research Multiple paraneoplastic syndromes: Myasthenia gravis, vitiligo, alopecia areata, and oral lichen planus associated with thymoma
Removing the thymoma improved the man's autoimmune conditions.
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840-870 / 1000+ results research A Prepatellar Soft Tissue Mass in a 56-Year-Old Man
The man had a fungal infection in his knee, treated with surgery and antifungal medication.
research Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
research 176 Myeloid cell-specific deletion of mTOR suppresses psoriasis-like skin inflammation in C57BL/6 mice
Targeting mTOR in myeloid cells may help reduce psoriasis symptoms.
research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research Improvement of Satoyoshi syndrome with tacrolimus and corticosteroids
Tacrolimus and corticosteroids can improve symptoms of Satoyoshi syndrome.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Stigmata of Liver Disease in a Cirrhotic Patient
The patient showed signs of liver disease due to alcohol use but didn't need treatment for Dupuytren’s contracture.
research Hair miR ‐29a levels are decreased in patients with scleroderma
Scleroderma patients have lower hair miR-29a levels.
research Lipoatrophy and severe metabolic disturbance in mice with fat-specific deletion of PPARγ
Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research 548 Deletion of Myelin Protein Zero-like 3 increases sebaceous gland size and sebocyte proliferation but reduces skin adipose depots: Can MPZL3 inhibition promote excessive loss of lipids via sebum hypersecretion?
Deleting MPZL3 increases skin oil production and reduces body fat.
research Hidradenitis suppurativa and Mediterranean fever gene mutations
Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Biotinidase Deficiency and Seizures
Biotinidase deficiency can cause symptoms like sleepiness, hair loss, and seizures.
research Curly Hair Follicle is Sculpted by a Contracted Arrector Pili Muscle. A Hypothesis with Treatment Implications
Curly hair may be caused by a muscle contraction, and muscle relaxants might help treat it.
research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research A BIOCHEMICAL MARKER IN A DOMINANT MOUSE TRAIT
The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
research Muir-torre syndrome in two families in Leicestershire, United Kingdom
Recognizing minor skin lesions can help identify serious cancer syndromes.
research Localized Primary Cutaneous Nodular Amyloidosis in a Patient With Paraproteinemia
An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.
research Epithelial–mesenchymal transition in cutaneous fibrosis disease: from mechanisms to therapy
EMT plays a key role in skin fibrosis and offers new therapy targets.
research Catamenial-like seizure exacerbation in mice with targeted ablation of extrasynaptic δGABA-a receptors in the brain
Removing certain brain receptors in mice worsens seizure severity and response to treatment during hormone withdrawal.
research Difficult-to-Treat Idiopathic Generalized Epilepsy in a Young Woman
The young woman with epilepsy became seizure-free after finding the right combination of medications.
research Reticular Erythematous Mucinosis Syndrome
Reticular erythematous mucinosis syndrome can occur with minimal mucin deposition.
research 921 Generation of a new rodent model of scleroderma
Researchers created a new mouse model for studying scleroderma.
research Thymoma without Myasthenia Gravis Showing Size Fluctuation in Parallel to Alopecia Areata Activity: A Case Report
Removing the thymoma improved the patient's alopecia areata, suggesting a possible link between the two.
research Dermatophytosis caused by Trichophyton mentagrophytes in the Southern Chamois (Rupicapra pyrenaica) in the Eastern Pyrenees
Two southern chamois in the Eastern Pyrenees had skin infections caused by a fungus.
research Paraproteinemic keratopathy: recognizing the ocular significance
Paraproteinemic keratopathy can show eye symptoms before other signs of disease, needing careful treatment and long-term follow-up.
research N-terminal functional domain of Gasdermin A3 regulates mitochondrial homeostasis via mitochondrial targeting
Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
research The fretful child with swollen appendage: Mitten the Insidious
A child's toe was saved from a rare condition where hair tightly wrapped around it by performing surgery.