research An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
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research Steroidogenesis of the testis – new genes and pathways
New genes and pathways are important for testosterone production and male sexual development.
research Dental considerations in acrodermatitis enteropathica: A report of two cases
Acrodermatitis enteropathica can be linked to dental issues, so thorough dental exams are important.
research Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study
Gluconolactone products can significantly reduce skin scaling in golden retrievers with ARCI.
research Study of the Association of Some Blood and Urine Markers in Diagnosing in Pediatric Systemic Lupus Erythematous.
Blood and urine markers are important for diagnosing lupus in children.
research Hyperandrogenism-Insulin Resistance-Acanthosis Nigricans Syndrome
The document concludes that HAIR-AN syndrome should be considered when a patient shows severe hyperandrogenism and insulin resistance after excluding tumors.
research FRI-02 FROM GIRLS TO BOYS TO OLDER MEN, THE INTERESTING TALE OF THE GUEVEDOCES AND 5-ALPHA REDUCTASE INHIBITORS
The discovery of 5α-reductase deficiency in guevedoces led to the development of important urologic medications.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research Scraggly, a new hair loss mutation on mouse Chromosome 19
The scraggly mutation causes hair loss and skin defects in mice.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research Diagnosis by Hair Sample:A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
research Netherton's syndrome and ichthyosis linearis circumflexa.
Netherton's syndrome may have a familial link and doesn't always include atopy.
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 Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research The origin of citrulline-containing proteins in the hair follicle and the chemical nature of trichohyalin, an intracellular precursor
research Acne Keloidalis Nuchae
AKN might be a skin marker for metabolic syndrome.
research Metabolic pathway of Cis-UCA upon Ultraviolet B (UVB) exposure using ¹H Nuclear Magnetic Resonance (NMR) spectroscopy, Molecular Docking and cell viability of human keratinocytes (HaCaT) cell lines
Cis-UCA can form new compounds without enzymes, and sulphide donors reduce its UVB-induced toxicity in skin cells.
research Solubilization and Solid‐State Characterization of a Poorly Soluble 5‐α Reductase Inhibitor
GI197111X is best dissolved in Capmul MCM for trials.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research ASSESSMENT OF SERUM LEVELS OF ANTIGLIADIN ANTIBODIES (IGG AND IGA) IN PATIENTS WITH ALOPECIA AREATA AND THEIR RELATION TO SEVERITY OF THE DISEASE
Higher antigliadin antibody levels are linked to alopecia areata severity.
research The Molecular Basis of Androgen Insensitivity
Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
research Oxidative DNA Damage Accelerates Skin Inflammation in Pristane-Induced Lupus Model
Loss of OGG1 increases skin inflammation and auto-antibodies in lupus.
research Succinic Acid in Cosmetics and Aesthetic Dermatology: Biological Roles and Applications
Succinic acid helps improve skin conditions like acne and rosacea.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Acne induced by 'Sus' and 'Deca'
Using anabolic steroids 'Sus' and 'Deca' for bodybuilding caused severe acne in a man.
research Beyond the usual: a case of acrodermatitis enteropathica clinically resembling erythrokeratoderma variabilis
Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
research 41761 Alpha-gal Syndrome for the Dermatologist
Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.