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877 results
  • Painful, reappearing eruption in a medically complex 4-year-old. [Journal Article]
    BMJ Case Rep. 2021 Feb 18; 14(2)Sooy M, Randell RL, … Nazareth-Pidgeon K
  • A 4-year-old boy with atypical, complete DiGeorge and CHARGE (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities and ear abnormalities) syndromes presented with frequent episodes of a painful, markedly erythematous eruption associated with swelling. Evaluation revealed non-specific findings on skin biopsy at the time of eruption and no pathogenic mutation in the S…
  • Two Cases of Severe Hypertension in JAK2 Mutation-Positive Myeloproliferative Neoplasms. [Case Reports]
    Case Rep Vasc Med. 2020; 2020:8887423.Rao R, Kulkarni S, Wilkinson IB
  • CONCLUSIONS: These presentations highlight the utility of full blood count analysis in patients with severe hypertension. Hyperviscosity and constitutive JAK-STAT activation are amongst the proposed pathophysiology linking myeloproliferative neoplasms and hypertension. Further experimental and clinical research is necessary to identify and understand possible interactions between BP and myeloproliferative neoplasms.
  • Assessing the impact of pain-linked Nav1.7 variants: An example of two variants with no biophysical effect. [Journal Article]
    Channels (Austin). 2021 Dec; 15(1):208-228.Le Cann K, Meents JE, … Lampert A
  • Mutations in the voltage-gated sodium channel Nav1.7 are linked to human pain. The Nav1.7/N1245S variant was described before in several patients suffering from primary erythromelalgia and/or olfactory hypersensitivity. We have identified this variant in a pain patient and a patient suffering from severe and life-threatening orthostatic hypotension. In addition, we report a female patient sufferi…
  • Erythromelalgia Caused by Polycythemia Vera Combined with Primary Aldosteronism. [Journal Article]
    Eur J Case Rep Intern Med. 2020; 7(11):001852.Suzuki M, Watari T
  • A 61-year-old woman with a history of primary aldosteronism caused by unilateral hyperplasia of the adrenal gland presented with a 2-week history of redness and severe pain in the right thumb and thenar regions. She had initially visited a dermatologist and was diagnosed with cellulitis and treated with cefditoren pivoxil for 5 days, but there was no improvement. The pain worsened and was accompa…
  • Acute monophasic erythromelalgia pain in five children diagnosed as small-fiber neuropathy. [Case Reports]
    Eur J Paediatr Neurol. 2020 Sep; 28:198-204.Faignart N, Nguyen K, … Roulet Perez E
  • The small-fiber polyneuropathies (SFN) are a class of diseases in which the small thin myelinated (Aδ) and/or unmyelinated (C) fibers within peripheral nerves malfunction and can degenerate. SFN usually begins in the farthest, most-vulnerable axons, so distal neuropathic pain and symptoms from microvascular dysregulation are common. It is well known in adults, e.g. from diabetes, human immunodefi…
  • Heater-Associated Erythema Ab Igne: Case Report and Review of Thermal-Related Skin Conditions. [Case Reports]
    Cureus. 2020 May 11; 12(5):e8057.Forouzan P, Riahi RR, Cohen PR
  • Erythema ab igne is a thermal-associated skin condition that can occur secondary to persistent direct or indirect contact with heat. Historically, erythema ab igne has been linked to fireplace and stove exposures; more recently, it has been associated with heaters, hot water bottles, and laptops. A 48-year-old woman presented for the evaluation of hyperpigmented, reticulated macular lesions on he…
  • Red scrotum syndrome: An update on clinicopathologic features, pathogenesis, diagnosis, and management. [Review]
    J Am Acad Dermatol. 2020 Jun 01 [Online ahead of print]Khalil S, Kurban M, Abbas O
  • The genital skin may be affected by a variety of dermatoses, be it inflammatory, infectious, malignant, idiopathic, or others. The red scrotum syndrome is characterized by persistent erythema of the scrotum associated with a burning sensation, hyperalgesia, and itching. Its cause is unknown, but proposed mechanisms include rebound vasodilation after prolonged topical corticosteroid use and locali…
  • StatPearls: Erythromelalgia [BOOK]
    StatPearls. StatPearls Publishing: Treasure Island (FL) Jha Suman K. SK B.P. Koirala Institute of Health Sciences Karna Bibek B B.P. Koirala Institute Of Health Sciences Goodman Marcus B. MB Philadelphia College of Osteopathic Med. BOOK
  • Erythromelalgia is a rare clinical syndrome characterized by a triad of redness, warmth, and burning pain, most notably affecting the extremities. It usually affects the lower extremities (most commonly feet) or may involve upper extremities (hands) in few cases. The episodes are typically precipitated by exercise and relieved by cooling the affected parts. Although erythromelalgia is typically b…
  • Heterogeneous presentation of caspr2 antibody-associated peripheral neuropathy - A case series. [Case Reports]
    Eur J Pain. 2020 08; 24(7):1411-1418.Ellwardt E, Geber C, … Birklein F
  • Contactin-associated protein 2-like (caspr2) antibodies have been discovered recently. Since then a multitude of patients with caspr2 antibodies presenting with different neurological symptoms have been reported. Here, we describe three patients with caspr2 antibodies with different types of pain/no pain in combination with peripheral neuropathy. The first patient, a 33-year-old woman, presented …
    Georgian Med News. 2020 FebGhirdaladze D, Vatsadze T, Kirtava T
  • The aim of the studywas to determine the risk of thrombosis among patients with Essential thrombocythemia based on the modern criteria of diagnosis and to reveal the treatment accordingmethods of research in Georgia. We analyzed clinical manifestations of 25 cases of Essential thrombocythemia diagnosed in 2013-2017 y. at the Institute of Hematology and Transfusiology. Among 25 patients, female wa…
  • GeneReviews®: SCN9A Neuropathic Pain Syndromes [BOOK]
    GeneReviews®. University of Washington, Seattle: Seattle (WA)Adam MP, Ardinger HH, … Amemiya AHisama FM, Dib-Hajj SD, … Waxman SGBOOK
  • SCN9A neuropathic pain syndromes (SCN9A-NPS) comprise SCN9A erythromelalgia (EM), SCN9A paroxysmal extreme pain disorder (PEPD), and SCN9A small fiber neuropathy (SFN). SCN9A-EM is characterized by recurrent episodes of bilateral intense, burning pain, and redness, warmth, and occasionally swelling. While the feet are more commonly affected than the hands, in severely affected individuals the leg…
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