research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
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research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Dermoscopy of discoid lupus erythematosus: Report of two cases
Dermoscopy helped diagnose discoid lupus erythematosus in two patients without needing skin biopsies.
research Alopecia Areata: An Overview
DPCP works best for alopecia areata, but more research is needed for better treatments.
research Prematüre Pubarş Olgularının Değerlendirilmesi: Tek Merkez Deneyimi
Careful diagnosis is crucial in premature pubarche cases, as 20% have other conditions.
research Post-Drug Syndromes: A Neglected Challenge in Pharmacovigilance and Public Health
Post-drug syndromes are often overlooked, and better systems and education are needed to improve drug safety.
research 11. Accelerated UIP: a special challenge
Diagnosing and treating rapidly worsening lung disease is difficult and requires better guidelines and understanding.
research Clinical case of a patient with progressive supranuclear palsy – from symptom to diagnosis
Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
research Reversible Hyperpigmentation: A Diagnostic Dilemma
Vitamin B12 deficiency can cause reversible skin darkening.
research Dengue-Associated Telogen Effluvium Causing Body Dysmorphic Disorder
Dengue fever can cause hair loss that may lead to serious psychological issues like Body Dysmorphic Disorder in young women.
research DHT deficiency perturbs the integrity of the rat seminiferous epithelium by disrupting tight and adherens junctions
DHT deficiency can disrupt cell connections in rat testes, possibly affecting fertility.
research Increased risk of severe course of pemphigus in patients with pemphigus‐associated alopecia: a prospective observational study
Pemphigus patients with alopecia have more severe and treatment-resistant disease.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development
The PP2A-B55α protein is essential for brain and skin development in embryos.
research Dermal Perifollicular Mineralization of Toy Poodle Bitches
Toy poodles may develop harmless mineral deposits around hair follicles as they age.
research Chronic Erosions and Alopecia: A Case of Erosive Pustular Dermatosis of the Scalp in an Elderly Male
Early recognition and treatment of EPDS are crucial to prevent permanent hair loss.
research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH
A genetic mutation in the LIPH gene causes hair loss and growth defects.
research Randomized Controlled Trial Study to Evaluate the Efficacy of Combination Therapy with Diphenylcyclopropenone and Platelet-Rich Plasmain Alopecia Areaata
Combining DPCP with PRP doesn't improve hair regrowth in alopecia areata.
research Нарушения фосфорно-кальциевого обмена у детей с хронической болезнью повек
Early phosphorus-calcium disorders in children with chronic kidney disease can lead to bone issues, highlighting the need for early bone density testing.
research Platelet-derived growth factor signaling modulates adult hair follicle dermal stem cell maintenance and self-renewal
PDGF signaling is crucial for maintaining and renewing hair follicle stem cells, which could help treat hair loss.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Lipoatrophy and severe metabolic disturbance in mice with fat-specific deletion of PPARγ
Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.
research Nonfebrile Seizures in Pediatrics: Key Points to Remember
Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research Role of Vitamin D in Female Pattern Hair Loss Among Iraqi Women: A Case- Control Study
Low vitamin D levels may contribute to female pattern hair loss.
research Cutaneuos findings in patients with predialysis chronic kidney disease
Almost all patients with chronic kidney disease not yet on dialysis have at least one skin problem.
research The misogyny of iron deficiency
Iron deficiency in women is common, often overlooked, and needs better recognition and treatment.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.