research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
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90-120 / 1000+ resultsresearch Acquired pili torti--a structural hair shaft defect in anorexia nervosa.
Anorexia nervosa may cause a hair defect called pili torti due to malnutrition and high vitamin A levels.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia
A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
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 The influence of valproic acid treatment on hair and serum zinc levels and serum biotinidase activity
Valproic acid treatment may cause temporary hair loss due to reduced zinc and biotinidase levels, which tend to normalize after 6 months.
research 222 Pharmacovigilance Analysis of Reports of Sexual Dysfunction Associated with Finasteride Use: Implications for the Post-Finasteride Syndrome
Finasteride is linked to sexual dysfunction, especially in younger users treating hair loss.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research Queratose folicular espinulosa decalvante: relato de caso
A rare genetic disease caused severe, worsening hair loss from early childhood with poor treatment results.
research Pathogenesis of pili annulati
Pili annulati is caused by a protein metabolism disorder affecting hair structure.
research A proposed etiopathology of persistent dysfunctions emerging from use and discontinuation of 5-alpha reductase inhibitors: sequelae of drug-mediated microvasculopathy
The document suggests that drugs for prostate issues might cause lasting sexual, mental, and physical health problems due to blood vessel damage in the penis.
research Pili Annulati
The patient's hair has unique structural differences with alternating bright and dark bands.
research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research The expression of inducible nitric oxide synthase (iNOS) in the testis and epididymis of rats with a dihydrotestosterone (DHT) deficiency
DHT deficiency increases iNOS expression in rat testis and epididymis.
research Updates on Trichodysplasia Spinulosa Disease
Trichodysplasia spinulosa is a rare skin condition linked to weakened immune systems, mostly in organ transplant patients.
research TRICHOSTASIS SPINULOSA OR PINSELHAAR
Trichostasis spinulosa is a rare skin condition with hair-filled plugs in hair follicles.
research Effects of minoxidil on hemodynamics in patients with congestive heart failure.
Minoxidil improves blood flow in heart failure patients.
research Vinblastine in the treatment of children and adolescents with refractory immune thrombocytopenia
Vinblastine can help treat childhood ITP but may cause reversible side effects.
research Editors' Picks
Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
research Trichostasis spinulosa: An overlooked entity
Trichostasis spinulosa is a common but often unnoticed skin condition involving bundled vellus hairs, especially in people with darker skin or UV exposure.
research P447: Late onset biotinidase deficiency misdiagnosed as neuromyelitis optica: A case report and review of diagnostic challenges
Biotinidase deficiency can mimic neuromyelitis optica and should be considered for accurate diagnosis and treatment.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research Preferential Crosstalk between Perifollicular Capillary Vessels and Dermal Papilla Cells during Hair Cycling Homeostasis
Enhancing blood vessel interactions with hair cells may help treat hair loss and skin aging.
research Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
research Cerebral Venous Sinus Thrombosis Associated with Dutasteride Use
Dutasteride for hair loss might increase the risk of a rare stroke type.
research 34006 Vitamin D deficiency in patients with lichen planopilaris/frontal fibrosing alopecia
Patients with lichen planopilaris/frontal fibrosing alopecia have a higher rate of vitamin D deficiency than the general US population.
research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
research Finasteride for recurrent priapism in children and adolescents: a report on 5 cases
Finasteride effectively and safely treats recurrent priapism in children and adolescents with sickle cell disease.
research Absence of Heart Failure in Severe Cardiac and Autonomic Amyloidosis: The Essential Role of Sympathetic Activation and Venous Tone in the Development of the Congestive Heart Failure Syndrome
Sympathetic activation and venous tone are crucial for heart failure symptoms.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.