research Rheumatoid arthritis and gouty arthritis in an adult patient with Down's syndrome
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
Search
for
Sort by
Research
810-840 / 1000+ results research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Visual Vignette
A 13-year-old boy with Cushing syndrome has high cortisol levels from a pituitary gland issue and underdeveloped sexual characteristics.
research Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
research 5-Alpha-reductase deficiency in a Saudi "girl"
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
research Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency
Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
research Multifocal alopecia of the scalp, axillae, and body
A young man was diagnosed with a rare hair loss condition usually seen in older women.
research A rare clinical image of hypertrichosis (Werewolf syndrome)
Hypertrichosis causes excessive hair growth and needs psychological support due to its impact on self-esteem.
research Ichthyosis linearis circumflexa in a child. Response to narrowband UVB therapy.
Narrowband UVB therapy significantly improved a child's rare skin condition.
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 Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype
Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
research SAT-369 Marine-Lenhart Syndrome: Case Report
Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research Association of AR rs6152G/A gene polymorphism with susceptibility to polycystic ovary syndrome in Chinese women
A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
research Coexisting trichorrhexis nodosa and pili annulati: a case report of hair shaft abnormalities in a syrian family
A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
research Moniletherix
Monilethrix causes short, fragile hair with no specific treatment available.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
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 Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis
Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
research Multibacillary leprosy with positive serology misdiagnosed as systemic lupus erythematosus
A woman was wrongly diagnosed with lupus but actually had leprosy.
research Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review
Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
research 5PSQ-117 Effectiveness of baricitinib in alopecia areata
Baricitinib effectively treats alopecia areata, with over half of patients improving after 52 weeks.
research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
research Parry-Romberg Syndrome Augmented by Hyaluronic Acid Filler
Hyaluronic acid filler can safely and effectively improve facial contour in Parry-Romberg Syndrome.
research Importancia de la pseudopelada de Brocq en la práctica de la medicina estética capilar
La detección temprana y precisa de la pseudopelada de Brocq es crucial para detener su progresión.
research Data_Sheet_1_Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice.docx
Disrupting the Hars2 gene in mice causes hearing loss due to mitochondrial problems and hair cell damage.
research Identification of Somatic KRAS Mutation in a Korean Baby with Nevus Sebaceus Syndrome
A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.