research Hair abnormalities and neurological disease
Hair changes could indicate neurological diseases and help monitor treatment.
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research The Association of Electrolytes, Trace Elements, and Vitamin C with Kidney Function in Iraqi Celiac Patients
Celiac patients may have kidney function risks due to increased urea and creatinine and decreased magnesium, zinc, and vitamin C.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Hyperuricemia is associated with androgenetic alopecia in men: A cross‐sectional case‐control study
High uric acid levels link to male pattern baldness, especially in young men.
research An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research Zinc-responsive Acral Hyperkeratosis as a Sequele of Acrodermatitis Enteropathica
Zinc treatment improved skin and hair issues in a boy with a zinc-related condition.
research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
research Inhibition of 3‐methylcrotonyl‐CoA carboxylase explains the increased excretion of 3‐hydroxyisovaleric acid in valproate‐treated patients
Valproic acid treatment increases a specific acid in urine by blocking an enzyme, possibly causing skin rash and hair loss.
research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
research Rabson-Mendenhall syndrome: two case reports and a brief review of the literature
The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
research Netherton's Syndrome.
A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
research Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin
A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research Love is in the hair: arginine methylation of human hair proteins as novel cardiovascular biomarkers
Human hair protein modifications could potentially indicate heart disease risk.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research ‘Relaxers’ damage hair: Evidence from amino acid analysis
Hair relaxers are linked to reduced cystine levels and potential hair damage.
research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
research Alopecia Areata with Renal Dysgenesis
Alopecia areata may be linked to kidney issues, but more research is needed.
research An Unusual Presentation of Massive Asymptomatic Urinary Retention in a 63-Year-Old Male With Iron Deficiency Anaemia
Unexplained anemia in older men may be linked to urological issues like urinary retention.
research Hair straightening and acute kidney injury: a case series from a medical toxicology service
Hair-straightening products with glyoxylic acid may cause kidney damage.
research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research Netherton Syndrome
A 17-year-old with Netherton syndrome has dry, itchy skin, brittle hair, and high IgE levels, treated with antihistamines and emollients.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure
Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
research A Case of Trichothiodystrophy with a Low Sulfur Level in the Hair Shafts
research Comparative Studies on Polyamine Levels in Plasma and Urine of Androgenic Alopecia Patients Treated with Finasteride for a Period of Three Years
Finasteride treatment for three years changes certain polyamine levels in the blood but not in urine.