research An Unusual Presentation of X-Linked Adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
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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 Hair Shaft Abnormalities: Clues to Diagnosis and Treatment
Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.
research Structural and Molecular Hair Abnormalities in Trichothiodystrophy
TTD hair brittleness is caused by multiple structural abnormalities.
research The Role of AUTS2 in Neurodevelopment and Human Evolution
The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
research Complications of Liver Transplantation: A Perioperative Perspective
Liver transplant can lead to neurological, pulmonary, cardiovascular, and renal complications, with older patients facing higher risks.
research Biotin-Responsive Alopecia and Developmental Regression
Biotin treatment can significantly improve hair loss and motor functions in certain metabolic disorders.
research Case Presentation: Catastrophic Decrease in Measured Oxygen Saturation Associated with Venovenous Bypass During Liver Transplantation
Oxygen levels can drop during liver transplant if bypass pressures are too high, but other reasons should be checked first.
research Becker Nevus Syndrome
The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
research A Japanese Case of Ichthyosis Follicularis with Atrichia and Photophobia Syndrome with an MBTPS2 Mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research A Novel Homozygous Variant in the DSP Gene Underlies the First Case of Non-Syndromic Form of Alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Treatment of Faun-Tail Naevus with Intense Pulsed Light
IPL treatment can significantly reduce hair in faun tail but may need local anesthesia.
research A Mouse Model for the Basal Transcription and DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Extra-Intestinal Manifestation of Celiac Disease in Children
Early diagnosis and a strict gluten-free diet are crucial for children with celiac disease to improve symptoms.
research Life-Threatening Macrophage Activation Syndrome as the Initial Presentation of Systemic Lupus Erythematosus: A Case Report and Review of the Literature
Macrophage activation syndrome can be a deadly first sign of systemic lupus erythematosus.
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 Systemic Subchronic Toxicity and Comparison of Four Selenium Nutritional Supplements by 90-Day Oral Exposure in Sprague-Dawley Rats
High doses of some selenium supplements caused liver and reproductive harm in rats.
research Delayed Puberty: Diagnosis and Management of Congenital Idiopathic Hypogonadotropic Hypogonadism
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
research Dermatologic Diseases and Problems of Women Throughout the Life Cycle
Women experience various skin issues at different life stages, requiring careful treatment and awareness.
research FOXN1 Deficiency: From the Discovery to Novel Therapeutic Approaches
New treatments for immune disorders caused by FOXN1 deficiency are promising.
research Rhombencephalosynapsis Presenting Antenatally with Ventriculomegaly/Hydrocephalus in a Likely Case of Gomez–López-Hernández Syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research HHV-6A and HHV-6B in Drug-Induced Hypersensitivity Syndrome/Drug Reaction with Eosinophilia and Systemic Symptoms
The document concludes that reactivation of herpesviruses, especially HHV-6, is linked to severe symptoms and complications in drug-induced hypersensitivity syndrome.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Epigenetic Control of Adult Stem Cell Function
Epigenetic changes control how adult stem cells work and can lead to diseases like cancer if they go wrong.
research Madarosis: A Marker of Many Maladies
Losing eyelashes or eyebrows can be a sign of many different health problems and needs a careful approach to treat effectively.
research FOXN1 Deficient Nude Severe Combined Immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Diagnostic Approach to Low-Renin Hypertension
Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
research Effects of Oral Contraceptives on the Quality of Life of Women with Polycystic Ovary Syndrome: A Crossover Randomized Controlled Trial
Birth control pills containing cyproterone acetate improve the quality of life more for women with polycystic ovary syndrome after 6 months of use.
research Late Presentation of Myotonic Dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
research PNKP Is Required for Maintaining the Integrity of Progenitor Cell Populations in Adult Mice
PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.