Nomograms for the lower normal limits of epidermal nerve fibers number and their morphological alterations according to age and sex.
The intraepidermal nerve fiber density (IENFD) has been established as the gold standard for the evaluation of small fiber neuropathy (SFN). There is a decrease in IENFD with age, so its sensitivity depends on the accuracy of lower normal limits. IENFD lower normal limits proposed by previous multic…
Impact of diabetic peripheral neuropathy on skeletal muscle microvascular function: A blood oxygen level dependent magnetic resonance imaging study.
Diabetic peripheral neuropathy (DPN) is associated with impaired skeletal muscle function, particularly in the lower limbs. However, microvascular function in lower leg skeletal muscles among individuals with type 1 diabetes mellitus (T1DM), stratified by DPN and neuropathic pain status, remains poo…
Functional impact of the TRPA1 H560D variant on neuropathic pain.
Small fiber neuropathy (SFN) is characterized by acral burning pain and may be associated with genetic variants of the transient receptor potential ankyrin 1 (TRPA1) channel. We studied a 43-year-old male patient with SFN with severe acral and abdominal pain carrying the TRPA1 variant NM_007332.3:c.…
Small fiber neuropathy is a common disorder; however, its diagnosis and treatment can be challenging. This article outlines the pain pathways involved in small fiber neuropathy and provides an overview of its various causes, diagnostic tools, and therapeutic interventions. Advances in genetic evalua…
Molecular Identification of Transthyretin Amyloid in Fixed Skin Biopsies: A Simplified Sample Preparation Method.
Hereditary transthyretin (TTR) amyloidosis (ATTRv) is associated with peripheral neuropathy resulting from the accumulation of fibrillar TTR amyloid deposits in tissues including peripheral nerves and skin. Accurate diagnosis requires molecular identification of amyloid deposits in tissue specimens.…
Beyond Pain Intensity: A Patient-Informed Framework for Documenting Burden in Small Fiber Neuropathy.
Small fiber neuropathy (SFN) is a sensory-autonomic neuropathy of thinly myelinated Aδ and unmyelinated C fibers that can produce neuropathic pain and multisystem autonomic symptoms. Although diagnostic criteria and confirmatory testing have improved recognition, SFN burden may remain underrec…
The Effects of Age on the Presence of Atypical Corneal Nerve Formations.
The aim of this study was to describe the presence of atypical nerve formations (ANFs, previously termed microneuromas) and their relation to standardized ocular surface parameters and changes in the sub-basal nerve plexus in a group of patients with suspected small fiber neuropathy or type 1 diabet…