Read by QxMD icon Read

neuropathy skin biopsy

Mario A Saporta, Renata de Moraes Maciel
The human skin is richly innervated by nerve fibers of different calibers and functions, including thickly myelinated large fibers that act as afferents for mechanoreceptors in the dermal papillae. Skin biopsies offer minimally invasive access to these myelinated fibers, in which each internode represents an individual myelinating Schwann cell. Using this approach, human myelinated nerve fibers can be analyzed by several methods, including immunostaining, morphometric and ultrastructural analysis, and molecular biology techniques...
2018: Methods in Molecular Biology
Raquel Guimarães-Costa, Yoland Schoindre, Arnaud Metlaine, Jean-Pascal Lefaucheur, Jean-Philippe Camdessanché, Thierry Maisonobe, Jean-Marc Léger
A 59-year old woman presented with progressive paresthesias of all of her limbs for 4 years, associated with neuropathic pain, tingling in the tongue and allodynia, consistent with small-fiber neuropathy (SFN). Several systemic symptoms and signs were found on clinical examination and laboratory work-up. Neurological investigations including neurophysiologic test and skin biopsy supported the diagnosis of SFN. Chronic exposure to N-hexane was then disclosed and suspected to be the cause of the disease. Following the discontinuation of chronic N-hexane exposure, the patient had a progressive improvement of all signs and symptoms, reinforcing the correlation between exposure to N-hexane and development of SFN...
March 15, 2018: Journal of the Peripheral Nervous System: JPNS
Thomas Krøigård, Martin Wirenfeldt, Toke K Svendsen, Søren H Sindrup
Background: Cold-induced peripheral neuropathy has been described in individuals exposed to severe cold resulting in pain, hypersensitivity to cold, hyperhidrosis, numbness, and skin changes. Nerve conduction studies and thermal detection thresholds are abnormal in symptomatic patients, and intraepidermal nerve fiber density (IENFD) in skin biopsies is reduced. Case presentation: A 41-year-old male was included as a healthy subject in a study of the spontaneous variability of quantitative sensory testing (QST), nerve conduction studies (NCS), and IENFD...
March 2018: Brain and Behavior
Takashi Kanamori, Shigeru Kusumoto, Kenji Okita, Shinya Hagiwara, Chie Kato, Takahiro Nakashima, Satsuki Murakami, Tomoko Narita, Asahi Ito, Masaki Ri, Takashi Ishida, Hirokazu Komatsu, Noriyuki Matsukawa, Shinsuke Iida
A 40-year-old female presented with a skin rash, hepatosplenomegaly, hypothyroidism, IgG-λ monoclonal gammopathy, slightly elevated serum VEGF levels, and >1-year history of weakness in the posterior cervical muscles. Based on these symptoms and her clinical course, she was suspected of having POEMS syndrome. However, because there was no sign of peripheral neuropathy (PN), the criteria for the diagnosis of POEMS syndrome were not met. Consequently, she continued follow-up and was under close observation as an outpatient...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
Leonel J F Estofan, Stanislav Naydin, Gediminas Gliebus
We present a case report of a 20-year-old male with diabetes mellitus type 1, who developed severe painful peripheral neuropathy while on the second of a 10-day course with levofloxacin for the treatment of epididymitis. The intensity of the pain rapidly reached scores of 10/10 in a numeric scale 0/10, and the patient was transferred to an inpatient pain unit where he was treated aggressively with minimal improvement. A skin biopsy revealed small fiber neuropathy. Then the patient was treated with intravenous immunoglobulin, which improved the pain...
January 2018: Journal of Investigative Medicine High Impact Case Reports
Vincenzo Provitera, Christopher H Gibbons, Gwen Wendelschafer-Crabb, Vincenzo Donadio, Dino F Vitale, Adam Loavenbruck, Annamaria Stancanelli, Giuseppe Caporaso, Rocco Liguori, Ningshan Wang, Lucio Santoro, William R Kennedy, Maria Nolano
BACKGROUND: We aimed to test the clinical utility of leg to thigh intraepidermal nerve fiber (IENF) density ratio as a parameter to discriminate between length-dependent small fiber neuropathy (SFN) and small fiber sensory ganglionopathy (SFSG) in subjects with signs and symptoms of small fiber pathology. METHODS: We retrospectively evaluated thigh and leg IENF density in 314 subjects with small fiber pathology (173 with distal symmetrical length-dependent SFN and 141 with non length-dependent SFSG)...
March 1, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Min K Kang, Rajesh K Gupta, Jayashri Srinivasan
We describe 2 patients presenting with multiplex mononeuritis, associated with skin manifestation, secondary to minocycline-induced vasculitis. One of the cases is associated neither with lupus nor polyarteritis nodosa. An extensive laboratory workup ruled out any possible underlying immunologic disorder. Electrodiagnostic studies were conducted to show axonal neuropathy in patchy and multifocal distribution consistent with multiplex mononeuritis. This diagnosis was confirmed with nerve biopsy. Withdrawing from the offending medication, minocycline, improved the patients' clinical condition and the quantitative serological measures...
March 2018: Journal of Clinical Neuromuscular Disease
Sumit Verma, Parul Goyal, Lokesh Guglani, Charlotte Peinhardt, Diane Pelzek, Paul E Barkhaus
OBJECTIVES: COL6A and LAMA2 are subtypes of congenital muscular dystrophy. METHODS: Retrospective chart review of clinical findings, spirometry, muscle histology, muscle ultrasound, neuroimaging, and Electromyography (EMG)/Nerve Conduction Study data in genetically confirmed COL6A and LAMA2 subjects. RESULTS: We identified 8 COL6A and 6 LAMA2 subjects: the female-to-male ratio was 1.3:1 and the mean age was 11.9 ± 3.6 years. Gross motor delays since birth, proximal muscle weakness, and contractures were noted in both groups...
March 2018: Journal of Clinical Neuromuscular Disease
Mathilde Duchesne, Aurore Danigo, Laurence Richard, Jean-Michel Vallat, Shahram Attarian, Pierre-Marie Gonnaud, Arnaud Lacour, Yann Péréon, Tania Stojkovic, Klaus-Armin Nave, Viviane Bertrand, Serguei Nabirotchkin, Daniel Cohen, Claire Demiot, Laurent Magy
Charcot-Marie-Tooth disease type 1A (CMT1A), the most common form of Charcot-Marie-Tooth diseases, is a demyelinating neuropathy caused by a deletion encompassing the gene coding for PMP22, a myelin protein of the peripheral nervous system. Although myelinated fibers are mostly involved in CMT1A, some patients experience neuropathic pain. We thus investigated whether unmyelinated fibers are lost in CMT1A. Skin biopsies were taken from the distal portion of the leg of 80 patients with CMT1A as part of the PXT30003-01 study and processed for quantification of intraepidermal nerve fiber density (IENFD)...
February 2, 2018: Journal of Neuropathology and Experimental Neurology
Asuka Asanome, Kohei Kano, Kae Takahashi, Tsukasa Saito, Jun Sawada, Takayuki Katayama
A 58-year-old female was admitted to our hospital because of recurrent multiple cranial neuropathy (right facial palsy followed by involvement of the left trigeminal, facial, acoustic, pharyngeal, and vagal nerves and the right abducens nerve). Brain MRI showed gadolinium enhancement of the right abducens, bilateral facial/acoustic, and left pharyngeal/vagal nerves, and 18F-Fluorodeoxyglucose (FDG)-positron emission tomography revealed abnormal FDG uptake in the right facial, acoustic, pharyngeal, and vagal nerves and the left cervical lymph nodes...
January 31, 2018: Rinshō Shinkeigaku, Clinical Neurology
Catharine Pearce, Suzy Hope, Joseph Butchart
An 84-year-old woman presented with severe postural hypotension. Further assessment revealed weight loss, fatigue and fever at night. On examination, she had bilateral skin lesions on the inner thighs and skin biopsy revealed intravascular high grade B cell lymphoma. This was successfully treated with curative chemotherapy. The cause of the postural hypotension in this case was felt likely to be autonomic neuropathy caused by neurovascular infiltration by intravascular lymphoma. Treatment of the lymphoma has resolved the postural hypotension, although some symptoms of postural instability persist...
January 29, 2018: BMJ Case Reports
Nicolas Collongues, Brigitte Samama, Catherine Schmidt-Mutter, Ludivine Chamard-Witkowski, Marc Debouverie, Jean-Baptiste Chanson, Maria-Cristina Antal, Karelle Benardais, Jérôme de Seze, Michel Velten, Nelly Boehm
BACKGROUND: Skin biopsy is the most relevant tool to diagnose small-fiber neuropathy. A well-documented normal dataset for intraepidermal nerve fiber in the distal leg is required to improve its diagnostic value. METHODS: Three hundred healthy subjects were enrolled in the study, after clinical and biological screening to exclude neurological and systemic pathologies. A distal leg biopsy was taken and intraepidermal nerve fiber density after protein gene product-9...
2018: PloS One
Hardik Sonani, Sohail Abdul Salim, Vishnu V Garla, Anna Wile, Venkataraman Palabindala
BACKGROUND Bullosis diabeticorum (BD) is a condition characterized by recurrent, spontaneous, and non-inflammatory blistering in patients with poorly controlled diabetes mellitus. While etiopathogenesis remains unclear, roles of neuropathy, vasculopathy and UV light are hypothesized. Most literature reports negative direct and indirect immunofluorescence findings in diabetics with bullous eruptions. Porphyria cutanea tarda, bullous pemphigoid, epidermolysis bullosa, and pseudoporphyria are other differential diagnoses of bullous lesions, and they must be excluded...
January 15, 2018: American Journal of Case Reports
Violaine Plante-Bordeneuve
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a progressive, fatal, inherited disorder first identified in Portugal and now recognized in all continents. Over the past decade, thanks to the availability of the genetic test, our knowledge on the range of clinical expressions of this disorder has expanded, including different patterns and progression rates of the neuropathy, as well as aspects of the cardiomyopathy, which can be prominent. In the mean time, new tools are being developed to detect earlier TTR amyloid deposition such as cardiac scintigraphy with technetium-labelled pyrophosphate tracers or small nerve fiber alterations from skin biopsies, or using neurophysiological approaches as well as magnetic resonance neurography (MRN)...
December 16, 2017: Journal of Neurology
Jenjira Mountford, Fitri Octaviana, Riwanti Estiasari, Denise Dewanto Setiawan, Ibnu Ariyanto, Silvia Lee, Jessica Gaff, Constance Chew, Connie Jackaman, Peter Kamerman, Catherine Cherry, Patricia Price
OBJECTIVE: HIV-associated sensory neuropathy (HIV-SN) remains common in HIV+ individuals receiving anti-retroviral therapy (ART), even though neurotoxic anti-retroviral drugs (e.g. stavudine) have been phased out of use. Accumulating evidence indicates that the neuropathy is immune-mediated. We hypothesise that chemokines produced locally in the skin promote migration of macrophages and T-cells into the tissue, damaging cutaneous nerves causing HIV-SN. DESIGN: We assessed chemokine receptor expression on infiltrating CD14 and CD3 cells around cutaneous nerves in standardised skin biopsies from HIV-SN+ patients (n = 5), HIV-SN- patients (n = 9) and healthy controls (n = 4)...
December 12, 2017: AIDS
A Desai, R Ugorji, A Khachemoune
Acral melanoma (AM) is a rare subtype of cutaneous malignant melanoma found on acral skin, primarily on the soles of the feet. Although rare, it is the most common subtype of melanoma found in patients of African or Asian ethnicity and has a poor prognosis, often because of the more advanced stage of presentation at diagnosis. In the second of this two-part series, we review the clinical presentation, histopathology, diagnosis and management of AM. Clinically, AM presents as a variegated lesion with blue-black pigment and irregular borders on acral skin...
December 13, 2017: Clinical and Experimental Dermatology
Timo Siepmann, Ana Isabel Penzlin, Ben Min-Woo Illigens, Heinz Reichmann
In patients with Parkinson's disease (PD), the molecularly misfolded form of α -synuclein was recently identified in cutaneous autonomic nerve fibers which displayed increased accumulation even in early disease stages. However, the underlying mechanisms of synucleinopathic nerve damage and its implication for brain pathology in later life remain to be elucidated. To date, specific diagnostic tools to evaluate small fiber pathology and to discriminate neurodegenerative proteinopathies are rare. Recently, research has indicated that deposition of α -synuclein in cutaneous nerve fibers quantified via immunohistochemistry in superficial skin biopsies might be a valid marker of PD which could facilitate early diagnosis and monitoring of disease progression...
2017: Parkinson's Disease
Hien Tran Zhao, Sagar Damle, Karli Ikeda-Lee, Steven Kuntz, Jian Li, Apoorva Mohan, Aneeza Kim, Gene Hung, Mark A Scheideler, Steven S Scherer, John Svaren, Eric E Swayze, Holly B Kordasiewicz
Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by duplication of peripheral myelin protein 22 (PMP22) and is the most common hereditary peripheral neuropathy. CMT1A is characterized by demyelination and axonal loss, which underlie slowed motor nerve conduction velocity (MNCV) and reduced compound muscle action potentials (CMAP) in patients. There is currently no known treatment for this disease. Here, we show that antisense oligonucleotides (ASOs) effectively suppress PMP22 mRNA in affected nerves in 2 murine CMT1A models...
January 2, 2018: Journal of Clinical Investigation
Gülçin Otar Yener, Zahide Ekici Tekin, Neşe Çallı Demirkan, Selçuk Yüksel
Eosinophilic granulomatosis with polyangiitis (EGPA), also known as Churg-Strauss syndrome, is a systemic necrotizing vasculitis of the small and medium vessels. It is primarily associated with respiratory conditions such as asthma and sinusitis as well as eosinophilia, neuropathy, pulmonary infiltrates, and vasculitis. EGPA is extremely rare in the pediatric age group, and respiratory system disorders are usually predominant in EGPA patients. A 14-year-old boy presented with rash and severe extremity pain...
November 30, 2017: Rheumatology International
Diogo Fernandes Dos Santos, Matheus Rocha Mendonça, Douglas Eulálio Antunes, Elaine Fávaro Pípi Sabino, Raquel Campos Pereira, Luiz Ricardo Goulart, Isabela Maria Bernardes Goulart
BACKGROUND: Leprosy neuropathy is considered the most common peripheral neuropathy of infectious etiology worldwide, representing a public health problem. Clinical diagnosis of primary neural leprosy (PNL) is challenging, since no skin lesions are found and the slit skin smear bacilloscopy is negative. However, there are still controversial concepts regarding the primary-neural versus pure-neural leprosy definition, which will be explored by using multiple clinical-laboratory analyses in this study...
November 2017: PLoS Neglected Tropical Diseases
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"