecia/Alopecia Areata-Like Reaction in a Patient with Crohn's Disease
A patient with Crohn's disease grew back their hair after stopping Adalimumab, which had caused hair loss.
research Cardiovascular Disease-Associated Skin Conditions
Some skin conditions may increase the risk of heart disease, and understanding their connection could lead to better treatments.
research Autoimmune Gastritis and Parietal Cell Reactivity in Two Children with Abnormal Intestinal Permeability
Children with autoimmune gastritis showed improved intestinal health over time and should be checked for other autoimmune conditions.
research Functional Genome And Proteome Analyses Of Cutaneous Autoimmune Diseases
Common gene patterns may cause skin autoimmune diseases.
research Examination of Androgenetic Alopecia with Serum Biomarkers
Serum biomarkers like insulin-like growth factor-1 and vitamin D may help diagnose androgenetic alopecia.
research T-Cell Reconstitution After Thymus Xenotransplantation Induces Hair Depigmentation and Loss
T-cell reconstitution after thymus transplantation can cause hair whitening and loss.
research Mutation in 5′ Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research A Mutation in the Type II Hair Keratin KRT86 Gene in a Han Family with Monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research Study of the Thyroid Profile of Patients with Alopecia
People with hair loss conditions may also have thyroid disorders, but more research is needed to understand the connection.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype With Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
research Case of Alopecia Universalis Accompanied by Minimal Change Nephrotic Syndrome
A possible link exists between minimal change nephrotic syndrome and complete hair loss.
research Interleukin-15 Is a Hair Follicle Immune Privilege Guardian
Interleukin-15 can help hair growth and protect hair follicles.
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 Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Skin Amidst COVID-19 Pandemic
COVID-19 can cause various skin issues, including rashes and 'COVID toes', and may worsen autoimmune diseases or affect men with baldness more severely.
research Alopecia Areata as a Clinical Manifestation of Autoimmune Inflammation Due to Vitamin D Deficiency
Lack of vitamin D might cause hair loss due to autoimmune problems, and fixing vitamin D levels could help treat it.
research High Throughput T Cell Receptor Sequencing Identifies Clonally Expanded CD8+ T Cell Populations in Alopecia Areata
Expanded CD8+ T cells are linked to Alopecia Areata and may cause relapse after treatment.