research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
Search
for
Sort by
Research
150-180 / 182 results
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research Paraproteinemic Keratopathy: Recognizing the Ocular Significance
Paraproteinemic keratopathy can show eye symptoms before other signs of disease, needing careful treatment and long-term follow-up.
research Differential Diagnosis of Headache and Vertigo: Topical Minoxidil Self-Medication Should Be Considered
Discontinuing topical minoxidil can resolve headaches and dizziness.
research Enteropathica Acrodermatitis Complicated by Necrotising Fasciitis in an Infant Admitted to the Paediatric Emergency Department of the Gabriel Touré University Hospital
A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
research A Rare Case of Keratosis Follicularis Spinulosa Decalvans Affecting a Female Child
A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
research Understanding, Recognizing, and Managing Toxicities of Targeted Anticancer Therapies
Targeted anticancer therapies can cause severe side effects similar to traditional chemotherapy, but with different types.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research British Association of Dermatologists Guidelines on the Efficacy and Use of Acitretin in Dermatology
Acitretin is effective for severe skin conditions but has significant side effects and requires careful monitoring.
research Polycystic Ovary Syndrome: A Comprehensive Review of Pathogenesis, Management, and Drug Repurposing
PCOS management includes lifestyle changes and medications, with ongoing research into repurposed drugs for better treatment options.
research Oral Isotretinoin for Acne
Oral isotretinoin may slightly improve acne but increases the risk of side effects like dry lips and skin; more research is needed to understand its full risks and benefits.
research The Ins and Outs of Laser Hair Removal: A Mini Review
Laser hair removal is popular for long-term hair reduction but carries risks, requiring well-trained operators and better regulations, especially in South Africa.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Comparing the Frequency of Isotretinoin-Induced Hair Loss at <0.5 mg/kg/d Versus ≥0.5 mg/kg/d Dosing in Acne Patients: A Systematic Review
Higher doses of isotretinoin may lead to more hair loss.
research Cyclosporine A-Induced Intracranial Thrombotic Complications: Systematic Review and Case Report
Cyclosporine-A can cause serious blood clots in the brain, so patients need careful monitoring.
research Key Factors in the Complex and Coordinated Network of Skin Keratinization: Their Significance and Involvement in Common Skin Conditions
Understanding keratinization is crucial for treating skin conditions like ichthyoses and psoriasis.
research Postural Orthostatic Tachycardia Syndrome: A Dermatologic Perspective and Successful Treatment with Losartan
Losartan may help treat Postural Orthostatic Tachycardia Syndrome (POTS) symptoms.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research Comparative Characterization of Human Meibomian Glands, Free Sebaceous Glands, and Hair-Associated Sebaceous Glands Based on Biomarkers, Analysis of Secretion Composition, and Gland Morphology
Meibomian glands are highly specialized and differ significantly from other sebaceous glands in structure and function.
research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Alopecias: Practical Tips for the Management of Biopsies and Main Diagnostic Clues for General Pathologists and Dermatopathologists
The document concludes that understanding hair follicle histology and the hair cycle is crucial for diagnosing alopecia.
research Commonly Associated Disorders With Complete Scalp Alopecia in Early Childhood: A Review
Six genetic conditions are often linked to complete scalp hair loss in children.
research 1,314
The convention highlighted the importance of comprehensive patient care and early diagnosis in dermatology.
research Expansion of the Spectrum of ITGB6-Related Disorders to Adolescent Alopecia, Dentogingival Abnormalities, and Intellectual Disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research Dilated Tonic Pupils with Tabes Dorsalis in Neurosyphilis as First Manifestation of HIV/AIDS: A Video Report
Dilated pupils can be an early sign of HIV/AIDS.
research Cicatricial (Scarring) Alopecias: Comprehensive Review and Management
Scarring alopecias are complex hair loss disorders that require early treatment to prevent permanent hair loss.