research Navigating Diagnostic Uncertainty: Frontal Fibrosing Alopecia Versus Keratosis Pilaris Atrophicans Faciei With Genetic Testing Insights
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.
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750-780 / 1000+ results research Acute inflammatory demyelinating polyneuropathy associated with pegylated interferon α 2a therapy for chronic hepatitis C virus infection
Pegylated interferon-alpha 2a can cause a rare nerve disorder, but early treatment can lead to full recovery.
research Outcomes in Clinically Relevant Patient Subgroups From the EMBRACA Study: Talazoparib vs Physician’s Choice Standard-of-Care Chemotherapy
Talazoparib is more effective than standard chemotherapy for advanced breast cancer with BRCA mutations.
research Mucocutaneous manifestations of acquired hypoparathyroidism: An observational study
Most patients with acquired hypoparathyroidism after neck surgery had hair, nail, and skin issues.
research Atrichia with papular lesions in Syrian siblings exposing global diagnostic challenges in genetic alopecia: A rare case report
Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.
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 062 A case of autoimmune facial swelling, weakness and sensorineuropathy with lower limb myositis
The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
research Polycystic Ovary Syndrome in Childhood: Diagnostic and Therapeutic Challenges
Diagnosing and treating PCOS in young people is difficult.
research Pseudopelade of Brocq
Pseudopelade of Brocq is a unique hair loss condition, but its cause and development are still not fully understood.
research POLİKİSTİK OVER SENDROMU'NUN ALT GRUPLARINDA METABOLİK ÖZELLİKLER
Different PCOS subgroups have similar metabolic features, but those without menstrual problems have milder issues.
research Grahams Little Piccardi Lausseur Syndrome - A Rare Case Report with Review of Literature
Early diagnosis of GLPLS is crucial to prevent complications, but scarring alopecia is irreversible.
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research Nevus psiloliparus: Newly described histopathological features from transverse sections
Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Comparing classic and newer phenotypes in Greek PCOS women: the prevalence of metabolic syndrome and their association with insulin resistance.
Greek women with classic PCOS are more likely to have metabolic syndrome and insulin resistance than those with newer PCOS types.
research Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research A linear and reticulate crusted keratotic papulopustular eruption: a rare presentation of PRIDE (Papulopustules and/or paronychia, Regulatory abnormalities of hair growth, Itching, and Dryness due to Epidermal growth factor receptor inhibitors) complex
A rare skin reaction from cancer treatment was successfully managed with topical treatments and antihistamines.
research Papilledema and Hypervitaminosis A
Excessive vitamin A can cause symptoms that mimic serious brain conditions.
research Concurrent autoimmune and endocrine dysregulation in polycystic ovary syndrome
Autoimmune markers may help diagnose and manage PCOS.
research P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases
ECCL should be considered in patients with specific skin and eye lesions.
research Schimmelpenning syndrome with dydimosis aplasticosebacea in a one-month-old girl
Older men's scalp damage increases with age and sun exposure, a baby girl in the Philippines has Schimmelpenning syndrome, and thyroid screening is advised for children with hair loss and certain risk factors.
research Anti-Müllerian Hormone and Ovarian Morphology in Polycystic Ovary Syndrome (PCOS)/Polyendocrine Metabolic Ovarian Syndrome (PMOS): Toward More Precise Diagnosis and Phenotype Stratification
AMH and ovarian morphology help diagnose and understand PCOS more precisely.
research No mucosal involvement in a patient with paraneoplastic pemphigus associated with thymoma and myasthenia gravis
The patient had paraneoplastic pemphigus without mucosal involvement.
research Pili torti in association with citrullinemia
A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
research Secondary Amenorrhea in a 15-year-old Girl
A 15-year-old girl with missed periods was diagnosed with a pituitary disorder and treated with hormones and steroids.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Polycystic Ovarian Syndrome
Polycystic Ovarian Syndrome (PCOS) is a common condition causing fertility issues and other symptoms, with unclear causes and treatments focused on improving insulin sensitivity.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.