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.
Search
for
Sort by
Research
780-810 / 1000+ results
research Multibacillary leprosy with positive serology misdiagnosed as systemic lupus erythematosus
A woman was wrongly diagnosed with lupus but actually had leprosy.
research Montagna Symposium 2016—The Skin: Our Sensory Organ for Itch, Pain, Touch, and Pleasure
The symposium highlighted the skin's role in sensing itch, pain, touch, and pleasure, and discussed new research and techniques for understanding and treating these sensations.
research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
research IMMUNOHISTOCHEMICAL DEMONSTRATION OF POLY(ADENOSINE DIPHOSPHATE‐RIBOSE) SYNTHESIS IN HUMAN SKIN
Poly(ADP-ribose) synthesis is linked to skin cell differentiation.
research Monilethrix: the use of tricoscopy in clinical diagnosis
Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
research Metabolic disease with autoimmune phenomena: 2 cases of SLE-like disease in young children diagnosed with lysinuric protein intolerance
Two children with lysinuric protein intolerance showed symptoms similar to lupus.
research Human ClinicalPhenotype Associated with FOXN1 Mutations
FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
research A Case of Neuropsychiatric Systemic Lupus Erythematosus With Hair Loss as the First Diagnostic Symptom
Hair loss was the first sign of a brain-related complication in a woman with lupus, and early treatment helped her hair grow back.
research A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
research A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research P53 Acute west nile virus infection in an SLE patient – diagnostic and therapeutic challenges
SLE patients need careful diagnosis to distinguish infections from disease flares for proper treatment.
research PSEUDOPELADE: AN INHERITED ALOPECIA
Pseudopelade is a rare inherited hair loss condition with a genetic cause.
research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research Macrophages Regulate Schwann Cell Maturation after Nerve Injury
Macrophages help heal nerves by aiding the maturation of Schwann cells and are important for nerve repair.
research Ischemic onycholysis of the hands
A woman's nail separation was likely caused by poor blood flow, and a treatment for similar conditions might help.
research Pathogenic CD8+ T cells target K71+ Henle’s layer by forming cytolytic immune synapses in Alopecia Areata
research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
research A case of primary cutaneous natural killer/T-cell lymphoma, nasal type, with indolent clinical course: monoclonal expansion of Epstein-Barr virus genome correlating with the terminal aggressive behaviour
The growth of the Epstein-Barr virus in the patient's cells was linked to the worsening of her lymphoma.
research SWEET SYNDROME: AN UNUSUAL PRESENTATION OF CHRONIC GRANULOMATOUS DISEASE IN A CHILD
A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
research The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects
Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
research Renal tubular dysfunction presenting as recurrent hypokalemic periodic quadriparesis in systemic lupus erythematosus
A woman with lupus had muscle weakness due to kidney issues and was successfully treated with medication.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research 301 The Spectrum of PLEC Sequence Variants and Related Plectinopathies Including Novel Association with Epidermolysis Bullosa Pruriginosa
Neutrophils quickly respond to skin injury.
research FOXN1 Is Critical for Onycholemmal Terminal Differentiation in Nude (Foxn1nu) Mice
The Foxn1 gene is essential for normal nail and hair development.
research Case report: NUDT15 polymorphism and severe azathioprine-induced myelosuppression in a young Chinese female with systematic lupus erythematosus: a case analysis and literature review
Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research The use of keratin biomaterials derived from human hair for the promotion of rapid regeneration of peripheral nerves
Keratin from human hair helps nerves heal faster.
research British Society for Dermatopathology: Summaries of Papers
Some skin conditions are associated with other serious diseases, and office microscopy may miss many fungal infections.
research Risk factors of peripheral occlusive arterial disease in patients with diabetic retinopathy due to type 2 diabetes
Long-term diabetes, smoking, and poor blood sugar control increase the risk of artery disease in diabetic retinopathy patients.