research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
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research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Autoimmune polyglandular syndrome type 4 – case report
Patients with one autoimmune disease should be checked for other autoimmune disorders.
research The RpoS Gatekeeper in Borrelia burgdorferi: An Invariant Regulatory Scheme That Promotes Spirochete Persistence in Reservoir Hosts and Niche Diversity
RpoS helps Borrelia burgdorferi survive in hosts and adapt to different environments.
research 520 Body site heterogeneity and microbial diversity is lost in individuals with hidradenitis suppurativa
People with Hidradenitis Suppurativa have less diverse skin bacteria and different bacterial metabolism than healthy individuals.
research Genetic association of complement component 2 polymorphism with systemic lupus erythematosus
The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
research Becker's Nevus with Ipsilateral Breast Hypoplasia: Improvement with Spironolactone
Spironolactone may help enlarge a small breast linked to Becker's nevus.
research CRABP2 Promotes the Proliferation of Dermal Papilla Cells via the Wnt/β-Catenin Pathway
CRABP2 helps increase the growth of cells important for hair growth by activating a specific growth pathway.
research YAP and TAZ are essential for basal and squamous cell carcinoma initiation
YAP and TAZ proteins are necessary for the development of two types of skin cancer.
research Basal Cell Carcinoma of the Head and Neck Region: A Retrospective Analysis of Completely Excised 331 Cases
Most people with basal cell carcinoma on their head or neck were 60-70 years old, and it often came back even after being fully removed, especially in certain areas and types.
research Bitemporal alopecia: A unique pattern variant of alopecia
The document concludes that "hot comb alopecia" is now called "central cicatricial centrifugal alopecia" and its causes are complex.
research CtBP1 Overexpression in Keratinocytes Perturbs Skin Homeostasis
Overexpressing CtBP1 in skin cells causes skin and hair problems.
research A variant of the glucocorticoid receptor gene is not associated with adrenal androgen excess in women with polycystic ovary syndrome
The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.
research PA13 A hair’s breadth from misdiagnosis
A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
research Becker nevus of the face with asymmetrical growth of beard hair
Certain gene variations may increase the risk of alopecia, and platelet-rich plasma treatment can improve hair density in those with hair loss; a rare case of facial Becker's nevus was linked to uneven beard growth.
research The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Immunohistochemical Pattern of CD34 Distribution in Different Types of Basal Cell Carcinoma and in Peritumoral Skin
CD34 is absent in most basal cell carcinoma cells but present in surrounding skin.
research N1-acetylspermidine is a determinant of hair follicle stem cell fate
N1-acetylspermidine promotes hair follicle stem cell self-renewal.
research Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dube syndrome
The boy likely has a fungal infection causing hair loss.
research Overexpression of spermidine/spermine N1-acetyltransferase under the control of mouse metallothionein I promoter in transgenic mice: evidence for a striking post-transcriptional regulation of transgene expression by a polyamine analogue
Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
research Are there temporal subtypes of premenstrual dysphoric disorder?: using group-based trajectory modeling to identify individual differences in symptom change
The study found three different timing patterns of symptoms in women with premenstrual dysphoric disorder.
research 839 Spatiotemporal antagonism in mesenchymal-epithelial Signaling in sweat versus hair fate decision
Sweat glands and hair follicles are determined by opposing signals, with BMPs promoting sweat glands and blocking BMPs leading to hair follicles.
research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research Síndrome do nevo de Becker
The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
research Autoimmune Polyglandular Syndrome Type 2 Presentation with Alopecia Universalis, Hashimoto’s Disease, and Addison’s Disease
Timely diagnosis and treatment of complex autoimmune diseases like APS2 are crucial to prevent complications and improve life quality.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research 551 Combining Laser Capture Microdissection and RNAseq Analysis to Generate a Human Anagen Hair Follicle Transcriptome Atlas
Researchers made a detailed map of gene activity for different parts of human hair follicles to help create targeted hair disorder treatments.
research BFNB Enhances Hair Growth in C57BL/6 Mice through the Induction of EGF and FGF7 Factors and the PI3K-AKT-β-Catenin Pathway
BFNB could be a promising treatment for hair growth.
research Placental mRNA expression of Neurokinin B is increased in PCOS pregnancies with female offspring.
Neurokinin B levels are higher in the placentas of women with PCOS who have female babies.