research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
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research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Management of Congenital Ichthyoses: European Guidelines of Care, Part Two
European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
research Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I
Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
research Successful Induction of Oral Tolerance in Netherton Syndrome
A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Book Reviews
The document concludes that each reviewed medical book is useful for its specific area in pediatric care, especially the "Neonatal Formulary" for neonatal drug information.
research Netherton's Syndrome: A Syndrome of Elevated IgE and Characteristic Skin and Hair Findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research First Symposium of Ichthyosis Experts
Experts met to improve care for ichthyosis patients in Spain.
research Recent Advances in Congenital Ichthyoses
New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research National Scientific Medical Meeting 1996 Abstracts
The document summarizes medical findings on topics like heart rhythm treatment, sleep apnea therapy, and various health conditions and treatments.
research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
research Light Microscopic Hair Abnormalities in Children: Retrospective Review of 119 Cases in a 10-Year Period
Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.
research COVID-19 and Hypopituitarism
COVID-19 and hypopituitarism (reduced pituitary gland function) are linked, with the latter's related health issues potentially worsening COVID-19 outcomes, and COVID-19 possibly increasing risk for pituitary complications.
research Salt-Losing Tubulopathy and Chronic Dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Interpretation of Laboratory Data and General Physical Examination by Pharmacists
Pharmacists should interpret lab data and perform physical exams to improve patient care.
research Hyperpigmentation, Severe Alopecia, and Six Days of Instability in a Case of Severe Methotrexate Hypersensitivity Reaction
A woman had severe reactions to methotrexate, including skin issues and organ problems, but improved after 38 days in the hospital.
research A Case of Feline Paraneoplastic Alopecia Associated with a Pancreatic Adenocarcinoma
A cat's hair loss was linked to a severe pancreatic cancer.
research Adrenal Disorders and the Pediatric Brain: Pathophysiological Considerations and Clinical Implications
Adrenal disorders can cause lasting brain and behavior issues in children.
research Prospective Metabolic Evaluation of 150 Consecutive Patients Who Underwent Gastric Exclusion
Gastric exclusion surgery caused major weight loss and health improvements but led to some anemia and vitamin deficiencies.
research Congenital Adrenal Hyperplasia: A Comprehensive Review
The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
research Congenital Adrenal Hyperplasia: A Detailed Review of 21-Hydroxylase Deficiency
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research Nonclassic Congenital Adrenal Hyperplasia and the Heterozygote Carrier
Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
research Congenital Adrenal Hyperplasia: Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research The Genetics of Hair Shaft Disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
research Diuretics
Diuretics help the body get rid of excess salt and water by acting on the kidneys in different ways.
research Human Umbilical Cord Blood Mesenchymal Stem Cells Engineered to Overexpress Growth Factors Accelerate Outcomes in Hair Growth
Modified stem cells from umbilical cord blood can make hair grow faster.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.