research Clinical Case of Alopecia Totalis in Pediatric Practice
An 11-year-old child with total hair loss may have a genetic autoimmune disease, and the outlook for hair regrowth is not good.
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360-390 / 1000+ results research Ichthyosiform Erythroderma: A Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research An Infant with Worsening Rash
The rash on the infant indicated a serious underlying condition.
research Nonclassic Congenital Adrenal Hyperplasia: An Overview
Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
research First Case of V281+I172N/V281L CYP21A2 Genotype Associated with Congenital Adrenal Hyperplasia: A Case Report from Southern Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research A Rare Case of Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Genetics and Epigenetics of Polycystic Ovary Syndrome
Genes and epigenetic changes are important in the development of Polycystic Ovary Syndrome.
research Mutational Analysis of Mitochondrial DNA in Maternal Inheritance of Polycystic Ovarian Syndrome
Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
research A Rare Case of Cardiocutaneous Syndrome in a Young Child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research A Case of Glucocorticoid Resistance Syndrome
The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
research Painful Thickened Skin on the Soles of the Feet
The man has a genetic skin condition called pachyonychia congenita.
research Hypotrichosis in a Child with Olmsted Syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
research Regenerative Medicine of Epidermal Structures
New treatments for skin and hair repair show promise, but further improvements are needed.
research Ductal Breast Cancer in a Male Patient
An 86-year-old man with prostate cancer was diagnosed with a rare, low-grade breast cancer and underwent surgery but declined additional hormone therapy.
research Disorders Linked to Insufficient Androgen Action in Male Children
Male children's genital development issues can be caused by genetic mutations or environmental factors affecting hormone action.
research Visualizing Androgen Receptor Activity in Male and Female Mice
Androgen receptors are active in many tissues of both male and female mice, not just reproductive organs.
research The Activin Binding Proteins Follistatin and Follistatin-Related Protein Are Differentially Regulated In Vitro and During Cutaneous Wound Repair
FLRG and follistatin have different roles in wound healing.
research Ichthyosis Hystrix: A Rare Case in a Three-Day-Old Male Infant
A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
research Mechanical Forces Across Compartments Coordinate Cell Shape and Fate Transitions to Generate Tissue Architecture
Mechanical forces are crucial for shaping cells and forming tissues during development.
research Graft Versus Host Disease-Like: A New Paraneoplastic Syndrome
A woman with thymoma developed a rare chronic condition similar to graft versus host disease after surgery.
research Pulmonary Manifestations of Birt-Hogg-Dubé Syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research Hormonal Activity in Commonly Used Black Hair Care Products: Evaluating Hormone Disruption as a Plausible Contribution to Health Disparities
Common Black hair care products may affect hormone levels and potentially impact health, especially in reproductive and metabolic areas.
research Controlled Release of the Alpha-Tocopherol-Derived Metabolite Alpha-13'-Carboxychromanol from Bacterial Nanocellulose Wound Cover Improves Wound Healing
Wound covers with α-13'-COOH from vitamin E can improve and speed up wound healing.
research CRABP2 Promotes the Proliferation of Dermal Papilla Cells via the Wnt/Beta-Catenin Pathway
CRABP2 helps increase the growth of cells important for hair growth by activating a specific growth pathway.
research The 5 Alpha-Reductase Isozyme Family: A Review of Basic Biology and Their Role in Human Diseases
The document concludes that the 5 alpha-reductase enzymes are important in steroid metabolism and related to various human diseases, with inhibitors used to treat conditions like male pattern baldness and prostate issues.
research A Clinical Approach to Severe Insulin Resistance
Severe insulin resistance can be managed with medication, lifestyle changes, and treatment for related conditions.
research Self-Amplifying RNA Approach for Protein Replacement Therapy
Self-amplifying RNA could be a better option for protein replacement therapy with lower doses and lasting effects, but delivering it into cells is still challenging.
research Network-Based Approaches Reveal Potential Therapeutic Targets for Host-Directed Antileishmanial Therapy Driving Drug Repurposing
Researchers identified five new potential targets for leishmaniasis treatment, suggesting repurposing existing drugs could be effective.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research Successful Plasmapheresis and Immunoglobulin Treatment for Severe Lipid Storage Myopathy: Doing the Right Thing for the Wrong Reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.