research [Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?].
The boy's symptoms suggest a possible new medical condition.
Search
for
Sort by
Research
210-240 / 1000+ resultsresearch Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research A case of antilaminin 332 mucous membrane pemphigoid showing a blister on the bulbar conjunctiva and a unique epitope on the α3 subunit
A woman with a rare autoimmune disorder had a blister on her eye and unique immune reaction, which was effectively treated with medication.
research LAMELLAR ICHTHYOSIS: ONE CASE REPORT
Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
research Unusual non-infectious cause of meningitis
A woman had meningitis caused by mixed connective tissue disease, not an infection.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research A Study on the Clinical Profile and Pharmacogenetics of Methotrexate Treatment in Patients with Rheumatoid Arthritis.
The 1298CC genotype in RA patients leads to higher methotrexate toxicity, while the 1298AA genotype results in better treatment response.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research Steroid-sparing effect of mycophenolate mofetil in the treatment of a subepidermal blistering autoimmune disease in a dog : clinical communication
Mycophenolate mofetil helped reduce steroid use in treating a dog's autoimmune skin disease.
research Treatment of Del(5q) Myelodysplastic Syndrome with All-Trans-Retinoic Acid and Tocopherol-α.
The treatment was not recommended due to limited effectiveness and significant side effects.
research Necrolytic Migratory Erythema in a Cat with Glucagonoma Syndrome
A cat with a rare pancreatic tumor and diabetes died despite treatment, showing similar symptoms to a human condition.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Monilethrix with Acitretin
Acitretin improved monilethrix symptoms temporarily, but they returned after stopping treatment.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
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 L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research Low-Dose Systemic Methotrexate Therapy for Recalcitrant Alopecia Areata
Low-dose methotrexate effectively regrows hair in many alopecia areata patients but can cause some side effects.
research DNMT1-mediated methylation inhibits microRNA-214-3p and promotes hair follicle stem cell differentiate into adipogenic lineages
DNMT1 helps turn hair follicle stem cells into fat cells by blocking a specific microRNA.
research [Studies on monilethrix].
Monilethrix is not caused by a metabolic defect.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research Marie-unna hereditary hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Spinal and bulbar muscular atrophy: pathogenesis and clinical management
Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
research ASSOCIATION OF VITAMIN B12 DEFICIENCY AND MUCO-CUTANEOUS FINDINGS IN DERMATOLOGY: A CASE-CONTROL STUDY
Vitamin B12 deficiency is linked to hair loss and skin pigmentation changes.
research Efficacy and tolerability of methotrexate in severe childhood alopecia areata
Methotrexate sometimes helps regrow hair in children with severe alopecia areata and is generally safe.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Transcriptome Analysis of Skin from SMP30/GNL Knockout Mice Reveals the Effect of Ascorbic Acid Deficiency on Skin and Hair
Vitamin C deficiency changes gene expression, affecting skin and hair health.
research Epithelial loss of mitochondrial oxidative phosphorylation leads to disturbed enamel and impaired dentin matrix formation in postnatal developed mouse incisor
Mitochondrial problems in tooth cells lead to bad enamel and dentin development in mice.
research Vitamin B 12 Deficiency: A Rare Cause of Excessive Daytime Sleepiness
Vitamin B12 deficiency can rarely cause excessive daytime sleepiness.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.