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480-510 / 1000+ resultsresearch A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Familial 1q22 Microduplication Associated With Psychiatric Disorders, Intellectual Disability, and Late-Onset Autoimmune Inflammatory Response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Confluent and Reticulated Papillomatosis Associated with Polycystic Ovarian Syndrome
Hormonal imbalances in Polycystic Ovarian Syndrome (PCOS) might trigger a rare skin disorder called Confluent and Reticulated Papillomatosis (CRP), so dermatologists should consider checking for PCOS in CRP patients.
research Challenges Associated With the Identification of Germline Variants on Myeloid Malignancy Genomic Profiling—A Singaporean Experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research Frizzled Receptors in Development and Disease
Frizzled receptors are essential for various body development processes and maintaining certain body functions.
research Vitamin D And Skin Diseases: A Review
Vitamin D is important for skin health and can help treat psoriasis, atopic dermatitis, and vitiligo.
research Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution, And Tumor-Initiating Cells
Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
research Fibrodysplasia Ossificans Progressiva: A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
research Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer
TGM3 is important for skin and hair structure and may help diagnose cancer.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research A Comprehensive Review of Acne Vulgaris
Acne can't be cured but can be managed with treatments like benzoyl peroxide and diet changes; it's costly and can lead to scarring and mental health issues.
research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Off-Label Uses of Retinoids in Dermatology
Retinoids are effective for various skin conditions and hair loss but have serious side effects, so low doses are recommended.
research Off-Label Use of Botulinum Toxin in Dermatology: Current State of the Art
Botulinum toxin is effective for various skin conditions, but more research and awareness of side effects are needed.
research High-Throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research Trailing the Path to Preventive Oncology
Preventing cancer involves lifestyle changes, vaccinations, early screening, and understanding cancer's molecular basis.
research Infections, Infestations, and Neoplasms of the Scalp
The chapter explains common scalp conditions, including infections, infestations, and tumors.
research Association Between PITX2 Polymorphism And Androgenetic Alopecia In The Indian Population
Certain gene variations in PITX2 are linked to a higher risk of male pattern baldness in Indians.
research A Decade of Neglecting Sublingual Mass: A Case Report of Epidermoid Cyst
A man had a large, rare cyst in his mouth removed after 10 years, which fixed his swallowing and breathing problems.
research Endocrinology
The document concludes that inflammation markers can be used in diabetes, vitamin D3 affects immune pathways, hyperthyroidism changes hormone levels, androgen levels help diagnose Adrenocortical Carcinoma, erectile dysfunction is linked to diabetes, hypogonadism is common in HIV-infected males, and hormones can be biomarkers for various conditions.
research Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome
The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
research Perspectives on Dermatopathology
Dermatopathology has made significant progress but many skin diseases remain incurable, requiring ongoing research.
research Mutant Laboratory Mice With Abnormalities in Hair Follicle Morphogenesis, Cycling, and Structure: Annotated Tables
Mutant mice help researchers understand hair growth and related genetic factors.
research The Laboratory in the Multidisciplinary Diagnosis of Differences or Disorders of Sex Development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Advances in the Treatment of Autosomal Recessive Congenital Ichthyosis: A Look Towards the Repositioning of Drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
research Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
research Ichthyosiform Nevus in a 22-Year-Old Woman
A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
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 Novel Adenosine Triphosphate-Binding Cassette, Subfamily A, Member 12 Mutations Associated with Congenital Ichthyosiform Erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.