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.
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research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Are All Adverse Effects Undesirable? A Case of Chemotherapy-Induced Adverse Effect - An Exception!
Excessive eyelash growth from erlotinib may indicate positive tumor response and help treat madarosis.
research Twenty Nail Dystrophy with Alopecia Areata in an Atopic Child
A child with rough nails also had hair loss and allergies.
research The Utility of Elastic Verhoeff-Van Gieson Staining in Dermatopathology
EVG staining is a valuable, simple, and cost-effective method for diagnosing various skin conditions in dermatopathology.
research General Dermatology: Comprehensive Overview of Dermatological Conditions
The document explains various skin conditions and their treatments.
research Case 2-2022: An Adolescent Male in Cardiac Arrest 3 Days After Liver Transplantation for End-Stage Liver Disease
The patient recovered well and returned to college without any lasting issues.
research Study of Human Leukocyte Antigen in 13 Cases of Familial Frontal Fibrosing Alopecia: CYP21A2 Gene p.V281L Mutation from Congenital Adrenal Hyperplasia Linked to HLA Class I Haplotype HLA-A*33:01; B*14:02; C*08:02 as a Genetic Marker
A genetic marker linked to a type of hair loss was found in most patients studied.
research Eyelash Trichomegaly: Review of Congenital, Acquired, and Drug-Associated Etiologies for Elongation of the Eyelashes
The document concludes that eyelash trichomegaly, which is the abnormal growth of eyelashes, can be present from birth, caused by diseases, or result from certain medications.
research Severe Impact of Late Diagnosis of Congenital Adrenal Hyperplasia on Gender Identity, Sexual Orientation, and Function: Case Report and Review of the Literature
Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
research Diagnostic Criteria for Polycystic Ovarian Syndrome
To diagnose Polycystic Ovarian Syndrome, two out of three signs—irregular periods, high male hormone levels, or cysts on the ovaries—are needed.
research Temporal Triangular Alopecia and a Review of 52 Past Cases
Most cases of Temporal Triangular Alopecia are found in early childhood and may be related to genetic conditions.
research Giant Bilateral Myelolipomas in a Patient with Congenital Adrenal Hyperplasia
A patient with untreated congenital adrenal hyperplasia had large benign tumors in her adrenal glands removed, improving her symptoms.
research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.
research Familial Aggregation of Alopecia Areata
Alopecia areata, a common autoimmune hair loss condition, often runs in families.
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 Nonclassic Congenital Adrenal Hyperplasia: Pathophysiology, Genetics, and Management
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
research Prognosis and Management of Congenital Hair Shaft Disorders Without Fragility—Part II
Some congenital hair disorders improve with age and can be managed with treatments like minoxidil, retinoids, supplements, and gentle hair care, but there's no cure.
research CYP21A2 Genotypes Do Not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
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 Anterior, Frontal Congenital Triangular Alopecia: Redundancy in Therapy Without Improvement
Recognizing congenital triangular alopecia is crucial to avoid unnecessary treatments.
research Congenital Erythropoietic Porphyria: Five Years of Observation with Standard Treatment - A Case Report
Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
research Atypical Congenital Triangular Alopecia (Brauer Nevus): Case Report and Literature Review in Occipital and Mid-Frontal Localizations
The report concludes that atypical Brauer nevus is more common in males, present at birth, and often misdiagnosed due to its unusual scalp locations.
research Congenital Triangular Alopecia
Congenital triangular alopecia is a harmless, non-spreading hair loss condition often seen in young children.
research An Update on Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
research Congenital Adrenal Hyperplasia: Comprehensive Overview and Clinical Management
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
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 Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth, and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Identification of a Novel PNPLA1 Mutation in a Spanish Family with Autosomal Recessive Congenital Ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
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.