research Advances in the genetic understanding of hypohidrotic ectodermal dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
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270-300 / 1000+ results research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Unravelling a novel role for cannabidivarin in the modulation of subventricular zone postnatal neurogenesis
Cannabidivarin (CBDV) may help brain cell growth and survival through the TRPV1 receptor.
research Fetal Arrhythmia with a Myriad of Complications
Early diagnosis and management of congenital heart block in mothers with autoimmune conditions are crucial for improving neonatal outcomes.
research Common Dermatologic Disorders in Down Syndrome: Systematic Review
People with Down syndrome often have skin issues and need regular check-ups for early treatment.
research LB1682 Association of inflammatory and pigmentary disorders with alcohol use disorder and psychiatric illness
People with certain skin disorders are more likely to have alcohol problems, especially if they also have mental health issues like depression and anxiety.
research Extracellular vesicles in atopic dermatitis: unraveling pathogenic mediators and engineering therapeutic vectors
Extracellular vesicles can both worsen and potentially treat atopic dermatitis.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
research A randomized phase II trial on the addition of dutasteride to combined androgen blockade therapy versus combined androgen blockade therapy alone in patients with advanced or metastatic salivary duct carcinoma – the DUCT study protocol
Adding dutasteride to therapy may improve treatment for advanced salivary duct cancer.
research The utility of elastic Verhoeff-Van Gieson staining in dermatopathology
EVG staining is a valuable, simple, and cost-effective method for diagnosing various skin conditions in dermatopathology.
research Self-Organizing 3D Dermal Papilla Cell Spheroids Yield Therapeutic Extracellular Vesicles that Target Hypertrophic Scar Regression via the miR-26a-5p/CCNE2 Axis
3D cell spheroids can help reduce scars by delivering therapeutic vesicles.
research Case Report: Disorder of Sex Development 46, XY with Proximal Hypospadias in a 10-Year-Old Twin Boy: Disorder of Sex Development 46, XY with Proximal Hypospadias
A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
research Primary Vitreoretinal Lymphoma Presenting Solely with Asymptomatic Peripheral Drusenoid Lesions
Older patients with new retinal lesions may have cancer, and local radiation might not stop it from spreading.
research Macrophage Activation Syndrome/Secondary Hemophagocytic Lymphohistiocytosis in Adult‐Onset Still's Disease: An Uncommon Initial Presentation in a Young Nepalese Female: A Case Report
Timely and aggressive treatment is crucial for improving outcomes in severe complications of adult-onset Still's disease.
research SUN-287 A Case of Ectopic Neurohypophysis
The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
research Vorasidenib-Induced Trichomegaly and Hypertrichosis: a New Side Effect in a Patient with Diffuse Astrocytoma
Vorasidenib can cause unusual hair growth.
research Functional analysis of vitamin D receptor (VDR) using adenovirus vector
The study found that certain mutations in the vitamin D receptor can cause rickets and potentially affect hair growth.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Lentivirus-Mediated Expression of VEGF165 in Rat Hair Follicle Stem Cells
Rat hair follicle stem cells can be used to improve blood vessel growth in engineered skin.
research A novel finding of hair growth like vellus hairs on glabrous skin of distal phalanx of thumb in Vogt–Koyanagi–Harada disease: A case report
Vogt–Koyanagi–Harada disease can cause rare hair growth on normally hairless thumb skin.
research Case presentation: Catastrophic decrease in measured oxygen saturation associated with venoveno bypass during liver transplantation
Oxygen levels can drop during liver transplant if bypass pressures are too high, but other reasons should be checked first.
research Reversible alopecia in Vogt-Koyanagi-Harada disease and sympathetic ophthalmia
Alopecia can be reversed with timely steroid treatment in VKH and SO diseases.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research [Finasteride inhibits microvascular density and VEGF expression in the seminal vesicle of rats].
Finasteride reduces blood vessel formation in seminal vesicles.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Endocrine profile of the VCD-induced perimenopausal model rat
The rat model showed early perimenopause with regular cycles and low hormones, and late perimenopause with irregular cycles and higher hormone levels.
research Pseudo Pemphigus Phenotypes in Mice with Inactivated Desmoglein 3
Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.