research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
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900-930 / 1000+ results research Diabetes mellitus and necrotizing fasciitis – a deadly combination; case report
Diabetes and necrotizing fasciitis together can be deadly.
research Do Dermatoses Trigger Neurodegenerative Diseases? A Retrospective Observational Study
Skin issues are common in people with neurodegenerative diseases.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Collective heterogeneity of mitochondrial potential in contact inhibition of proliferation
Mitochondrial activity varies in cells before they stop growing, affecting their growth potential.
research Alopecia Areata Associated with Myasthenia Gravis and Thymoma: A Case of Alopecia with Marked Improvement Following Thymectomy and High Level Prednisolone Administration
Thymectomy and high-dose prednisolone improved hair loss in a woman with alopecia areata.
research Spinal bicuculline produces hypersensitivity of dorsal horn neurons: effects of excitatory amino acid antagonists
Blocking GABA(A) receptors increases neuron sensitivity, showing GABA and glycine have different roles in pain.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Spiny Keratoderma
Spiny keratoderma is a rare skin condition with small spines on palms and soles, possibly linked to abnormal hair formation.
research Dermatological findings in common rheumatologic diseases in children
Children with different rheumatologic diseases have specific skin symptoms that can help with diagnosis.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Generalized trichorrhexis nodosa
The hair disorder was caused by abnormal protein formation, making hair easily damaged.
research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research Isolated episcleral plasmacytoma mimicking episcleritis in a patient with benign monoclonal gammopathy
An isolated episcleral plasmacytoma can mimic episcleritis, making diagnosis challenging.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research Two Dogs with Juvenile-Onset Skin Diseases with Involvement of Extremities
The analyses helped identify different skin diseases in the two dogs.
research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
research Lucio Phenomenon mimicking with Vasculo necrotic Erithema Nodosum Leprosum: A Case Report
A man with severe leprosy developed painless ulcers and numbness, treated successfully with multiple drugs and vitamins.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Multiple ulcerative plaques on the folds
Ulcerative sarcoidosis in body folds is rare and improved with prednisone and hydroxychloroquine.
research Fluoroscopy-induced morphea
A man developed a painful skin condition after multiple heart procedures involving radiation.
research Examples of Clinical Use of Botulinum Toxin: A Literature Review
Botulinum toxin is effectively used to treat various painful conditions and its therapeutic uses are growing.
research Nevus psiloliparus: Newly described histopathological features from transverse sections
Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
research 42863 The association of milia-like calcinosis cutis, alopecia totalis and hyperthyroidism linked with the novel mutation for RBM28
Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
research [Mycophenolate mofetil in induction and maintenance therapy for juvenile onset severe lupus nephritis].
Mycophenolate mofetil is effective for treating severe lupus nephritis in children.
research P14 Mycophenolate mofetil in patients with autoimmune hepatitis intolerant to azathioprine
Mycophenolate mofetil is a good alternative for autoimmune hepatitis patients who can't tolerate azathioprine.
research Antiretroviral nucleoside and nucleotide analogues and mitochondria
Some HIV treatments can harm mitochondria, potentially causing side effects like lactic acidosis and nerve damage.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research Skin shedding and tissue regeneration in African spiny mice (Acomys)
African spiny mice can regenerate skin, hair, and cartilage, but not muscle, and their unique abilities could be useful for regenerative medicine.
research Intradermal Injection of Bleomycin Shows Preliminary Evidence of Dermal Fibrosis in a Mouse Model
Bleomycin injections in mice cause skin thickening and hair loss.