research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
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240-270 / 1000+ resultsresearch Overnight loss of pigmented hair in autoimmune autonomic neuropathy treated with IVIg
IVIg treatment improved symptoms but caused permanent dark hair loss.
research De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
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 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 No mucosal involvement in a patient with paraneoplastic pemphigus associated with thymoma and myasthenia gravis
The patient had paraneoplastic pemphigus without mucosal involvement.
research Complex Regional Pain Syndrome I (Reflex Sympathetic Dystrophy)
CRPS type I is a complex pain condition with no proven cure, requiring personalized treatment.
research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
A potential genetic link between Werner syndrome and kidney disease was suggested.
research Lysophosphatidic acid and signaling in sensory neurons
Lysophosphatidic acid affects sensory neurons and may cause neuropathic pain and itch.
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 Absence of Heart Failure in Severe Cardiac and Autonomic Amyloidosis: The Essential Role of Sympathetic Activation and Venous Tone in the Development of the Congestive Heart Failure Syndrome
Sympathetic activation and venous tone are crucial for heart failure symptoms.
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 Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: A cross-sectional study
People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
research CLINICAL NUTRITION PROGRAM IMPROVES SENSORY LOSS IN A 60 YEAR OLD TRUCK DRIVER WITH ANTI-MAG NEUROPATHY
A clinical nutrition program improved sensory and motor function in a 60-year-old with anti-MAG neuropathy.
research Skin disorders in Parkinson’s disease: potential biomarkers and risk factors
Certain skin conditions may indicate or increase the risk of Parkinson's disease.
research LB1601 Dermatomyositis-related panniculitis of the neck
A woman with dermatomyositis improved after treatment for neck panniculitis, suggesting similar treatment for related conditions.
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 A Case of Pityriasis Rubra Pilaris Associated with Myasthenia Gravis
Pityriasis rubra pilaris can occur with myasthenia gravis.
research Combined drug triads for synergic neuroprotection in retinal degeneration
Using three different drugs together may better treat eye diseases like glaucoma and macular degeneration.
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 SP0227 Case 1 Presentation: Arthritis, Lupus and More. Rhupus or Polyautoimmunity?
Managing multiple autoimmune diseases in one patient is very challenging.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Neuroimmunomodulation in chronic wounds: an opinion
Improving nerve and immune interactions may help heal chronic wounds.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
research Peripheral patterns of calcitonin‐gene‐related peptide general somatic sensory innervation: Cutaneous and deep terminations
CGRP-IR axons may help maintain and renew tissues.
research Newly emerging type B insulin resistance (TBIR) during treatment with eculizumab for AQP4-IgG-positive neuromyelitis optica spectrum disorder (NMOSD): fatal outcome
A patient with a nerve disorder died from infection complications after developing insulin resistance from a treatment.
research Distribution of P2X3‐immunoreactive fibers in hairy and glabrous skin of the rat
P2X3-IR fibers are widespread in rat skin and likely help detect pain.
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 Dilated tonic pupils with tabes dorsalis in neurosyphilis as first manifestation of HIV/AIDS: a video report
Dilated pupils can be an early sign of HIV/AIDS.
research Alopecia Areata Developing in Non-Insulin Dependent Diabetes Mellitus Type-2, an Autoimmune Disease
A woman with type 2 diabetes developed alopecia areata, suggesting a link between the two autoimmune conditions.