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.
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research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Keratin 17-Related Recessive Atypical Pachyonychia Congenita with Variable Hair and Tooth Anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Diagnostic Approach to Low-Renin Hypertension
Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research The Annual Changes of Clinical Manifestation of Androgenetic Alopecia Clinic in Korean Males and Females: An Outpatient-Based Study
AGA increased yearly, type I most common, and family history and seborrheic dermatitis often linked.
research Androgenic Alopecia: Case Study and Treatment Analysis
Androgenic Alopecia, a common hair loss condition, can be effectively treated with finasteride and other treatments.
research Critical Evaluation of the Concept of Genetics in Ayurveda with Special Reference to Eight Undesired Body Types (Ashta Nindit)
Ayurveda's descriptions of genetic disorders align with modern genetic understanding.
research Abstracts
The document summarizes skin and immune system disease findings, especially related to AIDS, from the 1980s.
research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research Genome-Wide Association Meta-Analysis of Individuals of European Ancestry Identifies New Loci Explaining a Substantial Fraction of Hair Color Variation and Heritability
New genetic locations explain much of hair color variation in Europeans.
research Dissection of Genetic Variation and Evidence for Pleiotropy in Male Pattern Baldness
Male pattern baldness is mostly inherited, involves many genes, and is linked to other traits like early puberty and strong bones.
research Monilethrix of the Scalp from Almost Normal Aspect to Total Alopecia: Variable Intrafamilial Expressiveness
Monilethrix causes different levels of hair loss in family members.
research Sebaceous Adenitis in Swedish Dogs: A Retrospective Study of 104 Cases
English springer spaniels are more prone to severe sebaceous adenitis than standard poodles.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research Adams–Oliver Syndrome: New Evidence in Variable Expressivity
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research Marie-Unna Hereditary Hypotrichosis: Case Report and Review of the Literature
Marie-Unna Hereditary Hypotrichosis is a rare genetic condition causing sparse hair growth, requiring specific recognition for proper care.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research Epidemiological and Investigative Study of Premature Graying of Hair in Higher Secondary and Pre-University School Children
Kids with early graying hair often have low levels of calcium, ferritin, and vitamin D3.
research Trichorhinophalangeal Syndrome with Low Expression of TRPS1 on Epidermal and Hair Follicle Epithelial Cells
Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
research Skin and Hair Abnormalities of Cantu Syndrome: A Congenital Hypertrichosis Due to a Genetic Alteration Mimicking the Pharmacological Effect of Minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
research Decades of Progressive Red and Yellow Nodules
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
research Fortnightly Review: Male Pattern Androgenetic Alopecia
Hair loss in men is common, treatable, but not curable.
research Hair Regrowth
Finasteride and minoxidil are effective for hair regrowth, while treatments for alopecia areata have varying success and continuous treatment is necessary.
research Androgenetic Alopecia in Men and Women
Androgenetic alopecia involves genetics, hormones, and can be treated with medications or surgery.
research Polycystic Ovary Syndrome and Its Impact on Health
PCOS affects women's health by increasing the risk of diabetes, heart disease, and reproductive issues.
research Keratosis Follicularis Spinulosa Decalvans
KFSD is a rare condition causing scarring hair loss, with no effective treatment known at the time of the report.