research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
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330-360 / 1000+ resultsresearch Impaired Fetal Lung Development can be Rescued by Administration of Extracellular Vesicles Derived from Amniotic Fluid Stem Cells
Extracellular vesicles from amniotic fluid stem cells can improve underdeveloped fetal lungs.
research EFFECT OF ANTIANDROGENS ON VALPROIC ACID-INDUCED NEURODEVELOPMENTAL CHANGES IN RATS
Antiandrogens help improve developmental delays caused by valproic acid in rats.
research Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Primary Essential Cutis Verticis Gyrata: A Case Report with a Review of Literature
Primary essential CVG is a rare, benign scalp condition with treatment focusing on symptom management and hygiene.
research Common Dermatologic Disorders in Down Syndrome: Systematic Review (Preprint)
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.
research Angioedema After Squaric Acid Treatment in a 6‐Year‐Old Girl
A 6-year-old girl had a rare allergic reaction to a hair regrowth treatment.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research Cellular activation pathways and interaction networks in vascularized composite allotransplantation
Understanding cellular interactions in VCA may lead to better treatments and reduce rejection.
research Proliferative diabetic retinopathy as onset of type 1 diabetes
A girl with type 1 diabetes developed a serious eye condition very early, suggesting the need for earlier eye checks and that early treatment can work well.
research Videodermoscopy in the evaluation of hair and scalp disorders
Videodermoscopy improves diagnosis of hair and scalp disorders and may reduce scalp biopsies.
research Pleural Effusion Associated With Divalproex Sodium
Divalproex sodium can cause pleural effusion, which stops when the drug is discontinued.
research Intra-ovarian Doppler artery indices values in cases with polycystic ovarian syndrome: a case control study
Doppler ultrasonography can effectively detect blood flow changes in women with PCOS.
research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research SCF increases in utero–labeled stem cells migration and improves wound healing
SCF helps heal diabetic wounds by promoting stem cell migration.
research 7410 Bevacizumab Induced Hypothyroidism
Bevacizumab may worsen hypothyroidism, so thyroid function should be monitored during treatment.
research A 14-Year-Old Boy with Lower Extremity Swelling and Petechial Rash
The boy's symptoms improved with vitamin C treatment, highlighting the need to consider scurvy in kids with unusual diets.
research Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality
The ZIP13 variant is linked to abnormal hair quality.
research Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Periaortic venous necklace and renal right double arteries; Case report
The study found a unique vein pattern around the aorta and two arteries in the right kidney.
research Eruptive syringomas in Down’s syndrome
People with Down's syndrome are more likely to have syringomas.
research Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D–dependent rickets type 2A: a case report
Calcium supplements improved bone deformities but not skin papules or hair loss.
research Rare Case of Cutis Vertex Gyrata
A 21-year-old male has a rare scalp condition with excessive skin folds.
research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research From local to systemic: endoscopic findings reshape the diagnostic paradigm of satoyoshi syndrome – a case report
Endoscopic evaluation is crucial for diagnosing complex conditions like Satoyoshi syndrome.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research The development and validation of the hair shedding visual scale for Asian women (HSVS‐A)
The HSVS-A is an effective tool for quickly screening hair shedding in Asian women.
research Dermatoscopy case of the month: Trichodysplasia spinulosa
A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.