research Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
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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 Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Inherited disorders of the skin in human and mouse: from development to differentiation.
Research on skin disorders in humans and mice has improved understanding of hair and skin development.
research Experience with sonidegib in patients with advanced basal cell carcinoma: case reports
Sonidegib effectively treated advanced basal cell carcinoma with mild side effects.
research 139 Anti-BCC efficacy of a topical hedgehog inhibitor without adverse effects in BCNS patients in a phase 2 randomized controlled trial
Topical patidegib gel effectively treats basal cell carcinoma in Gorlin syndrome patients without causing the side effects seen with oral treatments.
research 1322 A non-cell autonomous dermal hedgehog signaling mechanism for follicular neoplasia and induction
Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
research BRITISH ASSOCIATION OF DERMATOLOGY.
The meeting discussed various skin conditions, treatments, and unusual cases, highlighting the effectiveness of tetracycline in treating rosacea.
research Experiences with Smo antagonist vismodegib for the treatment of locally advanced basal cell carcinoma
Vismodegib effectively treats advanced basal cell carcinoma but requires careful management of serious side effects.
research GAPO syndrome – Report of a rare case and review
GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
research Polycystic Ovary Syndrome and Cardiovascular Disease: A Premature Association?
While PCOS might increase the risk of heart disease, there's not strong evidence to prove it causes earlier heart problems.
research Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report
A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
research PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
research The pathophysiology of polycystic ovary syndrome
Insulin resistance is a key factor in polycystic ovary syndrome, but genetics may also contribute.
research Cardiovascular risk factors in young Czech females with polycystic ovary syndrome
Young Czech women with PCOS have a higher risk of heart problems and should be regularly checked for cholesterol and glucose issues.
research Cardiac flow parameters with conventional and pulsed tissue Doppler echocardiography imaging in patients with polycystic ovary syndrome
Young women with PCOS and no other heart risk factors have normal heart function.
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 Post-finasteride syndrome and post-SSRI sexual dysfunction: two sides of the same coin?
PFS and PSSD are similar conditions with persistent sexual dysfunction after stopping medication.
research Post-finasteride syndrome: An emerging clinical problem
Post-finasteride syndrome causes lasting sexual, neurological, and physical side effects in some people after taking finasteride.
research Polycystic ovary syndrome and risks for COVID-19 infection: A comprehensive review
Women with PCOS have a higher risk of severe COVID-19 due to related health issues.
research Trazodone by epigenetic mechanism can reverse the post finasteride syndrome
Trazodone might help reverse post finasteride syndrome.
research Trazodone and chlorpromazine a proposal treatment for syndrome post-finasteride and syndrome of post-selective serotonin reuptake inhibitors (post-SSRI)
Trazodone and chlorpromazine may help treat sexual dysfunction caused by finasteride and SSRIs.
research Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research Investigation of the Plausibility of 5-Alpha-Reductase Inhibitor Syndrome
The document concludes that sexual and psychiatric side effects from 5-alpha-reductase inhibitors are reported, but more high-quality research is needed to understand how often they occur.
research Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research British Society for Paediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Congenital atrichia and hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
research Metabolism and skin diseases
Skin health and diseases are closely linked to metabolic processes.
research Polycystic Ovary Syndrome and the Metabolic Syndrome Long-Term Risks
Women with PCOS have higher risks of heart disease, type 2 diabetes, and endometrial cancer.