neuropathy skin biopsy

BACKGROUD: Diabetic neuropathy (DN) is one of the most common complications of diabetes, affecting about half of individuals with the disease. Among the various symptoms of DN, the development of chronic pain stands out and manifests as exacerbated responses to sensorial stimuli. The conventional clinical treatments used for general neuropathy and associated painful symptoms, still brings uncomplete and unsatisfactory pain relief. Patients with neuropathic pain syndromes are heterogeneous...

Charcot-Marie-Tooth disease (CMT) rarely presents with painful symptoms, which mainly occur in association with myelin protein zero ( MPZ ) gene mutations. We aimed to further characterize the features of painful neuropathic phenotypes in MPZ -related CMT. We report on a 58-year-old woman with a longstanding history of intermittent migrant pain and dysesthesias. Examination showed minimal clinical signs of neuropathy along with mild changes upon electroneurographic examination, consistent with an intermediate pattern, and small-fiber loss upon skin biopsy...

Neurosarcoidosis is an uncommon but potentially serious disease of the central nervous system that can cause major sequelae. We analyzed the presence and diagnostic usefulness of specific cutaneous lesions in 58 patients with neurosarcoidosis (14 men and 2 women; mean age, 50 years [range, 20-84 years]). Sixteen (27.6%) had specific cutaneous lesions. Twenty-four types of neurological lesions were observed: cranial neuropathy (n = 7), parenchymal lesions (n = 4), meningeal lesions (n = 3), myelopathy (n = 3), pituitary lesions (n = 1), hydrocephalus (n = 2), and peripheral neuropathy (n = 4)...

BACKGROUND: Oxaliplatin-induced peripheral neuropathy (OIPN) in general and painful OIPN in particular is a debilitating late effect that severely affects cancer survivors' quality of life and causes premature cessation of potentially lifesaving treatment. No preventive treatments and no effective treatment for chronic OIPN exist despite many attempts. One of several suggested mechanisms includes neuroinflammation as a contributing factor to OIPN. Fish oil containing long-chain n-3 polyunsaturated fatty acids (n-3 LCPUFAs) are precursors to specialized proresolving mediators that mediate the resolution of inflammation...

Autonomic symptom questionnaires are frequently used to assess dysautonomia. It is unknown whether subjective dysautonomia obtained from autonomic questionnaires correlates with objective dysautonomia measured by quantitative autonomic testing. The objective of our study was to determine correlations between subjective and objective measures of dysautonomia. This was a retrospective cross-sectional study conducted at Brigham and Women's Faulkner Hospital Autonomic Laboratory between 2017 and 2023 evaluating the patients who completed autonomic testing...

We present a case of POEMS syndrome from Turkiye, a rare, multisystemic condition resulting from plasma cell dyscrasia. POEMS is an acronym representing its cardinal features: Peripheral neuropathy; Organomegaly; Endocrinopathy; Monoclonal plasma-cell proliferative disorder; and Skin changes. The syndrome has an estimated prevalence of 0.3 per 100,000 individuals and typically manifests in the fifth or sixth decade of life. Progressive peripheral neuropathy is the syndrome's most prominent symptom. To ensure an accurate diagnosis, a thorough medical history, physical examination, and comprehensive diagnostic evaluations are essential...

BACKGROUND: Complex regional pain syndrome (CRPS) develops after injury and is characterized by disproportionate pain, oedema, and functional loss. CRPS has clinical signs of neuropathy as well as neurogenic inflammation. Here, we asked whether skin biopsies could be used to differentiate the contribution of these two systems to ultimately guide therapy. To this end, the cutaneous sensory system including nerve fibres and the recently described nociceptive Schwann cells as well as the cutaneous immune system were analysed...

INTRODUCTION: Previous clinical observations raised the possibility that COVID-19 vaccination might trigger a small-fibre neuropathy. OBJECTIVES: In this uncontrolled observational study, we aimed to identify small fibre damage in patients complaining of generalized sensory symptoms and pain after COVID-19 vaccination. METHODS: We collected clinical data, including a questionnaire for assessing autonomic symptoms (Composite Autonomic Symptom Score-31), and investigated quantitative sensory testing (QST) and skin biopsy in 15 prospectively enrolled patients with generalized sensory symptoms and pain after COVID-19 vaccination...

The clinical characteristics, auxiliary examinations, skin and neuropathological features of 7 patients who had reticular cyanosis with peripheral neuropathy from the Department of Neurology, Huashan Hospital, Fudan University from January 2019 to December 2022 were retrospectively analyzed. Among the 7 patients, 5 were female and 2 were male.The age of onset of peripheral neuropathy was (39.8±21.3) years and the disease duration of peripheral neuropathy was (2.7±2.3) years. Three patients had acute onset and 4 patients had chronic onset...

BACKGROUND: The NADH dehydrogenase [ubiquinone] iron-sulfur protein 6 (NDUFS6) gene encodes for an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Bi-allelic NDUFS6 variants have been linked with a severe disorder mostly reported as a lethal infantile mitochondrial disease (LMID) or Leigh syndrome (LS). OBJECTIVE: Here, we identified a homozygous variant (c.309 + 5 G >  A) in NDUFS6 in one male patient with axonal neuropathy accompanied by loss of small fibers in skin biopsy and further complicated by optic atrophy and borderline intellectual disability...

BACKGROUND: Neuropathic pain is difficult to diagnose and treat. Small fiber neuropathy (SFN) flies under the radar of nerve conduction studies. OBJECTIVES: The importance of a structured patient history and physical examination in the context of neuropathic pain is emphasized. Describing SFN as an important cause, the authors consider rare but partially treatable differential diagnoses. They conclude that autonomic symptoms are frequently associated, often presenting with diverse symptoms...

BACKGROUND AND PURPOSE: Diagnosing small fiber neuropathies can be challenging. To address this issue, whether serum neurofilament light chain (sNfL) could serve as a potential biomarker of damage to epidermal Aδ- and C-fibers was tested. METHODS: Serum NfL levels were assessed in 30 patients diagnosed with small fiber neuropathy and were compared to a control group of 19 healthy individuals. Electrophysiological studies, quantitative sensory testing and quantification of intraepidermal nerve fiber density after skin biopsy were performed in both the proximal and distal leg...

BACKGROUND AND AIMS: Chemotherapy-induced peripheral neurotoxicity (CIPN) is one of the most common dose-limiting side effects of paclitaxel (PTX) treatment. Many age-related changes have been hypothesized to underlie susceptibility to damage or impaired regeneration/repair after nerve injury. The results of these studies, however, are inconclusive and other potential biomarkers of nerve impairment need to be investigated. METHODS: Twenty-four young (2 months) and 24 adult (9 months) Wistar male rats were randomized to either PTX treatment (10 mg/kg i...

In the last decades, peripheral sensory abnormalities, including the evidence of cutaneous denervation, have been reported among the non-motor manifestations in amyotrophic lateral sclerosis (ALS). However, a correlation between cutaneous innervation and clinical features has not been found. Aims of this study were to assess sensory involvement by applying a morpho-functional approach on a large population of ALS patients stratified according to King's stages and to correlate these findings with the severity and prognosis of the disease...

RATIONALE: POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal paraproteinemia, and skin changes) syndrome is a rare clinical syndrome characterized by multiple peripheral neuropathies, hepatosplenomegaly, endocrine disorders, monoclonal paraproteinemia, and dermatosis. The main manifestations of POMES were nerve and skin changes, and bone disease was not reported. Here, we report a case of POEMS syndrome with the main manifestation of bone lesions. PATIENT CONCERNS: POMES is rare and its clinical manifestations are complex, making it difficult for patients to find the department they should visit...

INTRODUCTION/AIMS: Diagnosis of small-fiber neuropathy (SFN) is hampered by its subjective symptoms and signs. Confirmatory testing is insufficiently available and expensive, so predictive examinations have value. However, few support the 2020 SFN consensus-case-definition requirements or were validated for non-diabetes neuropathies. Thus we developed the Massachusetts General Hospital Neuropathy Exam Tool (MAGNET) and measured diagnostic performance in 160 symptomatic patients evaluated for length-dependent SFN from any cause and 37 healthy volunteers...

De Sanctis-Cacchione syndrome (DCS) formerly known as xerodermic idiocy is characterised by cutaneous photosensitivity, microcephaly, mental retardation, short stature, hypogonadism, spasticity, peripheral neuropathy and sensorineural deafness. Here in, we present the case of a four and half years old male child with features of severe acute malnutrition (SAM) with a typical bird like facies and sunken eyes who had history of photosensitive pruritic pigmentary skin lesions on sun exposed areas from a very early age of six months...

A 33-year-old female was admitted to our department complaining of multifocal paresthesia and weakness of the upper and lower extremities that had developed over the previous three months. She had also been undergoing treatment for atopic dermatitis with dupilumab, an anti-interleukin 4/13 receptor antibody. A nerve conduction study revealed multifocal axonal sensorimotor neuropathy of bilateral limbs. On admission, a small erythema appeared on her right forearm, but it was atypical for vasculitic skin lesions due to its location and time course...

Polyarteritis nodosa (PAN) is a rare autoimmune vasculitis characterized by the inflammation of medium-sized arteries throughout the body. This case report presents the clinical course of a 48-year-old female patient who experienced a complex diagnostic journey and complications during the management of PAN. The patient initially presented with dry skin, rash, and pruritus, which led to an extensive evaluation. Despite multiple visits and investigations, the definitive diagnosis of PAN was delayed. Eventually, the patient was diagnosed with PAN based on skin biopsy findings demonstrating vasculitis and inflammation of blood vessel walls...

Small fiber neuropathy (SFN) has not been reported after the third dose of BNT162b2 in a previously healthy vaccinee. A 44-year-old previously healthy female developed pain and sensory disturbances in varying locations after the third BNT162b2 dose. Additionally, she developed recurrent tinnitus, headaches, arthralgia, neck stiffness, and motor dysfunction. A skin biopsy five months after symptom onset revealed normal intra-epidermal nerve fiber density (IENFD) but reduced sweat gland nerve fiber density. She is intended for a first series of intravenous immunoglobulins...