research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
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960-990 / 1000+ resultsresearch A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
research Ulerythema Ophryogenes
Treatment with vitamin A did not improve the child's skin condition.
research Risk Factors for Premature Hair Graying in Young Turkish Adults
Premature hair graying in young Turkish adults is more likely if they have stress, a family history of graying, drink alcohol, have chronic diseases, are older, or are taller.
research Iron Screening in Alopecia Areata Patients May Catch Hereditary Hemochromatosis Early
Screening for iron levels in patients with hair loss may help find a genetic iron overload condition early.
research ATP6AP1‐CDG: Follow‐up and female phenotype
ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
research Dystrophic-Anagen Effluvium Occurring During Pegylated Interferon-α-2a/Ribavirin Therapy
A woman's hair loss during Hepatitis C treatment with PEG-INF-a-2a and Ribavirin was reversible after stopping the medication.
research Man made disease: Clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study
Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
research From hair colour to diagnosis
Hair color is influenced by genetics and can indicate certain health conditions.
research [Monilethrix is a hereditary hair shaft disorder].
Monilethrix is a rare genetic hair disorder with no cure, but low-dose oral minoxidil may help.
research Chronic pulmonary histoplasmosis in Portugal: a case report
A patient in Portugal with chronic pulmonary histoplasmosis had a complex medical history and environmental exposures.
research Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research A case of widespread actinic granuloma with associated drug-induced lupus erythematosus
A man developed a rare skin condition and drug-induced lupus, highlighting the need for biopsy in diagnosing skin issues caused by sunlight.
research Clin-Alert
In 2002, various drugs caused serious side effects, including vitamin B12 deficiency, heart issues, blindness, hypersexuality, allergic reactions, blood clotting problems, pupil dilation, capillary leak syndrome, muscle breakdown, hepatitis, skin reactions, and lupus.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Supplementary Material for: A Silvery Hair Revolution: Case Report of Marie Antoinette syndrome in a child
Stress can cause sudden hair whitening in children, but it may reverse on its own.
research Supplementary Material for: A Silvery Hair Revolution: Case Report of Marie Antoinette syndrome in a child
Stress can cause sudden hair whitening in children, but it may reverse on its own.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
research Cutaneous Drug Reaction Case Reports
Various drugs caused different skin reactions, including allergic and inflammatory responses.
research Pili Annulati
The patient's hair has unique structural differences with alternating bright and dark bands.
research Peroxisome proliferator-activated receptor-γ signalling protects hair follicle stem cells from chemotherapy-induced apoptosis and epithelial–mesenchymal transition
Activating PPAR-γ signalling can protect hair follicle stem cells from damage caused by chemotherapy.
research Peroxisome Proliferator–Activated Receptor-γ−Mediated Signaling Regulates Mitochondrial Energy Metabolism in Human Hair Follicle Epithelium
PPAR-γ signaling improves mitochondrial function in hair follicles, potentially affecting hair growth and aging.
research SÍNDROME DRESS COM HEPATITE AGUDA GRAVE EM PACIENTE JOVEM
research Polycystic ovary syndrome (PCOS) is associated with NASH severity and advanced fibrosis
Women with PCOS have more severe liver disease.
research Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
research The redox - biochemistry of human hair pigmentation
Human hair color is influenced by complex biochemical processes involving enzymes and reactive oxygen species.
research Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
research Spiny Keratoderma
Spiny keratoderma is a rare skin condition with small spines on palms and soles, possibly linked to abnormal hair formation.