research A kindred with mutant IKAROS and autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
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450-480 / 1000+ resultsresearch Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
research Treatment of alopecia areata: “What is new on the horizon?”
New treatments for alopecia areata may target specific immune cells and pathways involved in hair loss.
research Alopecia Areata
The document concludes that ongoing research using animal models is crucial for better understanding and treating Alopecia Areata.
research Glutamic acid promotes hair growth in mice
Glutamic acid helps increase hair growth in mice.
research Biotinidase deficiency characterized by skin and hair findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
research Hair follicles modulate skin barrier function
Hair follicles play a crucial role in regulating skin barrier function.
research Kyoto Rhino Rats Derived by ENU Mutagenesis Undergo Congenital Hair Loss and Exhibit Focal Glomerulosclerosis
A new rat strain with a specific gene mutation causes hair loss and kidney issues.
research Alopecia: Association with Resistance to Thyroid Hormones
A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
research A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12∼12.3 in a Chinese family
A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
research GWASs Identify Genetic Loci Associated with Human Scalp Hair Whorl Direction
Certain genes influence the direction of hair whorls on the scalp.
research Genetic and hormonal influence on SARS-CoV-2-infection susceptibility
Men may be more vulnerable to severe COVID-19 due to genetic and hormonal factors, but more research is needed.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Acne
Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.
research Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies
Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case
Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
research It’s X-Related: Biological Bases of Increased COVID-19 Morbidity and Mortality in Men
Men have worse COVID-19 outcomes than women due to genetic and hormonal differences.
research Hidradenitis Suppurativa/Acne Inversa/Dissecting Terminal Hair Folliculitis
Hidradenitis Suppurativa is a chronic skin condition best treated early with surgery for better outcomes and less recurrence.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
research 0034 Cross-species insights into hair follicle-T cell interactions in discoid lupus erythematosus: A comparison of human, canine and mouse models using spatial transcriptomics
Discoid lupus erythematosus involves immune activation and fibrosis around hair follicles, with shared pathways across humans, dogs, and mice, suggesting potential treatments for both humans and animals.
research Application of multi-omics techniques to androgenetic alopecia: Current status and perspectives
Multi-omics techniques help understand the molecular causes of androgenetic alopecia.
research In vitro Differentiation of Melanocyte Stem Cells Derived from Vitiligo Patients into Functional Melanocytes
Melanocyte stem cells from non-affected skin in vitiligo patients can become functional melanocytes for potential therapy.
research The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Management of a Refractory EIF3E-RSPO2 Fusion Positive Pilomatrical Cancer Patient with Encyclopedic Tumor Analysis Guided Treatment
Personalized treatment based on detailed tumor analysis successfully managed and reduced the patient's aggressive hair follicle cancer.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research The Challenging Consultation: Management of Melanoma
The conclusion is that managing hair loss conditions like FFA and melanoma requires individualized approaches, considering new findings and balancing treatment benefits with potential risks.