research A case report and brief literature review of Klippel-Trénaunay syndrome
The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.
Search
for
Sort by
Research
570-600 / 1000+ results 
research TR3 is preferentially expressed by bulge epithelial stem cells in human hair follicles
TR3 is mainly found in hair follicle stem cells and may be involved in hair loss.
research 880 Triptolide (TRP), a diterpenoid, shows a strong efficacy and a safe profile in the topical treatment of actinic keratosis lesions in a UV-B-induced mouse model
Triptolide effectively and safely reduces actinic keratosis lesions in mice.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Netherton Syndrome – Responding to Oral Retinoids
Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
research Delayed hair cycle in mnd2 mutant mice lacking HtrA2 serine protease activity
HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
research The IVIG treatment response in autoimmune polyendocrine syndromes type 2 with anti-GAD65 antibody-associated stiff person syndrome: a case report and literature review
IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
research Acquired trichomegaly with topiramate
A woman's eyelashes grew thicker and longer after taking topiramate, but returned to normal when she stopped the medication.
research Temporal Triangular Alopecia—Clinical and Dermoscopic Features of a Rare Entity
Temporal triangular alopecia is a harmless, non-progressive hair loss condition.
research Fatal Rapunzel Syndrome
A child died from eating hair, causing severe stomach blockages and infection.
research Papillon-Lefévre Syndrome: A Rare Case Report and a Brief Review of Literature
Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
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 Safety of Whole-Body Abrogation of the TRF1 Shelterin Protein in Wild-Type and Cancer-Prone Mouse Models
Deleting the Trf1 protein in mice is safe and may help prevent cancer without major side effects.
research Multi-ancestry tandem repeat association study of hair colour using exome-wide sequencing
Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
research Characterizing Disease Features and Other Medical Diagnoses in Patients With Pityriasis Rubra Pilaris
PRP patients show varied symptoms and need more research to understand related conditions.
research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
research Morphological and functional analysis on M3R mediated sweating in TSC1 k/o mouse
Sox13 is a marker for early hair follicle development but not essential for skin and hair growth.
research Childhood‐onset systemic lupus erythematosus with trisomy X and the increased risk for bone complications: a case report
A girl with lupus and trisomy X has a higher risk of bone problems like avascular necrosis and osteoporosis.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
research Association between TLR1 polymorphisms and alopecia areata
A specific gene variant (rs4833095) is linked to a higher risk of alopecia areata in Koreans.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research 586 Increase in CD8+ effector memory cells re-expressing CD45RA (TEMRA) reflects disease activity and enables early prediction of therapeutic outcome in rapidly progressive alopecia areata
Increased TEMRA cells can predict treatment outcomes in rapidly progressive alopecia areata.
research A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin
A specific gene mutation causes different hair defects in Indian monilethrix families.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
research Role of Trichoscopy in diagnosing Genotrichosis—A Report of Two Cases
Trichoscopy is crucial for diagnosing rare genetic hair disorders.
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 Monilethrix: the use of tricoscopy in clinical diagnosis
Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
research TON1 recruiting motif 21 positively regulates the flavonoid metabolic pathway at the translational level in Arabidopsis thaliana
TRM21 helps control flavonoid production and root hair growth in Arabidopsis thaliana.
research Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.