research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
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900-930 / 1000+ resultsresearch Homeostasis and Cancer Symptom in Elemental Concentration Profiles of Hair Observed by Fluorescent X-ray Analysis with Synchrotron Radiation
Hair analysis can help screen for serious diseases like cancer and osteoporosis.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
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 Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Growth retardation and hair loss in transgenic mice overexpressing human H-ferritin gene
Overexpressing the human H-ferritin gene in mice causes mild growth delay and temporary hair loss.
research Human essential fatty acid deficiency: treatment by topical application of linoleic acid
Applying linoleic acid to the skin can reverse essential fatty acid deficiency symptoms.
research Cross‐Sectional Analysis of Subclinical Findings Using High‐Frequency Ultrasound in Frontal Fibrosing Alopecia
High-frequency ultrasound effectively evaluates and diagnoses frontal fibrosing alopecia.
research Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A*33:01 ; B*14:02; C*08:02 as a genetic marker
A genetic marker linked to a type of hair loss was found in most patients studied.
research A University Center for the Performing Arts
Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
research 4 Vitamin D resistance
Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
research Vitamin D‐dependent rickets type I and type II
VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research 085 Coordinate expressions of cyclin-dependent kinase inhibitors and high sulfur protein in human hair follicles
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 Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
research Female pattern hair loss among Saudi women and hematological changes associated with it – case controlled study
Female pattern hair loss in Saudi women is linked to low iron and vitamin D levels.
research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
A vitamin D receptor mutation causes rickets and affects immune responses.
research Iron Deficiency in Immune-Mediated Inflammatory Skin Diseases: A Missing Link Between Systemic Inflammation, Immunometabolism, and Disease Burden
Iron deficiency worsens inflammatory skin diseases by disrupting iron balance and increasing inflammation.
research Hypertrichosis lanuginosa acquisita associated with autoimmune hepatitis
HLA can be linked to autoimmune hepatitis.
research A 14-Year-Old Boy with Lower Extremity Swelling and Petechial Rash
The boy's symptoms improved with vitamin C treatment, highlighting the need to consider scurvy in kids with unusual diets.
research Heparan Sulfate Regulates Hair Follicle and Sebaceous Gland Morphogenesis and Homeostasis
Heparan sulfate is important for hair growth, preventing new hair formation in mature skin, and controlling oil gland development.
research Dermatoscopy case of the month: Trichodysplasia spinulosa
A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
research Case of Cronkhite Canada syndrome shows improvement with enteral supplements.
Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.