research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
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870-900 / 1000+ resultsresearch [Effect of vitamin A deficiency on hair growth in rats].
research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Essential Fatty Acid Deficiency (EFAD) in a Patient with Vascular Ehlers Danlos Syndrome (EDS-4) (P12-053-19)
A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
research Multiple Myeloma–Associated Amyloidosis Presenting With Acrolocalized Acquired Cutis Laxa
A man with rare skin changes on his fingers was diagnosed with multiple myeloma-linked amyloidosis.
research CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa.
Scientists created a cell model to study and find treatments for a skin disease called RDEB.
research A Comparative Study of Vitamin D Levels in Persons with Hair Loss and Healthy Subjects
Low vitamin D levels are linked to hair loss in women.
research CRISPR/Cas9-mediated Generation ofCOL7A1-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
research P78 Acrodermatitis enteropathica in children: clinical cases
Zinc supplements and genetic analysis help treat acrodermatitis enteropathica in children.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research Segmental analysis of human hair reveals intra-annual variation in 25(OH)D3 concentrations in modern and archaeological individuals
Hair analysis can show changes in vitamin D levels over time.
research Alopecia associated with strontium ranelate use in a 62-year-old woman
A woman experienced hair loss after taking strontium ranelate for osteoporosis.
research Case Report: Exceptional Association of Leydig Cell Ovarian Tumor and Primary Hyperparathyroidism in a Postmenopausal Patient
A woman with a rare ovarian tumor and hyperparathyroidism improved after surgery, highlighting the need for reporting unusual cases to understand and manage rare diseases.
research Prevalence of Low Serum Vitamin D Levels in Patients Presenting With Androgenetic Alopecia: A Review
Low vitamin D levels are linked to hair loss, and vitamin D might help treat it.
research Data for the article "Increased calcidiol level in redhaired people: Could redheadedness be an adaptation to temperate climate?"
Redheaded people have higher levels of vitamin D precursor, suggesting their hair color may be an adaptation to low sunlight areas.
research Deucravacitinib, an oral, selective, allosteric tyrosine kinase 2 inhibitor, in patients with alopecia areata: efficacy and safety results of a phase II, multicenter, randomized, double-blinded, placebo-controlled trial
Deucravacitinib did not significantly improve hair regrowth in alopecia areata patients.
research Topical calcipotriol vs narrowband ultraviolet B in treatment of alopecia areata: a randomized-controlled trial
Both topical calcipotriol and narrowband UVB improved alopecia, but combining them didn't enhance the effect on hair loss severity, despite higher vitamin D3 levels.
research Nilotinib-induced generalized keratosis pilaris: Report of a rare case
Nilotinib can cause generalized keratosis pilaris.
research Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Lower Extremity Cramping and Palpitations in a 17-Year-Old Boy
The boy's symptoms improved with thyroid treatment, and he lost weight, but occasional palpitations persisted.
research The Case Files
The man's skin condition improved with sun protection and topical steroids, but UV exposure still caused flare-ups.
research Mixed Connective Tissue Disease (MCTD) in a Girl with Lower Extremities Edema: A Brief Report
MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.
research Questions and Answers
The document concludes that various skin conditions have specific treatments and that adequate calcium intake may prevent osteoporosis.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency
Dihydrotestosterone treatment can help penis growth in boys with 5α-reductase deficiency but doesn't fully normalize size after puberty.
research The development of portal hypertension and liver failure on the background of long-term intake of vitamin A in a young woman. Case report
A young woman got liver damage from taking too much vitamin A for two years.
research 563 CsA-induced hypertrichosis might be caused in part by inhibition of TGF-β2 expression in dermal papilla cells.
The medicine Cyclosporin A might cause excessive hair growth by reducing a protein that controls hair growth.