research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
Search
for
Sort by
Research
690-720 / 1000+ results research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Erosive pustular dermatosis of the scalp: challenges and solutions
Early treatment of EPDS can improve outcomes and reduce recurrence risk.
research Minoxidil and bilateral central serous chorioretinopathy in an adolescent girl: relationship or causality?
Minoxidil might cause eye issues, so early detection is important.
research Pityriasis rosea as a leading manifestation of COVID‐19 infection
research Iron-Deficiency Anemia During Childhood
Children need early diagnosis and treatment for iron-deficiency anemia to prevent learning problems and promote health.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research Preliminary toxicity profile of arotinoids SMR-2 and SMR-6 in male B6D2F1 mice*1
SMR-2 and SMR-6 are much more toxic than retinoic acid, causing severe side effects.
research Dermatological findings in common rheumatologic diseases in children
Children with different rheumatologic diseases have specific skin symptoms that can help with diagnosis.
research Efficacy and safety of ritlecitinib in Asian patients with alopecia areata: A subgroup analysis of the ALLEGRO phase 2b/3 trial
Ritlecitinib is effective and safe for hair regrowth in Asian patients with alopecia areata.
research Rickets with Alopecia Signals Vitamin D Dependent Rickets Type II
A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.
research Mice lacking the epidermal retinol dehydrogenases SDR16C5 and SDR16C6 display accelerated hair growth and enlarged meibomian glands
Mice without certain skin enzymes have faster hair growth and bigger eye glands.
research 186 Mechanistic insights into Ritlecitinib-mediated immunomodulation in Alopecia Areata
research EDA2R Is Associated with Androgenetic Alopecia
EDA2R gene linked to hair loss.
research Ultra‐structural hair alterations in F riedreich's ataxia: A scanning electron microscopic investigation
Friedreich's ataxia causes thin, weak hair with surface damage and cavities.
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 Biophysical basis of skin cancer margin assessment using Raman spectroscopy
Raman spectroscopy could effectively guide skin cancer surgery by identifying tumor margins.
research P448: Identification of a novel RPS6KA3 variant in a female child with features of Coffin-Lowry syndrome: A case study
A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.
research Painted Butterfly Rash: The Red Queen Effect in a Rembrandt Portrait
The painting may show signs of lupus, like a butterfly-shaped rash.
research P44 The presentation of systemic erythematous lupus with Kikuchi-Fujimoto disease
A woman with lupus and Kikuchi-Fujimoto disease improved with treatment.
research Integrated Safety Analysis of Ritlecitinib, an Oral JAK3/TEC Family Kinase Inhibitor, for the Treatment of Alopecia Areata from the ALLEGRO Clinical Trial Program
Ritlecitinib is safe and well-tolerated for treating alopecia areata in patients aged 12 and older.
research The effects of low-dose radiation therapy in patients with mild-to-moderate Alzheimer's dementia: an interim analysis of a pilot study
Low-dose radiation therapy may improve brain function in some Alzheimer's patients and is generally well-tolerated.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Mechanism of action of NLRP3 protein macromolecule based on electrochemical sensors in the treatment of alopecia areata in mice: The role of Ritlecitinib in AA mice through NLRP3
research Discrimination between basal cell carcinoma and hair follicles in skin tissue sections by Raman micro-spectroscopy
Raman micro-spectroscopy can help distinguish basal cell carcinoma from hair follicles in skin tissue.
research Dandelion-Derived Carbon Dots with pH-Responsive Charge and Dual ROS Regulation for Anti-Infection and Accelerated Wound Repair
Dandelion-derived carbon dots effectively kill bacteria and speed up wound healing.
research Programmable Artificial Skins Accomplish Antiscar Healing with Multiple Appendage Regeneration
Artificial skin can heal wounds without scars and regenerate hair, oil, and sweat glands.
research Epigenetic regulation of 5α reductase-1 underlies adaptive plasticity of reproductive function and pubertal timing
Environmental factors affect reproductive traits by altering the SRD5A1 gene.