research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
Search
for
Sort by
Research
840-870 / 1000+ results 
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Clinical Case Notes. Intraorbital ophthalmic artery aneurysms
Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
research A Rare Case of Steroid Cell Tumor, Not Otherwise Specified (NOS), of the Ovary in a Young Woman
A young woman's rare ovarian tumor was successfully removed, improving her hormonal symptoms.
research Baldness, acne and testicular germ cell tumours
Men with testicular cancer were less likely to experience baldness and severe acne.
research Twenty‐nail dystrophy and alopecia areata in an adult male with thymoma‐associated myasthenia gravis: A case report
Thymoma may link myasthenia gravis, nail dystrophy, and alopecia areata.
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 Multicentric calcified trichilemmal cysts with alopecia universalis affecting siblings
Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
research SAT-478 Virilizing Adrenal Adenoma Co-secreting Cortisol and DHEA-S: A Case Report
Surgery improved symptoms and normalized hormone levels in a woman with an adrenal tumor.
research Post Menopausal Hyperandrogenism: A Case of a Steroid Cell Tumor of the Ovary
A woman's severe hormone imbalance after menopause led to finding a rare ovarian tumor, treated by surgery.
research THU646 Postmenopausal Hyperandrogenism Secondary To Ovarian Leydig Cell Tumor
A woman's increased facial hair and hair loss were caused by a rare ovarian tumor, cured by surgery.
research Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells
Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
research Bilateral madarosis due to papular mucinosis
Papular mucinosis can cause eyebrow hair loss, but treatment can lead to regrowth.
research Study of prevalence of metabolic syndrome in androgenetic alopecia
People with androgenetic alopecia are more likely to have metabolic syndrome.
research Transmasculine Hormone Therapy
Testosterone therapy for transmasculine individuals is generally safe with medical supervision, improves mental health, and has mixed effects on physical health.
research Learning from nudity: lessons from the nude phenotype
The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.
research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
research Sertoli-Leydig Cell Tumour of Ovary with Menorrhagia: A Rare Case Report
Sertoli-Leydig cell tumors are rare ovarian tumors that can cause symptoms like menorrhagia.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of primary amenorrhea and female delayed puberty
Primary amenorrhea and delayed puberty in females can be diagnosed and managed effectively.
research The TNFRSF1B Connection: Implications for Androgenetic Alopecia Pathogenesis and Treatment
Targeting the TNFRSF1B gene may help treat hair loss.
research Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research Lupus erythematosus, thyroiditis, alopecia areata and vitiligo – A multiple autoimmune syndrome type 3 case presentation
A 22-year-old with multiple autoimmune diseases needs a multidisciplinary treatment approach.
research Virilizing adrenocortical oncocytoma in a toddler
A toddler with a rare adrenal gland tumor causing male-like physical changes was successfully treated with surgery.
research The Molecular Basis of Androgen Insensitivity
Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
research Acanthosis nigricans, insulin resistance and cutaneous virilism
Patients with acanthosis nigricans often have insulin resistance and signs of increased male hormones, but treatment targeting these male hormones is generally ineffective.
research Acanthosis nigricans, insulin resistance and cutaneous virilism
The conclusion is that there's a link between high testosterone levels, insulin resistance, and certain skin conditions, regardless of obesity.
research Alopecia areata incognita in Cronkhite-Canada syndrome
The report suggests that hair loss in Cronkhite-Canada syndrome may be caused by alopecia areata incognita, as shown by a patient's improvement with treatment.
research Challenges in the Diagnosis of Simple-Virilizing Congenital Adrenal Hyperplasia: A Case Report
Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
research Hyperandrogenism in a Postmenopausal Woman Secondary to Testosterone Secreting Ovarian Stromal Tumor with Acoustic Schwannoma
A 63-year-old woman's male-like symptoms were caused by a rare testosterone-producing ovarian tumor, treated by removing her ovaries and fallopian tubes.