research Ichthyosis Follicularis Alopecia and Photophobia Syndrome: Transient Improvement with Oral Isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
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research A Comparison of Vertical Versus Transverse Sections for the Histopathologic Diagnosis of Alopecias
Transverse sections are better for non-scarring hair loss, vertical sections are better for lichen planopilaris, and either method works for other scarring hair loss types.
research Ocular Manifestation in Progeria: A Case Report
A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
research Anabolic-Androgenic Steroids and Cardiovascular Risk
Using steroids can increase the risk of heart problems.
research Delayed Diagnosis of Kearns-Sayre Syndrome in a 38-Year-Old Male Patient: A Case Report
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research A Case of Familial Male-Limited Precocious Puberty with a Novel Mutation
A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
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 A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Triad of Keratosis Pilaris, Ulerythema Ophryogenes, and 18p Monosomy: Zouboulis Syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
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 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 DNA Phenotyping: Current Application in Forensic Science
DNA phenotyping helps predict physical traits from DNA with varying accuracy and requires careful ethical and legal handling.
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 Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Trichoscopy in Hair Shaft Disorders
Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.
research Diagnosis and Management of Infertility Due to Anovulation
The conclusion is that lifestyle changes and weight loss are first-line treatments for infertility due to anovulation, with various medications and assisted reproductive technologies as additional options.
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 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.
research Management of Teenagers with Polycystic Ovarian Syndrome
The document concludes that personalized treatment, including lifestyle changes and medication, is essential for managing PCOS in teenagers, while also addressing their psychological well-being.
research Hair Loss in Children: Diagnosis and Treatment
The document concludes that accurate diagnosis of hair loss in children is crucial due to limited treatment options and the condition's psychological impact.
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 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 Differential Diagnosis of Hair Loss in Children
The document concludes that early diagnosis and treatment are crucial for children with hair loss to prevent permanent damage, although not all conditions can be effectively treated.
research Causes and Management of Pica Disorder Among Central Iraqi Peoples
Pica disorder in central Iraq is mainly found in females and is linked to low iron levels; treatment with iron improves most patients.
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 A Rare Association of Mauriac Syndrome and Van Wyk-Grumbach Syndrome in a Young Saudi Girl with Poorly Controlled Type 1 Diabetes and Hypothyroidism: A Case Report and Brief Literature Review
A young Saudi girl with uncontrolled type 1 diabetes and hypothyroidism had two rare conditions, Mauriac syndrome and Van Wyk–Grumbach syndrome.
research Structural Abnormalities of the Hair Shaft
The document concludes that understanding hair structure is key to diagnosing hair abnormalities and recommends gentle hair care for management.
research Perspectives on Dermatopathology
Dermatopathology has made significant progress but many skin diseases remain incurable, requiring ongoing research.