research Polycystic Ovary Syndrome in Childhood: Diagnostic and Therapeutic Challenges
Diagnosing and treating PCOS in young people is difficult.
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research A Case of Rhupus with Rowell Syndrome
A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
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 Nevus psiloliparus: Newly described histopathological features from transverse sections
Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
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 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 Papilledema and Hypervitaminosis A
Excessive vitamin A can cause symptoms that mimic serious brain conditions.
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 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 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 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 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 Cutaneous sarcoidosis masquerading as papular amyloidosis revealed post--hair removal
Skin problems after waxing led to a sarcoidosis diagnosis.
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.
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 Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Precocious Puberty
Early sexual development in children, especially girls, can be treated with hormone therapy to improve adult height and requires support for the child and family.
research Association of follicle-stimulating hormone receptor gene ser680 asn (rs6166) polymorphism with polycystic ovarian syndrome
A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
research Unilateral Thalamic Infarction Associated with Rupture of Dissecting Posterior Cerebral Artery in Childhood-Onset Systemic Lupus Erythematosus: A Case Report
A 16-year-old boy with lupus had a rare brain artery issue but fully recovered with treatment.
research Delayed Puberty
Delayed puberty affects some teens, and early treatment with hormones can help improve their growth and social well-being.
research Loose anagen syndrome in one identical twin girl
One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
research Prevention of Frey syndrome with superficial temporal fascia interpositioning: a retrospective study
Using superficial temporal fascia helps prevent Frey syndrome after parotid surgery.
research MON-080 Cushing Disease Secondary To Rathke’s Cleft Cyst
Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.