research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
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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 Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Hereditary Chorea Associated With and Aggravated by Systemic Lupus Erythematosus
A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
research Regional Dermatology
The document explains hair and nail biology, common hair loss conditions and treatments, oral and genital skin diseases, and the risks and treatments associated with squamous cell carcinoma.
research Androgen Biosynthesis and Gene Defects
Gene mutations can cause problems in male genital development.
research Disorders of hair in children
The document concludes that accurate diagnosis and understanding the type of hair disorder are crucial for treating hair loss in children.
research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research Evaluation of DNA Variants Associated with Androgenetic Alopecia and Their Potential to Predict Male Pattern Baldness
DNA variants can predict male pattern baldness, with higher risk scores increasing baldness likelihood.
research The Pharmacology of Regenerative Medicine
Regenerative pharmacology, which combines drugs with regenerative medicine, shows promise for repairing damaged body parts and needs more interdisciplinary research.
research Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications
Adrenal disorders can cause lasting brain and behavior issues in children.
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 Hair Loss in Children
Most hair loss in children is caused by a few common conditions, and it's important to diagnose these properly and support the child's mental health.
research The Basic Science of Hair Biology
Hair disorders are caused by a complex mix of biology, genetics, hormones, and environmental factors, affecting hair growth and leading to conditions like alopecia.
research Cicatricial Alopecia Research Foundation meeting, May 2016: Progress towards the diagnosis, treatment and cure of primary cicatricial alopecias
The meeting focused on understanding, diagnosing, and finding treatments for irreversible hair loss diseases.
research New Pharmaceutical Concepts for Sebaceous Gland Diseases: Implementing Today’s Pre-Clinical Data into Tomorrow’s Daily Clinical Practice
New treatments for skin conditions related to the sebaceous gland are being developed based on current research.
research “Cold” X5 Hairlaser™ used to treat male androgenic alopecia and hair growth: an uncontrolled pilot study
The X5 Hairlaser might help treat male hair loss, but more research is needed.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Testicular Steroidogenesis
Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
research Werewolf, there wolf: variants in Hairless associated with hypotrichia and roaning in the lykoi cat breed
The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.
research Hair Loss in Children
The most common cause of hair loss in children is tinea capitis, followed by alopecia areata and telogen effluvium.
research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Cutaneous signals of immune system disease
Skin issues can indicate immune system problems.
research Hypotrichosis and Alopecia
Accurate diagnosis and tailored treatments are crucial for managing hair loss in humans and animals.
research Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis
A mutation in the KRT75 gene causes frizzle feathers in chickens.
research Androgenetic Alopecia: Identification of Four Genetic Risk Loci and Evidence for the Contribution of WNT Signaling to Its Etiology
Four genetic risk spots found for hair loss, with WNT signaling involved and a link to curly hair.
research Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.