research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
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research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: A new disease association
NEMO syndrome and systemic lupus erythematosus are linked in a new disease association.
research Pyodermatitis vegetans associated with multiple myeloma
A skin condition called pyodermatitis vegetans was found in a patient with multiple myeloma for the first time.
research Dizziness and rash in an HIV positive man
The man likely has secondary syphilis affecting his nervous system.
research Alopecia Associated with Gabapentin in the Treatment of Neuropathic Pain
Gabapentin may cause hair loss in patients treated for neuropathic pain.
research El sistema español de autonomías territoriales: apuntes para un diagnóstico
Generalized trichoepitheliomas with alopecia may indicate myasthenia gravis.
research Skin Hyperpigmentation in Complex Regional Pain Syndrome (CRPS) (P3.315)
Skin pigmentation increases in CRPS-affected areas and improves with symptom relief.
research Plica neuropathica: Bird's nest under dermatoscope
Plica neuropathica is a tangled hair condition that may be caused by hair damage or psychiatric issues and is treated by cutting the hair and addressing mental health.
research Beta-trace protein in chronic inflammatory demyelinating polyradiculoneuropathy and Guillain-Barré syndrome – clinical utilization and a new insight into pathophysiological mechanisms
Beta-trace protein may help diagnose and predict treatment response in certain nerve disorders.
research Pain in Multiple Sclerosis: Understanding Pathophysiology, Diagnosis, and Management Through Clinical Vignettes
Effective pain management in multiple sclerosis requires individualized treatment strategies.
research Macrophages as central mediators of sympathetic neuro-immune interplay in autoimmunity
Restoring nerve-macrophage communication may help treat autoimmune diseases.
research Chemotherapy-induced peripheral neuropathy: ice, compression, both, or neither?
Cryotherapy and compression therapy might help prevent chemotherapy nerve damage, but more research is needed.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research Recurrent pruritic polymorphic lesions associated with weight loss
A man with itchy skin lesions and weight loss was diagnosed with a rare skin condition linked to a pancreatic tumor.
research Neuropsychiatric lupus in a Nigerian teenager
A Nigerian teenager was diagnosed with neuropsychiatric lupus, showing various severe symptoms and abnormal lab results.
research Poster 252 Patient Registry of Outcomes in Spasticity Care
The data suggests that dosing differences can help manage spasticity in patients with upper motor neuron dysfunction.
research No mucosal involvement in a patient with paraneoplastic pemphigus associated with thymoma and myasthenia gravis
The patient had paraneoplastic pemphigus without mucosal involvement.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Overexpression of neurotrophin 4 in skin enhances myelinated sensory endings but does not influence sensory neuron number
Increasing neurotrophin 4 in skin boosts nerve endings but not sensory neuron count.
research Data Sheet 1_The clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients.docx
Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.
research Generalized hair follicle hamartoma associated with alopecia and myasthenia gravis: report of a second case*
A possible link exists between hair follicle abnormalities, hair loss, and muscle weakness.
research Motoneuron-Specific PTEN Deletion in Mice Induces Neuronal Hypertrophy and Also Regeneration after Facial Nerve Injury
Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.
research Non-motor Comorbidity of Myasthenia Gravis: Myasthenia Gravis as a Systemic Immunological Disorder Involving Non-motor Systems
Myasthenia gravis can affect both motor and non-motor systems due to immune system issues.
research 3D-Hautmodelle von Patienten mit Small Fiber Neuropathie
A protocol was developed to create 3D skin models from adult diseased cells to study Small Fiber Neuropathy.
research Neuroimmunomodulation in chronic wounds: an opinion
Improving nerve and immune interactions may help heal chronic wounds.
research Parkinson's disease and skin
Parkinson's disease is linked to skin disorders and skin cells help in studying the disease.
research ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
research Porokeratotic eccrine ostial and dermal duct nevus: A noteworthy presentation
PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.