research Philological Obfuscation
The author believes that giving medical conditions official names can sometimes overwhelm or scare patients.
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research Hội chứng chuyển hoá và các yếu tố liên quan ở bệnh nhân rụng tóc nội tiết tố androgen
Androgenetic alopecia patients have a higher risk of metabolic syndrome.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research Alopecia Universalis with Frequently Relapsing Nephrotic Syndrome of Infantile Onset: A Rare Presentation
A rare case links early-onset alopecia universalis and nephrotic syndrome, suggesting genetic immune issues.
research KERATOSIS FOLLICULARIS WITH UNUSUAL INVOLVEMENT OF THE SCALP
A rare case of severe scalp hair loss and nail issues in keratosis follicularis was observed.
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 Renbök phenomenon: Alopecia areata sparing psoriasis plaques
Alopecia areata does not affect areas with psoriasis plaques.
research Woolly hair generalizado: caso clínico e revisão da literatura
Woolly hair is a rare genetic condition with no effective treatments.
research Diagnosing polycystic ovary syndrome
PCOS is diagnosed when at least two of these three features are present: polycystic ovaries, irregular ovulation, and high androgen levels.
research Clinical Case Notes. Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene causes monilethrix in a Han family.
research Association between stress and bilateral symmetrical alopecia in free-ranging Formosan macaques in Mt. Longevity, Taiwan
Stress is likely causing hair loss in Formosan macaques.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Hyperandrogenism in Women: Polycystic Ovary Syndrome
The document concludes that more research is needed to create suitable diagnostic criteria and understand PCOS in Korean women, and genetics may allow for personalized treatment.
research A 36-Year-Old Woman With an Unexpected Cause of Hypokalemia
A 36-year-old woman with low potassium levels was found to have Cushing disease, and after treatment, her potassium levels normalized.
research Congenital Combined Melanocytic Nevus of the Scalp With Associated Alopecia Areata
A man with a birthmark on his scalp developed hair loss that improved with treatment, but the link between the birthmark and hair loss was unclear.
research Masquerading of trichotillomania in a family with monilethrix
It's important to consider genetic hair disorders when diagnosing hair loss.
research Presence of iron in segmented heterochromia of the scalp hair without iron-deficiency anaemia
Iron can be present in hair color changes without overall iron deficiency.
research Melasma and Endocrine Disorders
Melasma is a skin condition linked to female hormones, genetics, UV exposure, and certain medications, but not to pituitary, adrenal, or thyroid diseases.
research POLYCYSTIC OVARY SYNDROME: DIVERSE CLINICAL PRESENTATIONS ACROSS ADOLESCENCE, REPRODUCTIVE AGE, AND MENOPAUSE
PCOS symptoms vary by age, affecting diagnosis and treatment.
research Targeted Skin Overexpression of the Mineralocorticoid Receptor in Mice Causes Epidermal Atrophy, Premature Skin Barrier Formation, Eye Abnormalities, and Alopecia
Overexpressing the mineralocorticoid receptor in mouse skin causes skin thinning, early skin barrier development, eye issues, and hair loss.
research Deficiency of kinase suppressor of Ras1 prevents oncogenic ras signaling in mice.
Lack of KSR1 stops certain skin tumors in mice.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Renal Carcinoma Presenting with Adrenocortical Insufficiency Due to a Pituitary Metastasis
A man's adrenal insufficiency was caused by a pituitary tumor linked to kidney cancer.
research Polycystic Ovary Syndrome and Its Differential Diagnosis
The document concludes that correct diagnosis and management of PCOS are important, and more research is needed on its risks and treatments.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research Scarring alopecia and scalp pruritus
The text talks about a rare skin condition causing hair loss and suggests that people with this should also check their lung and heart health.
research Sinus Node Dysfunction in a Child After Developed by the Use of Topical Minoxidil
Topical minoxidil can cause serious heart issues in children.