Results 51 to 60 of about 3,693 (191)
Primary erythromelalgia: a clinical diagnosis
Portuguese Journal of Pediatrics, 2023 Erythromelalgia is a rare chronic disorder characterized by a triad of intermittently red, hot and painful extremities. The syndrome usually affects the lower extremities with symmetrical cutaneous findings, but may also involve the upper extremities and,
Maria Sousa-Dias +2 more
doaj +1 more source
Case Report and Literature Review: Interventional Management of Erythromelalgia. [PDF]
, 2019 Erythromelalgia is a rare and very difficult to treat pain syndrome that usually presents as severe bilateral burning pain in the extremities. Here we present a case of a 34-year-old female with erythromelalgia who we treated successfully with a lumbar ...
Chinn, Gregory, Guan, Zhonghui
core
Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]
, 2013 Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui +2 more
core +2 more sources
Patient Characteristics, Healthcare Contacts and Drug Use in Polycythaemia Vera in Denmark
European Journal of Haematology, Volume 115, Issue 5, Page 474-483, November 2025.ABSTRACT Objective Patients with polycythaemia vera (PV) may experience symptoms and cardiovascular complications before receiving a diagnosis. Understanding the associated patterns of healthcare and drug utilisation may help detect patients who need diagnostic workup.
Karoline Mathilde Lundgaard +4 more
wiley +1 more source
Sodium channel slow inactivation interferes with open channel block [PDF]
Mutations in the voltage-gated sodium channel Nav1.7 are linked to inherited pain syndromes such as erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEPD). PEPD mutations impair Nav1.7 fast inactivation and increase persistent currents.
A Kondratiev +43 more
core +1 more source
Trigeminal neuralgia - diagnosis and treatment [PDF]
, 2017 Introduction Trigeminal neuralgia (TN) is characterized by touch-evoked unilateral brief shock-like paroxysmal pain in one or more divisions of the trigeminal nerve. In addition to the paroxysmal pain, some patients also have continuous pain.
Bendtsen, Lars +3 more
core +1 more source
Molecular Pain, 2008 Background Primary erythromelalgia is an autosomal dominant pain disorder characterized by burning pain and skin redness in the extremities, with onset of symptoms during the first decade in the families whose mutations have been physiologically studied ...
Dib-Hajj Sulayman D +3 more
doaj +1 more source
Congenital Adrenal Hyperplasia: A Case Report with Premature Teeth Exfoliation and Bone Resorption [PDF]
, 2015 Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by insufficient production of cortisol. The aim of this case report was to present a child with CAH, premature exfoliation of primary teeth and accelerated ...
Angelopoulou, Matina V. +2 more
core +1 more source
SCN9A should not be considered an epilepsy gene; Refuting a gene–disease association
Epilepsia, Volume 66, Issue 9, Page 3516-3527, September 2025.Abstract Objective The SCN9A gene is primarily expressed in nociceptive pathways within the peripheral nervous system, and pathogenic variants are associated with human pain disorders. In recent years, several studies have proposed SCN9A as a monogenic cause of epilepsy.
Ismael Ghanty +7 more
wiley +1 more source
, 2015 Background: Recent genome-wide association studies (GWAS) have identified a large number of genetic risk factors for schizophrenia (SCZ) featuring ion channels and calcium transporters.
Andreassen, Ole A. +9 more
core +2 more sources