research Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
Search
for
Sort by
Research
900-930 / 1000+ results
research Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report
A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
research Hepatitis C ‐related mixed type vitiligo in a patient with I vemark syndrome
A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
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 Linear immunoglobulin A/immunoglobulin G bullous dermatosis associated with Vogt-Koyanagi-Harada disease
A man had two rare autoimmune diseases that might be connected.
research DSG4 Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case
Genetic testing can diagnose hair loss linked to DSG4 gene variants.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Anatomy and Physiology of the Skin
The skin's layers protect, sense, and regulate the body's internal balance, but can be prone to cancer.
research Tactile innervation densities across the whole body
Young adults have about 230,000 tactile nerve fibers, decreasing 5-8% per decade with age.
research The effect of St. John’s wort on the pharmacokinetics, metabolism and biliary excretion of finasteride and its metabolites in healthy men
St. John's wort increases finasteride metabolism, reducing its effectiveness; use caution when combining them.
research Three isostructural solvates of finasteride and their solid-state characterization
Three new finasteride solvates found, change forms under different drying conditions.
research Hair sampling for cortisol analysis with mother-toddler dyads living in low-income homes
Collecting hair for cortisol analysis is possible in low-income mother-toddler pairs.
research Effect of cosmetic hair treatment and natural hair colour on hair testosterone concentrations
Cosmetic hair treatments can increase hair testosterone levels, while natural hair color does not affect it.
research The semiotics of breast cancer: Signs, symptoms, and sales
The paper concludes that breast cancer treatment involves complex interactions between medical symptoms, patient experiences, and commercial influences, requiring a holistic approach.
research The impact of COVID-19 pandemic and lockdown on chronic stress assessed by hair cortisol analysis via LC-MS/MS
Chronic stress increased after lockdown, especially in young adults and females.
research 臨床研究における毛髪コルチゾールの有用性と限界
Hair cortisol can measure chronic stress but has inconsistent results.
research Influence of donor sources and culture media on the histo-morphological quality of human artificial skin models
EpiLife® media and younger donor age improve artificial skin model quality.
research The skin findings of pregnant women and our treatment choices. A Turkish experience: a 5-year survey.
Turkish pregnant women commonly experienced skin issues like itching and acne, and doctors mainly used topical treatments due to safety concerns during pregnancy.
research Efficacy and safety of SGLT2 inhibitor on insulin resistance and hyperglycemia in Werner syndrome—A case report
Dapagliflozin improved blood sugar control in a man with Werner syndrome without side effects.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research Choroidal Melanoma and Lid Fibrofoliculomas in Birt-Hogg-Dubé Syndrome
A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.