research Lymphoproliferative Disorders: Hot Topics in Dermatology 2019
The document updated knowledge on skin disorders, focusing on unusual moles in older adults, the progression from moles to melanoma, and evolving hair loss treatments.
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research Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
research Polycystic Ovary Syndrome: Conditions, Genetics and Current Cure
PCOS has no cure, but treatments can manage symptoms and improve health.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Hair loss in children.
Children's hair loss can be caused by many factors, including autoimmune diseases, emotional stress, genetics, and infections, with treatment and prognosis varying.
research Table 2_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.
research Trichotillomania Across Circuits: Neurobiology, Sensory Processing, and Genetic Insights
Trichotillomania treatment is improving with behavior therapy and new drug approaches, but challenges like stigma and underdiagnosis remain.
research Exploiting molecular genetic diagnoses of polycystic ovary syndrome to achieve better patient outcome
Improved genetic diagnosis of PCOS can lead to better patient outcomes.
research Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications
Adrenal disorders can cause lasting brain and behavior issues in children.
research Disorders of pigmentation in infants and children
Vitiligo causes white skin patches, often starts before age 20, and is linked to other health issues.
research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria
The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH
A genetic mutation in the LIPH gene causes hair loss and growth defects.
research Is the Loose Anagen Hair Syndrome a Keratin Disorder?
Loose anagen hair syndrome may be caused by keratin gene mutations.
research Eating Disorders: Progress and Challenges
Despite progress, better treatments and understanding are needed for the high rates of long-term issues and deaths linked to eating disorders.
research Genetics of Inherited Ichthyoses and Related Diseases
New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
research Light microscopy of the hair: A simple tool to "untangle" hair disorders
Light microscopy is useful for diagnosing different hair disorders.
research Immunodeficiency Disorders
People with primary immunodeficiencies often have frequent, severe, or unusual infections and may need special tests and management strategies.
research Hair shaft disorders in children – An update
Diagnosing and managing children's hair shaft disorders is challenging but essential.
research Dermatologic manifestations of endocrine disorders
Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.
research Disorders of hair
The document concludes that hair analysis is not good for assessing nutrition but can detect long-term heavy metal exposure.
research Intractable Diffuse Alopecia Caused by Multifactorial Side-Effects in Treatment of Acute Lymphocytic Leukemia: Connection to Iatrogenic Failure of Estrogen Secretion
The patient's long-term hair loss was caused by leukemia treatments and low estrogen levels, worsened by her genetic tendency for hair loss.
research Disorders of ovulation
Ovulation disorders are a major cause of infertility and menstrual problems in women.
research Lifestyle changes and Nutrition in Polycystic Ovarian Disorder: A Holistic Review
Lifestyle changes like a healthy diet, exercise, and proper sleep can help manage PCOD.
research THE RELATION BETWEEN VITILIGO AND OTHER AUTOIMMUNE DISORDERS
Vitiligo is often found with other autoimmune diseases, which is important to know to help patients.
research Eating disorders
Eating disorders are serious, often undiagnosed conditions requiring early treatment, with anorexia being the most deadly and binge-eating the most treatable.
research Ocular aspects in biotinidase deficiency Clinical and genetic original studies
Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.