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neuropathy skin biopsy

Hilary Jericho, Naire Sansotta, Stefano Guandalini
OBJECTIVE: To evaluate the effectiveness of the GFD on extra-intestinal symptoms in pediatric and adult celiac populations at the University of Chicago (UofC). METHODS: We conducted a retrospective chart review of the UofC Celiac Center clinic charts from January 2002 to October 2014. Demographics, serologic testing, intestinal biopsies, and extra-intestinal symptoms at presentation, 12, 24, and greater than 24 months were recorded. Extra-intestinal symptoms included: abnormal liver enzymes, arthralgia/arthritis, dermatitis herpetiformis (DH), alopecia, fatigue, headache, anemia, stomatitis, myalgias, psychiatric disorders, rashes, seizures, neuropathy, short stature, delayed puberty, osteoporosis and infertility...
October 13, 2016: Journal of Pediatric Gastroenterology and Nutrition
D Adams, G Beaudonnet, C Adam, C Lacroix, M Théaudin, C Cauquil, C Labeyrie
Transthyretin familial amyloid polyneuropathy (FAP) is a rare disease with autosomal transmission due to point mutation of the transthyretin (TTR) gene. It is the most disabling hereditary neuropathy affecting sensory, motor and autonomic nerves, and is irreversible and fatal within 7 to 12 years of onset in the absence of therapy. Diagnosis is usually delayed for 1-5 years because the onset is usually insidious, and a positive family history is lacking in 50% of late-onset cases. Penetrance is variable, and depends of the age of the carrier and age of onset in family members...
October 2016: Revue Neurologique
Janneke G J Hoeijmakers, Catharina G Faber, Carien J Miedema, Ingemar S J Merkies, Johan S H Vles
Small fiber neuropathy (SFN) is a debilitating condition that often leads to pain and autonomic dysfunction. In the last few decades, SFN has been gaining more attention, particularly in adults. However, literature about SFN in children remains limited. The present article reports the cases of 2 adolescent girls diagnosed with SFN. The first patient (14 years of age) complained about painful itch and tingling in her legs, as well as dysautonomia symptoms for years. She also reported a red/purple-type discoloration of her legs aggravated by warmth and standing, compatible with erythromelalgia...
September 22, 2016: Pediatrics
Peter Novak
PURPOSE: Electrochemical skin conductance (ESC) using reverse iontophoresis and chronoamperometry has been used to evaluate abnormal function of small fibers. How ESC correlates with loss of small fibers in skin is unclear. METHODS: This was a prospective, blinded study. The primary outcome measure was the correlation between ESC at the feet and results of skin biopsies including epidermal nerve fiber density (ENFD) and sweat gland nerve fiber density (SGNFD) at the distal leg...
2016: Frontiers in Aging Neuroscience
Waqar Waheed, James Boyd, Farrah Khan, Sharon L Mount, Neil M Borden, Rup Tandan
Patients with Purkinje cell cytoplasmic autoantibody type 2 (PCA-2) and collapsin response-mediator protein-5 (CRMP-5) autoantibody can present with multifocal elements of encephalomyeloneuropathy. Except for an anecdotal report, case descriptions of paraneoplastic small fibre neuropathy are lacking. We report paraneoplastic small fibre neuropathy followed by chorea associated with small cell lung cancer. A man aged 57 years with a 35 pack-year smoking history presented with painless subacute paresthesia and weight fluctuation...
August 29, 2016: BMJ Case Reports
Jafar Kafaie, Minsoo Kim, Erik Krause
OBJECTIVE: To identify clinical and quantitative relationship between vaccinations and small fiber neuropathy (SFN). SFN refers to damaged unmyelinated or thinly myelinated sensory and/or autonomic fibers. Diagnosis is primarily based on clinical presentation. Intraepidermal nerve fiber density can provide diagnostic confirmation with a sensitivity of 88% and a specificity of 91%. However, the possible association between vaccination and small fiber polyneuropathy is not well defined...
September 2016: Journal of Clinical Neuromuscular Disease
Kunihiko Araki, Jun Sone, Yusuke Fujioka, Michihito Masuda, Reiko Ohdake, Yasuhiro Tanaka, Tomohiko Nakamura, Hirohisa Watanabe, Gen Sobue
Neuronal intranuclear inclusion disease (NIID) is an uncommon progressive neurodegenerative disorder. Adult-onset NIID can result in prominent dementia. We herein describe the case of a 74-year-old man who presented with dementia, cerebellar ataxia, neuropathy, and autonomic dysfunction. Diffusion-weighted imaging showed hyperintensity of the corticomedullary junction. Fluid-attenuated inversion recovery images showed frontal-dominant white matter hyperintensity. NIID was diagnosed from the presence of intranuclear inclusions in a skin biopsy sample...
2016: Internal Medicine
Konstanze Hörtnagel, Inge Krägeloh-Mann, Antje Bornemann, Miriam Döcker, Saskia Biskup, Heidi Mayrhofer, Florian Battke, Gabriele du Bois, Klaus Harzer
Vesicular protein sorting-associated proteins (VPS, including VPS11) are indispensable in the endocytic network, in particular the endosome-lysosome biogenesis. Exome sequencing revealed the homozygous variant p.Leu387_ Gly395del in the VPS11 gene in two siblings. On immunoblotting, the mutant VPS11 protein showed a distinctly reduced immunostaining intensity. The children presented with primary and severe developmental delay associated with myoclonic seizures, spastic tetraplegia, trunk and neck hypotonia, blindness, hearing loss, and microcephaly...
November 2016: Journal of Inherited Metabolic Disease
Kévin Bouiller, Sylvain Audia, Hervé Devilliers, Evelyne Collet, Marie Hélène Aubriot, Vanessa Leguy-Seguin, Sabine Berthier, Philippe Bonniaud, Pascal Chavanet, Jean-François Besancenot, Pierre Vabres, Laurent Martin, Maxime Samson, Bernard Bonnotte
In this study, outcomes of patients with leukocytoclastic vasculitis (LCV) were analyzed focusing on clinical, histopathology and laboratory findings, relapses, and survival.Data from patients with cutaneous vasculitis diagnosed between January 1, 2000, and December 31, 2010, at Dijon University Hospital (France) were retrospectively reviewed. LCV was defined as perivascular neutrophilic infiltrate, endothelial cell nuclear swelling, extravasation of red blood cells, and/or fibrin deposition in vessels. Patients were classified according to the 2012 Chapel Hill Consensus Conference...
July 2016: Medicine (Baltimore)
Patricia M Kluding, J Robinson Singleton, Mamatha Pasnoor, Mazen M Dimachkie, Richard J Barohn, A Gordon Smith, Robin L Marcus
BACKGROUND: Half of all patients with diabetes develop diabetic peripheral neuropathy (DPN), a complication leading to reduced mobility and quality of life. While there are no proven pharmacologic approaches to reduce DPN risk or slow its progression, evidence suggests physical activity may improve symptoms and enhance peripheral nerve regeneration. OBJECTIVE: To determine the impact of an intense lifestyle intervention on neuropathy progression and quality of life in individuals with DPN...
July 14, 2016: Physical Therapy
Neeraj Kumar, Hardeep Singh Malhotra, Ravindra Kumar Garg, Rakesh Lalla, Kiran Preet Malhotra, Amita Jain, Imran Rizvi
OBJECTIVE: The diagnosis of leprous neuropathy is mostly empirical and electrophysiological studies may not truly represent the clinical findings. This study comprehensively evaluates the neuroelectrophysiology and looks at clinico-electrophysiological dissociation. METHODS: Conventional electrophysiological recording included evaluation of median, ulnar, radial, tibial, and common peroneal nerve; an extended protocol included great auricular, phrenic, and facial nerves, along with sympathetic skin response and blink reflex...
August 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
Thomas Krøigård, Pall Karlsson, Nanna Brix Finnerup, Søren Hein Sindrup, Troels Staehelin Jensen
Nerve conduction studies are normal in small fibre neuropathy and special methods such as skin biopsies or quantitative sensory testing are required for diagnosis. In skin biopsies, nerve fibres are stained immunohistochemically and loss of distal nerve endings can be quantified directly. Assessment of thermal detection thresholds is used to evaluate the function of the sensory thermal pathways, but cannot discriminate between central and peripheral lesions. Small fibre neuropathy is often associated with potentially treatable diseases, and treatment of neuropathic pain may be required...
June 20, 2016: Ugeskrift for Laeger
Nurcan Üçeyler, Silvia Braunsdorf, Ekkehard Kunze, Nadja Riediger, Sarah Scheytt, Šarka Divisova, Can Ebru Bekircan-Kurt, Klaus Viktor Toyka, Claudia Sommer
INTRODUCTION: To analyze the diagnostic usefulness of skin punch biopsies with emphasis on visualization and quantification of T-cells and macrophages in patients with polyneuropathies. METHODS: We quantified inflammatory cells in skin samples (lower leg, upper thigh) of 187 patients and compared data with counts in their sural nerve biopsies and with skin biopsies from 32 healthy volunteers. RESULTS: Vessel-bound T-cells and macrophages were increased in proximal and distal skin samples of neuropathy patients compared to controls (P<0...
July 7, 2016: Muscle & Nerve
Vincent M Monnier, Saul Genuth, David R Sell
To date more than 20 glycation products were identified, of which ~15 in the insoluble human skin collagen fraction. The goal of this review is to streamline 30 years of research and ask a set of important questions: in Type 1 diabetes which glycation products correlate best with 1) past mean glycemia 2) reversibility with improved glycemic control, 2) cross-sectional severity of retinopathy, nephropathy and neuropathy and 3) the future long-term risk of progression of micro- and subclinical macrovascular disease...
August 2016: Glycoconjugate Journal
Quratul-Ain Altaf Altaf, Asad Ali, Milan K Piya, Neil T Raymond, Abd A Tahrani
BACKGROUND: Obstructive sleep apnea (OSA) is associated with increased nitrosative stress, endothelial dysfunction, and peripheral neuropathy in patients with type 2 diabetes. We hypothesized that OSA is associated with Poly ADP ribose polymerase (PARP) activation, lower intra-epidermal nerve fiber density (IENFD), and diabetic foot ulceration (DFU). METHODS: A cross-sectional study of adults with type 2 diabetes recruited from a secondary care hospital in the UK...
September 2016: Journal of Diabetes and its Complications
Wiebke Schrempf, Istvan Katona, Imis Dogan, Verena V Felbert, Miriam Wienecke, Julia Heller, Andrea Maier, Andreas Hermann, Katharina Linse, Moritz D Brandt, Heinz Reichmann, Jörg B Schulz, Johannes Schiefer, Wolfgang H Oertel, Alexander Storch, Joachim Weis, Kathrin Reetz
BACKGROUND: Idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) has been increasingly acknowledged to be an initial specific manifestation of alpha-synucleinopathies such as Parkinson's disease (PD), multiple system atrophy (MSA) and dementia with Lewy bodies (DLB). Recent findings suggest that cutaneous abnormalities like small fiber neuropathy and alpha-synuclein deposition might reflect brain pathology and might function as early biomarkers in PD. This is the first study to elucidate whether iRBD patients already suffer from distinctive cutaneous features...
August 2016: Parkinsonism & related Disorders
M P Pereira, S Mühl, S Ständer
BACKGROUND: Small fiber neuropathy arises from injury of small C and Aδ fibers and leads to pruritus as well as positive (pain, burning, tingling or stinging sensation) and negative neurological (numbness) symptoms. OBJECTIVES: To give an overview on small fiber neuropathy as a cause for chronic pruritus, the diagnostic approach to this condition, and therapeutic options. MATERIALS AND METHODS: A literature search using the terms "small fiber neuropathy", "pruritus", "itch", and "pain" was performed...
August 2016: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
Daniele Cazzato, Marco Castori, Raffaella Lombardi, Francesca Caravello, Eleonora Dalla Bella, Antonio Petrucci, Paola Grammatico, Chiara Dordoni, Marina Colombi, Giuseppe Lauria
OBJECTIVE: To investigate the involvement of small nerve fibers in Ehlers-Danlos syndrome (EDS). METHODS: Patients diagnosed with EDS underwent clinical, neurophysiologic, and skin biopsy assessment. We recorded sensory symptoms and signs and evaluated presence and severity of neuropathic pain according to the Douleur Neuropathique 4 (DN4) and ID Pain questionnaires and the Numeric Rating Scale (NRS). Sensory action potential amplitude and conduction velocity of sural nerve was recorded...
July 12, 2016: Neurology
V Donadio, R Liguori, A Incensi, G Chiaro, A Bartoletti-Stella, S Capellari, P Cortelli
Skin biopsy and microneurography are autonomic tests directly evaluating adrenergic and cholinergic sympathetic fibers to identify selective deficiency of a specific peripheral sympathetic subdivision. We describe a patient with tomacular neuropathy due to a deletion of the PMP22 gene who complained of chronic orthostatic hypotension due to a dopamine-β-hydroxylase deficiency confirmed by genetic analysis demonstrating two novel mutations in the DβH gene. To further characterize autonomic dysfunctions the proband underwent skin biopsy and microneurography...
May 2016: Autonomic Neuroscience: Basic & Clinical
Lisa M Mangus, Jamie L Dorsey, Rachel L Weinberg, Gigi J Ebenezer, Peter Hauer, Victoria A Laast, Joseph L Mankowski
Quantitative assessment of epidermal nerve fibers (ENFs) has become a widely used clinical tool for the diagnosis of small fiber neuropathies such as diabetic neuropathy and human immunodeficiency virus-associated sensory neuropathy (HIV-SN). To model and investigate the pathogenesis of HIV-SN using simian immunodeficiency virus (SIV)-infected Asian macaques, we adapted the skin biopsy and immunostaining techniques currently employed in human patients and then developed two unbiased image analysis techniques for quantifying ENF in macaque footpad skin...
August 2016: Toxicologic Pathology
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