research Functional Analysis of VDR Gene Mutation R343H in a Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
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research High-Potency Topical Steroids: An Effective Therapy for Chronic Scalp Inflammation in Rapp-Hodgkin Ectodermal Dysplasia
Strong skin creams work well for long-term scalp inflammation in Rapp-Hodgkin Ectodermal Dysplasia.
research Oral Presentations: Findings from Dermatological Studies
The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
research A Prospective Study of the Prevalence of Nonclassical Congenital Adrenal Hyperplasia Among Women Presenting with Hyperandrogenic Symptoms and Signs
About 2.2% of women with symptoms of high male hormones have a mild form of congenital adrenal hyperplasia, and measuring a specific hormone level can accurately diagnose it.
research Misdiagnosis as Asphyxiating Thoracic Dystrophy and CMV-Associated Hemophagocytic Lymphohistiocytosis in Shwachman-Diamond Syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research Testicular Steroidogenesis: Production and Regulation of Testosterone and Dihydrotestosterone
Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
research Melanocytes and Vitiligo and Hair Graying
Melanocytes produce melanin; their defects cause vitiligo and hair graying, with treatments available for vitiligo.
research Biomedical Engineering Approaches for the Delivery of JAGGED1 as a Potential Tissue Regenerative Therapy
JAGGED1 could help regenerate tissues for bone loss and heart damage if delivered correctly.
research Obesity and the Skin
Obesity is linked to various skin problems and may increase the risk of skin cancer.
research TRP Channels in Skin Biology and Pathophysiology
TRP channels in the skin are important for sensation and health, and targeting them could help treat skin disorders.
research Genetic Basis of Skin Appendage Development
Hair, teeth, and mammary glands develop similarly at first but use different genes later.
research Flares of Systemic Lupus Erythematosus During Pregnancy and the Puerperium: Prevention, Diagnosis, and Management
Pregnancy can increase lupus activity, but careful planning and treatment can improve outcomes.
research Dermatoscopy of Hair Shaft Disorders
Dermatoscopy is a useful tool for diagnosing hair disorders and can help choose samples for more detailed analysis.
research A Position Effect on TRPS1 Is Associated with Ambras Syndrome in Humans and the Koala Phenotype in Mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Non-Polycystic Ovary Syndrome–Related Endocrine Disorders Associated with Hirsutism
Hirsutism can be caused by various conditions besides PCOS, and it's important to treat the underlying issue and manage symptoms with medication and cosmetic approaches.
research Familial and Sporadic Porphyria Cutanea Tarda
Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
research 1α,25-Dihydroxyvitamin D3 Modulates the Hair-Inductive Capacity of Dermal Papilla Cells: Therapeutic Potential for Hair Regeneration
Vitamin D3 can help improve hair growth by enhancing the function of specific skin cells and could be useful in hair regeneration treatments.
research Congenital Alopecia Areata
Some babies are born with alopecia areata, and a treatment with clobetasol propionate can regrow hair in half of the cases.
research Genetic Fate Mapping Using Site-Specific Recombinases
The document concludes that careful design of genetic fate mapping experiments is crucial for accurate cell lineage tracing in mice.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Ptosis in Childhood: Causes, Clinical Presentations, and Management
Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
research Hair and Nail Disorders of Childhood
The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.
research Infant Alopecia Universalis: Role of Topical PUVA (Psoralen Ultraviolet A) Radiation
Topical PUVA and tacrolimus ointment can effectively and safely treat infant alopecia universalis.
research Lymphatic Vessel: Origin, Heterogeneity, Biological Functions, and Therapeutic Targets
Lymphatic vessels are essential for health and can be targeted to treat various diseases.
research Premature Greying of Hair (Premature Canities): A Concern for Parent and Child
Genetics, stress, and health issues can cause early hair greying, which affects self-esteem, and there's no cure, only hair dye.
research ESGCT and FSGT Collaborative Congress Helsinki, Finland September 17–20, 2015 Abstracts
The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
research Skin
Skin problems are common in Lupus patients and can indicate the disease's severity, requiring specific treatments and lifestyle changes.
research Update on Hidradenitis Suppurativa (Part I): Epidemiology, Pathogenesis, Severity Assessment and Comorbidities
Hidradenitis suppurativa is a chronic skin condition more common in women, linked to genetics and lifestyle factors, and associated with various other health issues.
research Global Landscapes of Human Phenotypic Variation in Inherited Traits
Different human traits like skin color and hair type vary between populations due to genetic adaptations to the environment.