research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
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research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
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 Clinical Case Notes. Lipoid proteinosis: a rare disorder with pathognomonic lid lesions
A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
research Platelet‐rich plasma as a new and successful treatment for lichen planopilaris: A controlled blinded randomized clinical trial
Platelet-rich plasma (PRP) is an effective treatment for lichen planopilaris.
research Cutaneous polyarteritis nodosa presenting with digital gangrene and breast ulcer
A young woman with severe symptoms of CPAN improved with intensive treatment but needed a leg amputation.
research A Neutralizing Prolactin Receptor Antibody Whose In Vivo Application Mimics the Phenotype of Female Prolactin Receptor-Deficient Mice
The antibody 005-C04 blocks prolactin receptors, causing reversible infertility, impaired lactation, and hair regrowth in female mice.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
research PLA2R1 Overexpression Causes Podocyte Injury by Inhibiting the Cell Cycle: A Clinical Cross-Sectional Investigation and Cellular Study
PLA2R1 overexpression harms kidney cells by stopping their growth cycle.
research 808 Lichen planus single cell and spatial profiling of cutaneous lichen planus treated with baricitinib
research Case number 19th of perforating necrobiosis lipoidica worldwide
The document reports the 19th global case of a rare skin condition in a patient from Colombia.
research Overexpression of Lnk in the Ovaries Is Involved in Insulin Resistance in Women With Polycystic Ovary Syndrome
Higher Lnk protein levels in ovaries may lead to insulin resistance in women with PCOS.
research A prospective observational study on drug safety monitoring and Pharmacoeconomics in patients with locally advanced unresectable NSCLC in a tertiary care hospital
Carboplatin-paclitaxel is preferred for advanced lung cancer due to its balance of affordability and patient well-being.
research Expression of COX-2 and Bcl-2 in 50 patients of Lichen Planus
COX-2 and Bcl-2 proteins are involved in Lichen Planus.
research Effects of oral contraceptives on the quality of life of women with polycystic ovary syndrome: a crossover randomized controlled trial
Oral contraceptives with CPA improve overall quality of life for women with PCOS.
research Le point de vue du pathologiste concernant l’étude PCPT
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 Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Necrobiosis Lipoidica
Necrobiosis lipoidica may need new criteria for accurate diagnosis due to similarities with another condition.
research Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research 0977 Pathogenic hallmarks of primary lymphocyte-mediated scarring alopecia revealed by single nuclear and spatial multiomics
Scarring alopecia involves increased immune cells and specific gene changes near damaged hair follicles.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Chemical lumbar sympathectomy in the treatment of idiopathic livedo reticularis
Chemical lumbar sympathectomy is an effective and safe treatment for idiopathic livedo reticularis.
research Acute Disseminated Paracoccidioidomycosis with Molluscoid Lesions in a Young Woman
A young woman with a rare fungal infection showed significant improvement after treatment with antifungal medication.
research Effects of diphencyprone on expression of Bcl-2 protein in patients with Alopecia areata
Diphencyprone increases Bcl-2 protein in patients with hair regrowth from alopecia areata.
research Anti-DFS70 sebagai Penanda Kejadian Autoimun Nonsistemik (Primary Billiar Cholangitis) pada Systemic Lupus Erythematosus
Anti-DFS70 antibodies can help identify nonsystemic autoimmune conditions in SLE patients.
research Carbon‐dioxide laser‐associated PDT treatment of folliculitis decalvans
CO2 laser-associated PDT effectively treated therapy-resistant folliculitis decalvans.
research Development of Chinese Version of Polycystic Ovary Syndrome Health-Related Quality of Life Questionnaire (Chi-PCOSQ)
The Chinese version of the PCOS quality of life questionnaire is reliable and valid for Chinese-speaking women with PCOS.