research Autoimmune Polyendocrine Syndrome Type 1: An Italian Survey on 158 Patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
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research Nonclassic Congenital Adrenal Hyperplasia: Pathophysiology, Genetics, and Management
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
research Cystathionine Beta-Synthase-Deficient Mice Thrive on a Low-Methionine Diet
Mice with CBS deficiency are healthier on a low-methionine diet.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Thyroid Hormone Action on Skin
Thyroid hormones affect skin texture, hair and nail growth, and can cause skin diseases related to thyroid problems.
research Metabolism and Skin Diseases
Skin health and diseases are closely linked to metabolic processes.
research Skin Features in Myotonic Dystrophy Type 1: An Observational Study
People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.
research Nonclassic Congenital Adrenal Hyperplasia and the Heterozygote Carrier
Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
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 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 Surgery And Laser
Various skin conditions like cutaneous lupus erythematosus, psoriasis, and basal cell carcinoma can be effectively treated with antihypertensive agents, NB-UVB phototherapy, and imiquimod cream respectively. Vaccines are effective against genital herpes and HPV-16 infection. Early intervention is crucial for conditions like diabetic foot ulcers and neonatal herpes. Certain dyes can cause hand dermatitis, and there's a link between smoking/drinking and psoriasis in men. No direct link was found between low iron levels and chronic hair loss in women.
research Phototherapy, Photomedicine, and Pigmentary Disorders
Stopping certain drugs can improve skin conditions, arsenicosis affects over half of a Bangladeshi village, males are more vulnerable, and certain treatments are effective for warts, acne, and psoriasis. Smoking and drinking are linked to psoriasis in men, a cream helps with a type of skin cancer, and low iron levels don't directly cause chronic hair loss in women.
research Role of Cholesterol Sulfate in Epidermal Structure and Function: Lessons from X-Linked Ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research Diagnosis and Management of Vascular Ehlers-Danlos Syndrome: Experience of the UK National Diagnostic Service, Sheffield
The UK's EDS National Diagnostic Service found that early diagnosis, lifestyle advice, and regular check-ups are crucial for managing vascular Ehlers-Danlos syndrome. A combination of losartan and bisoprolol can reduce vascular events, improving survival and quality of life.
research Sarcoidosis: Are There Differences in Your Skin of Color Patients?
Sarcoidosis is more common and severe in Black patients than in Caucasians, requiring early diagnosis and treatment.
research Polycystic Ovary Syndrome and NC-CAH: Distinct Characteristics and Common Findings. A Systematic Review
Polycystic Ovary Syndrome (PCOS) is common in women with conditions like anovulation, hirsutism, hair loss, and type 2 diabetes, and it can lead to health risks like heart disease, obesity, insulin resistance, and depression. Non-Classic Congenital Adrenal Hyperplasia (NC-CAH) is also discussed.
research Novel Splicing-Site Mutation in DCAF17 Gene Causing Woodhouse-Sakati Syndrome in a Large Consanguineous Family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Clinical Features and Presentation of Polycystic Ovary Syndrome
PCOS is a hormonal disorder causing symptoms like excess hair, acne, irregular periods, and fertility issues.
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 Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research A Current Diagnostic and Therapeutic Challenge: Tinea Capitis
Early recognition and treatment of tinea capitis are crucial to prevent severe scalp issues and prolonged therapy.
research The Fraser Complex Proteins Can Form Anchoring Cords Without AMACO at the Dermal-Epidermal Junction of Mouse Skin
Certain skin proteins can form anchoring structures without the protein AMACO.
research A Rare Manifestation of STING-Associated Vasculopathy with Onset in Infancy: A Case Report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research A New Heterozygous Frameshift Variant in Keratin 10 Resulting in Ichthyosis Hystrix in a Father and Daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Cutaneous and Oral Mucosal Lesions in Cri-du-chat Syndrome
Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
research Pseudoxanthoma Elasticum: Progress in Research Toward Treatment - Summary of the 2012 PXE International Research Meeting
Significant progress was made in understanding PXE, but effective treatments are still needed.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research Prevalence of Polycystic Ovary Syndrome Under NIH Criteria Among Tenth-Grade Chinese Schoolgirls in Guangzhou Area: A Cross-Sectional Epidemiological Survey
Polycystic Ovary Syndrome (PCOS) was found in 3.86% of tenth-grade girls in Guangzhou, China, with higher rates in overweight and obese girls, suggesting diagnosis should focus on hyperandrogenemia.