research Sjogren-Larsson Syndrome: Case Study of a 9-Year-Old Boy
A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
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30 / 387 results research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Sjogren-Larsson Syndrome: Case Report of a 21-Year-Old Woman
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research Incomplete Sjögren-Larsson Syndrome in Two Japanese Siblings
research A Syndrome of Congenital Ichthyosis, Mental Retardation, Myopathy, and Anemia in Dizygotic Twin Sisters
The twins' condition is unique and doesn't match any known syndromes.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Structure and Development of the Skin and Cutaneous Appendages
Understanding skin structure and development helps diagnose and treat skin disorders.
research Management of Congenital Ichthyoses: European Guidelines of Care, Part Two
European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
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 Skin, Genetic Defects, and Aging
Genetic defects and UV radiation cause skin damage and aging.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Index
The document is a detailed guide on skin conditions and treatments for dermatologists.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Genetics
Certain gene mutations can weaken the skin barrier and, when combined with environmental factors, lead to eczema and severe itching.
research A Multicenter Evaluation of 10% Sulfacetamide Sodium in a 10% Urea Vehicle Scalp Treatment Lotion and a 10% Urea Deep Cleansing Antibacterial Shampoo for the Treatment of Seborrheic Dermatitis of the Scalp
The lotion and shampoo effectively treated scalp seborrheic dermatitis.
research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Off-Label Uses of Topical Vitamin D in Dermatology: A Systematic Review
Topical vitamin D is useful for some skin conditions but not effective for others, and more research is needed.
research Transcriptomes Reveal MicroRNAs and MRNAs in Different Photoperiods Influencing Cashmere Growth in Goat
Different amounts of daylight affect cashmere growth in goats by changing the activity of certain genes and molecules.
research Vitamin D in Dermatology and Cosmetology
Vitamin D is crucial for skin health and managing skin diseases.
research New Developments in the Molecular Treatment of Ichthyosis: Review of the Literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
research British Association of Dermatologists Guidelines on the Efficacy and Use of Acitretin in Dermatology
Acitretin is effective for severe skin conditions but has significant side effects and requires careful monitoring.
research The Acyl-CoA Binding Protein Is Required For Normal Epidermal Barrier Function In Mice
ACBP is crucial for healthy skin in mice.
research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
research First Symposium of Ichthyosis Experts
Experts met to improve care for ichthyosis patients in Spain.
research Type 1 Diabetes Mellitus and Autoimmune Diseases: A Critical Review of the Association and the Application of Personalized Medicine
Type 1 diabetes often occurs with other autoimmune diseases, and personalized treatment based on genetics can improve outcomes.
research Androgen Therapy in Women: A Reappraisal: An Endocrine Society Clinical Practice Guideline
The guidelines advise against using testosterone and DHEA in women for most conditions due to safety and effectiveness concerns, but suggest considering testosterone for postmenopausal women with low sexual desire.
research Cutaneous and Mucosal Lichen Planus: A Comprehensive Review of Clinical Subtypes, Risk Factors, Diagnosis, and Prognosis
Lichen Planus is a less common condition affecting skin and mucous membranes, with various types and associated risk factors, challenging to diagnose, significantly impacts life quality, and may have a risk of cancerous changes in oral lesions.
research Inhibition of Steroid 5 Alpha-Reductase with Finasteride: Sleep-Related Erections, Potency, and Libido in Healthy Men
Finasteride doesn't affect erections much, but may decrease libido in men.
research Risk Factors for Prostate Cancer: An Umbrella Review of Prospective Observational Studies and Mendelian Randomization Analyses
Physical activity, height, and smoking affect prostate cancer risk.