research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
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research Drug eruptions in dermatology
Skin reactions to drugs are common and can be deadly, usually requiring stopping the drug and may be better prevented with genetic testing in the future.
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 Polycystic ovary syndrome
PCOS is a condition causing irregular periods, excess male hormones, and infertility, often managed by targeting insulin resistance and specific symptoms.
research Endocannabinoid activation and polycystic ovary syndrome: A systematic review
CBD may help reduce stress and pain in women with PCOS.
research A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation
The combined treatment effectively managed severe skin issues in Olmsted syndrome.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research Síndrome de ovario poliquístico
PCOS is a common disorder in women causing hormonal imbalance and fertility issues, often managed with lifestyle changes and medication.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
research Hutchinson-gilford progeria syndrome and its relevance to cardiovascular diseases and normal aging.
Research on Hutchinson-Gilford progeria syndrome could help understand normal aging and heart disease.
research Papillon-Lefévre Syndrome: A Rare Case Report and a Brief Review of Literature
Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
research Lean Women with Polycystic Ovary Syndrome
PCOS in lean women is a serious health condition with implications beyond fertility, affecting metabolism and increasing cardiovascular disease risk.
research LEKTI: Netherton Syndrome and Atopic Dermatitis
LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
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 A Comprehensive Review of Management of Patients with Infertility having Polycystic Ovarian Syndrome
PCOS-related infertility is managed with lifestyle changes and medications.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
research Polycystic Ovary Syndrome: Clinical Presentation, Diagnostic Challenges, and Evolving Management Approaches
Early detection and comprehensive care improve long-term health in PCOS.
research Parry-Romberg Syndrome: A Rare Case with Diagnostic Challenges and Orthodontic Implications
Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
research P-12 ACTH-INDEPENDENT CUSHING SYNDROME WITH INCONCLUSIVE ADRENAL CT SCAN RESULTS
Ketoconazole improved symptoms of ACTH-independent Cushing syndrome despite inconclusive initial scans.
research THE MULTIFACETED APPROACH TO POLYCYSTIC OVARIAN SYNDROME: A REVIEW OF TRADITIONAL AND ALLOPATHIC MEDICINE
PCOS management benefits from combining traditional herbs, modern medicine, and lifestyle changes.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research From Hair-Pulling to Trichobezoars and Rapunzel Syndrome: A Comprehensive Review of Trichotillomania
Trichotillomania is an obsessive-compulsive disorder causing hair pulling, needing complex treatment to prevent serious issues.
research Post‐finasteride syndrome: real or myth?
Post-finasteride syndrome is rare but serious and should be taken seriously.
research A review of hyperandrogenism state in polycystic ovarian syndrome
Polycystic ovary syndrome causes high male hormone levels, leading to symptoms like excess hair, acne, and fertility problems.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research Polycystic Ovarian Syndrome (PCOS)
PCOS is a hormonal disorder in women with no cure, managed by medication and lifestyle changes.
research Contemplation on Polycystic Ovarian Syndrome
PCOS is a common hormonal disorder in women, causing symptoms like acne and irregular periods, and is managed with medication and lifestyle changes.
research Progress in Diagnosis and Treatment of Polycystic Ovary Syndrome with Traditional Chinese and Western Medicine
Combining Traditional Chinese Medicine and Western medicine can improve symptoms, hormone levels, and pregnancy outcomes in Polycystic Ovary Syndrome patients, but more research is needed.