research A Novel Homozygous Variant in the DSP Gene Underlies the First Case of Non-Syndromic Form of Alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
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research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Clinical and Laboratory Characteristics of Individuals Aged 17 Years or Younger With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Case Report: Heterozygous Mutation in HTRA1 Causing Typical Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research The Interplay of Oxidative Stress and Immune Dysfunction in Hashimoto’s Thyroiditis and Polycystic Ovary Syndrome: A Comprehensive Review
Oxidative stress and immune dysfunction are linked to both Hashimoto's thyroiditis and polycystic ovary syndrome, with diet and specific treatments important for managing these conditions.
research Large-Scale Multicenter Prospective Registry Study of Ripretinib in Advanced GIST: A Real-World Study from China
Ripretinib is effective and safe for treating advanced GIST in Chinese patients, particularly for non-gastric GISTs.
research Decay of Skin-Specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, leading to their unique scales and skin features.
research Convergent Decay of Skin-Specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, showing complex skin evolution.
research Ichthyosis Follicularis With Alopecia And Photophobia Syndrome With Coexisting Palmoplantar Keratoderma Treated With Acitretin
A girl with a rare skin condition improved after one month of treatment with acitretin.
research Is Dutasteride a Therapeutic Alternative for Amyotrophic Lateral Sclerosis?
Dutasteride, usually used for prostate issues and hair loss, could potentially treat Amyotrophic Lateral Sclerosis (ALS) due to its neuroprotective, antioxidant, and anti-inflammatory properties, but more testing is needed.
research A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research Metabolic Regulation of Stem Cells in Aging
Eating less can improve stem cell function and increase lifespan.
research Hidradenitis Suppurativa, Acne Inversa, Dissecting Terminal Hair Folliculitis
Hidradenitis Suppurativa is a chronic skin condition best treated early with surgery for better outcomes and less recurrence.
research Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research Lentiginous Melanoma: A Clinically Malignant Entity That Histopathologically Seems Benign. Case Study Harboring BRAF V600R Mutation
A clinically suspected melanoma appeared benign under the microscope but was confirmed by specific tests and a rare mutation.
research Nonclassical Congenital Adrenal Hyperplasia and Pregnancy
Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
research Haircuts Do Not Cause Cancer: Refuting Misconceptions About Growth Factors and Cancer Risk
Haircuts and medical growth factors do not cause cancer.
research A Recently Characterized, Underdiagnosed Cause of Female Androgenetic Alopecia and Polycystic Ovarian Syndrome: Non-Classical 21 Hydroxylase Deficiency
Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
research Nevoid Basal Carcinoma Syndrome (Gorlin Syndrome) and Pronounced Androgenic Alopecia in a Woman with a Novel Mutation p.Leu1159fsx32 in the PTCH Gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
research The Role of Histone Demethylases in Disease
Histone demethylases play a key role in the development of many diseases and may be targets for treatment.
research Scientific Highlights from the Society for Investigative Dermatology 2010 Annual Meeting
The meeting highlighted major advances in skin research, including new findings on skin microbes, genetic links to skin diseases, and improved treatments for various conditions.
research Unexpected Autocrine Role of Vascular Endothelial Growth Factor in Squamous Cell Carcinoma
VEGF helps squamous cell carcinoma grow in ways beyond just blood vessel formation.
research Models for Skin Cancer
Malignant melanoma is the deadliest skin cancer, while BCC is the most common but rarely spreads, and SCC is more aggressive than BCC.
research Clinical Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment
Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
research Cardiac Outflow Tract Septation Defects in a DiGeorge Syndrome Model Respond to Minoxidil Treatment
Minoxidil treatment improves heart defects in a DiGeorge syndrome model.
research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Attention to Innate Circadian Rhythm and the Impact of Its Disruption on Diabetes
Disrupting natural body clocks increases the risk of developing type 2 diabetes.
research Successful Topical Minoxidil Treatment for Hair Density and Length in Trichorhinophalangeal Syndrome Type 1
Minoxidil improved hair growth in a child with a rare genetic disorder.
research Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: A Comprehensive Review
The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.