research High-Throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
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300-330 / 1000+ resultsresearch Erythromelanosis Follicularis Faciei: First Case Report from Saudi Arabia
A 17-year-old in Saudi Arabia was diagnosed with a rare skin condition causing red-brown facial patches.
research Case Report: Acrodermatitis Enteropathica Resulting From a Novel SLC39A4 Gene Mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research An Infant with Worsening Rash
The rash on the infant indicated a serious underlying condition.
research Oral Presentations: Findings from Dermatological Studies
The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
research JAAD Grand Rounds Quiz on Dermatological Conditions
The document explains the diagnosis and characteristics of woolly hair nevus and alopecia neoplastica.
research Pattern Baldness: Its Genetics Revisited
Pattern baldness is likely caused by a dominant gene influenced by testosterone levels, making it more common in men.
research Atypical Progeroid Syndrome Due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Zinc Deficiency and Its Management in the Pediatric Population: A Literature Review and Proposed Etiologic Classification
Zinc deficiency in children can cause skin issues and can be serious if not diagnosed and treated properly.
research Nonclassic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Pathophysiology, Diagnosis, and Treatment
The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.
research Polycystic Ovary Syndrome and Its Differential Diagnosis
The document concludes that correct diagnosis and management of PCOS are important, and more research is needed on its risks and treatments.
research Pseudoacromegaly Induced by the Long-Term Use of Minoxidil
Long-term minoxidil use can cause pseudoacromegaly, but stopping it improves symptoms.
research Madarosis
Madarosis is the loss of eyelashes and eyebrows due to various health issues and requires thorough examination to diagnose and treat the underlying cause.
research FOXN1 Deficient Nude Severe Combined Immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Cystathionine Beta-Synthase-Deficient Mice Thrive on a Low-Methionine Diet
Mice with CBS deficiency are healthier on a low-methionine diet.
research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
research Evolving Approaches to Profiling the Microbiome in Skin Disease
New technologies help us better understand how skin microbes affect skin diseases.
research Endocrine Evaluation of Hirsutism
Hirsutism, excessive hair growth in women, is often caused by PCOS and can be managed with medication and personalized treatment plans.
research Evaluation of Hair Loss
The document concludes that a thorough history, physical exam, and specific tests are crucial for diagnosing and managing hair loss effectively.
research Risk Factors, Prevalence, and Diagnosis of Hutchinson-Gilford Syndrome with Special Reference to Case Reports
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research The Evaluation and Treatment of Androgen Excess
High androgen levels can cause excessive hair growth and may indicate serious health issues, including heart disease and fertility problems.
research Co-Occurrence of Monilethrix and Type 1 Diabetes Mellitus
The girl has both monilethrix and Type 1 diabetes, but no link between the two conditions is known.
research Hair Loss: A Harbinger of Morbidities to Come
Early hair loss in men and women may indicate a higher risk of heart disease and metabolic problems.
research An Adolescent Girl Presenting With Primary Amenorrhea: A Case Report of Complete Androgen Insensitivity Syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research Longitudinal Clinical Course in Patients With 5α-Reductase Type 2 Deficiency Treated With Testosterone and Dihydrotestosterone During Infancy and Puberty
Testosterone and dihydrotestosterone treatments can help with penile growth in males with 5α-reductase type 2 deficiency, with dihydrotestosterone being more effective in infancy.
research Lab Quality Management and Methodology
Men with early balding should be checked for metabolic syndrome, as there's a link between the two.
research Alopecia Areata: A Review of Disease Pathogenesis
Alopecia areata is likely an autoimmune disease with unclear triggers, involving various immune cells and molecules, and currently has no cure.
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 Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.