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.
Search
for
Sort by
Research
960-990 / 1000+ resultsresearch Two familial cases of Olmsted-like syndrome with a G573V mutation of theTRPV3gene
A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
research Index of Suspicion
Early diagnosis and treatment are crucial for complex medical conditions.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research Localization, Age- and Site-Dependent Expression, and Regulation of 11β-Hydroxysteroid Dehydrogenase Type 1 in Skin
Increased 11β-HSD1 activity in skin may contribute to aging and could be targeted to reduce aging effects.
research Analysis of hairless corepressor mutants to characterize molecular cooperation with the vitamin D receptor in promoting the mammalian hair cycle
Certain mutations in the hairless protein disrupt its ability to regulate the hair cycle.
research HHV-6A and HHV-6B in Drug-Induced Hypersensitivity Syndrome/Drug Reaction with Eosinophilia and Systemic Symptoms
The document concludes that reactivation of herpesviruses, especially HHV-6, is linked to severe symptoms and complications in drug-induced hypersensitivity syndrome.
research Endocrine abnormalities in ring chromosome 11: a case report and review of the literature
Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
research Strange cutaneous abnormalities and polyposis in an Asiatic man
A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.
research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research Management of pregnancy in a carrier of the Donohue mutation
Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
research INTERRELATION OF ESSENTIAL METALS AND TRACE ELEMENTS’ LEVELS IN HAIR AND SERUM WITH A CLINICAL PICTURE OF AUTISM SPECTRUM DISORDER
Children with autism have different levels of certain metals and elements in their hair and blood, affecting symptoms.
research Predictors of Vitamin D Insufficiency in Children and Adolescents With Alopecia Areata
Children with alopecia areata often have low vitamin D, especially if they have darker skin, it's not summer, or they're not White.
research Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
research P0689 High-dose IV iron safely and effectively treats IBD-associated anaemia regardless of inflammatory activity – real-life evidence from Germany
High-dose IV iron is safe and effective for treating anaemia in IBD patients.
research Case of Cronkhite Canada syndrome shows improvement with enteral supplements.
Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.
research Vitamin D Deficiency among Depressed Women
Most women with depression in the study had low vitamin D levels.
research Iron deficiency and daily physical activity in female military personnel
Iron deficiency is common in female military personnel but doesn't significantly impact daily physical activity.
research [The value of selenotherapy in patients with mucoviscidosis].
Selenium therapy improved health in cystic fibrosis patients with fewer side effects at a lower dose.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research Hair Manifestations of Systemic Disease
Hair changes can indicate systemic diseases or medication effects.
research Serum level of vitamin D in patients with alopecia areata
Alopecia areata patients have lower vitamin D levels than healthy individuals.
research Human placental mesenchymal stromal cell‐derived exosome‐enriched extracellular vesicles for chronic cutaneous graft‐versus‐host disease: A case report
Exosome-enriched vesicles from placental cells improved skin condition in a patient with chronic graft-versus-host disease.
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 Scorbut atypique associé à une anorexie mentale
A woman with anorexia improved significantly after being treated for scurvy with vitamin C, despite not showing typical scurvy symptoms.
research Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans
The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
research Immunogenetic and metabolic risk factors in male androgenetic alopecia: the role of HLA-DRB1 alleles and vitamin D3 deficiency
Certain genetic markers and low vitamin D3 levels are linked to male pattern baldness.