research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
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690-720 / 1000+ resultsresearch Advances in Cell-Mediated Drug Delivery for Dermatologic Diseases: Mechanisms and Current Applications
Cell-mediated drug delivery systems improve skin disease treatment by using living cells for precise, prolonged, and less toxic therapy.
research Genetic disorders of keratin: are scarring alopecias a sub-set?
Keratin mutations may cause scarring alopecia by damaging hair structure.
research Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage
A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
research Dermoscopy before and after treatment of cutaneous larva migrans: Through the dermoscope
Dermoscopy may not show hookworms clearly, and comparing it with tissue studies could improve diagnosis accuracy for skin conditions caused by parasites.
research Androgenetic alopecia risk IDed with genetic test
research Disease causing homozygous variants in the human hairless gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research The relationship between Homeostatic Model Assessment Insulin Resistance (HOMA-IR) values and pilonidal sinus disease in female adolescents: A retrospective study
High insulin levels may increase the risk of pilonidal sinus disease in female teens.
research Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research Development of Pilomatrixoma at the Vaccination Site: A Rare Complication of COVID-19 Vaccination – A Case Report
A man developed a benign tumor at his COVID-19 vaccination site, which was successfully removed with surgery.
research Advances in transdermal siRNAs delivery: A review of current research progress
New delivery systems are improving siRNA treatments for skin conditions.
research Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
research Mechanisms of vascular maturation and maintenance captured by longitudinal imaging of live mouse skin
Neonatal blood vessels rearrange and stabilize as adults, with adult vessels better at self-repair after injury.
research Acquired perforating dermatosis in renal and diabetic patients
Acquired perforating dermatosis often affects skin in people with kidney issues and diabetes.
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
research Inflammasome Proteins as Biomarkers of Injury and Disease
Inflammasome proteins can indicate the severity and treatment response of various diseases and injuries.
research Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss
A gene variant increases the risk of a type of hair loss by affecting hair protein production.
research Central Centrifugal Cicatricial Alopecia Associated With PDL1 Loss and Increased Expression of Caspase 3: A Case Series
CCCA may involve the PD1/PDL1 pathway and increased caspase 3, leading to permanent hair loss.
research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research Diagnostic applications and therapeutic option of Cascade CRISPR/Cas in the modulation of miRNA in diverse cancers: promises and obstacles
CRISPR/Cas systems show promise for cancer treatment by targeting miRNAs, but delivery and specificity challenges remain.
research Particle-based transcutaneous administration of HIV-1 p24 protein to human skin explants and targeting of epidermal antigen presenting cells
This method is effective for needle-free HIV-1 vaccination by activating immune responses in the skin.
research Unravelling Trichilemmal Carcinoma: A Rare Scalp Malignancy with Diagnostic Dilemmas and Its Multifaceted Management
Trichilemmal carcinoma is a rare skin cancer that requires careful diagnosis and follow-up.
research The molecular puzzle of autoinflammatory skin diseases—a review of chosen conditions
Autoinflammatory skin diseases are complex, increasingly common, and significantly affect quality of life.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Alopecia Areata is associated with MICA and an extended HLA haplotype
Certain genes are linked to the risk of developing Alopecia Areata.
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Male-Pattern Baldness in Men with X-Linked Recessive Ichthyosis
Men with X-linked recessive ichthyosis can still experience male-pattern baldness.
research Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report
A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.