research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
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research Atrichia congenita with papular lesions: A rare cause of pediatric alopecia
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Alopecia androgenética: aspectos etiopatogênicos, métodos diagnósticos e condutas terapêuticas
Common baldness is a hereditary condition that can be treated with medications or surgery to prevent progression and improve self-esteem.
research BH14 Multiple sclerosis and alopecia areata: drug-induced alopecia areata or coexisting autoimmune phenomena?
Some multiple sclerosis treatments may trigger hair loss conditions like alopecia areata.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research Síndrome de ovarios poliquísticos Polycystic ovary syndrome
PCOS is a common condition in women that causes various symptoms and health issues, treatable with lifestyle changes and medication.
research Mini Review on Polycystic Ovary Syndrome (PCOS)
PCOS is a common condition in women that can lead to infertility and other health issues, and it's diagnosed by specific criteria with various treatment options available.
research Alopecia androgénica femenina: nuevos factores fisiopatológicos y futuras tendencias para un abordaje clínico más integral
New factors in female hair loss include genetics, hormones, stress, and inflammation; future treatments should also focus on these areas and consider the patient's emotional well-being.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research The Skin at Different Ages
Skin changes throughout life, from development before birth to aging effects like wrinkles, influenced by both genetics and environment.
research New case of trichorinophalangeal 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 Counting Hairs: Is It Androgenetic Alopecia or Chronic Telogen Effluvium?
Hair count is important to distinguish between genetic hair thinning (Androgenetic Alopecia) and hair thinning caused by disrupted hair growth (Chronic Telogen Effluvium).
research Polycystic ovary syndrome
PCOS is a complex condition with major health impacts, needing more research for better diagnosis and treatment.
research Polycystic ovary syndrome (PCOS), an inflammatory, systemic, lifestyle endocrinopathy
PCOS is a complex condition in women that can lead to health issues, and lifestyle changes are the best management approach.
research Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research Alopecia Areata Update
Alopecia Areata is an autoimmune condition often starting before age 20, with varied treatment success and a need for personalized treatment plans.
research Recent advances in the molecular mechanisms determining tissue sensitivity to glucocorticoids: novel mutations, circadian rhythm and ligand-induced repression of the human glucocorticoid receptor
New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.
research Diet in dermatology: Revisited
Certain diets can affect skin conditions, but more research is needed to understand these relationships fully.
research Keratosis follicularis spinulosa decalvans in a family
KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
research The endocrinology of baldness
Hormones and genetics play key roles in male and female baldness, which can affect mental health and may be linked to other health issues.
research Twenty-Five and Up (25Up) Study: A New Wave of the Brisbane Longitudinal Twin Study
The 25Up study collected extensive data on mental disorders and related factors in Australian twins and siblings to investigate the genetics of psychiatric illnesses.
research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
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 Alopecia areata – Current understanding and management
Alopecia areata is a chronic condition causing hair loss, with new treatments targeting the immune system showing promise.
research Polycystic Ovary Syndrome: Features, Diagnostic Criteria and Treatments
PCOS is a long-term condition that needs more research for better understanding and treatment.
research Understanding Causes of Hair Loss in Women
The conclusion is that hair loss in women is caused by a mix of hormonal, environmental, and genetic factors, and treatments should target these various causes.
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
research Association of follicle-stimulating hormone receptor gene ser680 asn (rs6166) polymorphism with polycystic ovarian syndrome
A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.