Raynaud Phenomenon and Other Vasospastic Disorders

Casanegra, Ana I.; Shepherd, Roger F.J.

doi:10.1016/j.ccl.2021.06.010

Cited by 5 publications

(2 citation statements)

References 62 publications

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“…It is named as the Primary Raynaud's Phenomenon (PRP) when there is no underlying disease, and as the secondary form (Raynaud's Syndrome) when associated with an underlying disease 1 . The distinction between these two forms is important, as the prognosis, severity and treatment of both forms differ 2 . The prognosis of the primary form is generally benign and gangrene or tissue loss is very rare 3 .…”

Section: Introductionmentioning

confidence: 99%

Primer Raynaud fenomeni olgularında ATP-bağımlı potasyum kanal proteinlerini kodlayan genlerde rastlanan varyasyonların belirlenmesi

Akkapulu

Yıldırım

VEZİR

et al. 2023

Cukurova Medical Journal

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Purpose: Primary Raynaud’s phenomenon (PRP) is a vascular disorder characterized by recurrent vasospastic response of the fingers and toes to cold or stress. ATP-sensitive potassium (KATP) channels are widely distributed in vasculatures, and play an important role in the vascular tone regulation. The major vascular isoform of KATP channels is composed of Kir6.1/SUR2 (KCNJ8/ABCC9). It would be important to determine whether variations of KATP genes related to PRP is thought to be associated with vasospasm. It is believed that the studies describing mechanisms involved in the pathogenesis of inherited vascular disorders offers the best opportunity for investigation of the early stages of pathogenicity and diagnosis of PRP and associated other diseases. In this study we aim to investigate possible association between genetic variations observed in KATP channel coding genes and vasospasm associated with PRP. Materials and Methods: In our study; the cases with PRP, the relation between the variation in the KCNJ8/ABCC9 genes (S422L/V734I or rs72554071/rs61688134) was examined. 50 subjects who were diagnosed with PRP (patient group) and 50 healthy subjects (control group) were included in the study. Variations were determined using the Tetra-Primer Amplification Refractory Mutation System-Polymerase Chain Reaction (T-ARMS PCR) method. Results: Of the individuals in the patient and control group included in the study, 21 were male and 29 were female. The mean age of the patients was 25.7±3.36 years, and the mean age of the control group was 25.9±3.44 years. No significant relationship was found between PRP disease and genotype and allele distribution of KCNJ8/ABCC9 genes. Conclusion: This study presented the first findings about KCNJ8/ABCC9 gene variations in the Turkish population and may lead to future studies. Studies involving a higher number of cases and more mutations will be able to show whether there is a relationship between KATP channels and PRP and contribute to the elucidation of PRP pathogenesis in terms of genetic factors.

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Section: Introductionmentioning

confidence: 99%

Primer Raynaud fenomeni olgularında ATP-bağımlı potasyum kanal proteinlerini kodlayan genlerde rastlanan varyasyonların belirlenmesi

Akkapulu

Yıldırım

VEZİR

et al. 2023

Cukurova Medical Journal

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“…Primary care clinicians evaluating a patient with a vasospastic dis order must consider whether the disorder is primary or sec ondary; a secondary vasospastic disorder can carry a poor prognosis and lead to loss of tissue. 1 Acrocyanosis is a pain less discoloration of the skin, and erythema pernio (also called chilblains) results from an inflammatory process that causes erythema and edema of the skin. Both conditions most commonly involve distal body parts such as the hands and feet.…”

Section: Introductionmentioning

confidence: 99%

Vincristine-Induced Acrocyanosis and Erythema Pernio

Middleton

Boswell

Houwink

et al. 2023

J Prim Care Community Health

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Introduction: Acrocyanosis and erythema pernio are 2 dermatologic manifestations of vasospastic changes. Primary care providers should consider that these conditions can occur as primary or idiopathic conditions and as secondary conditions related to another disease or medication. Herein we describe a case of acrocyanosis and erythema pernio attributed to vincristine therapy. Case Description: A 22-year-old man was evaluated for discomfort and red lesions involving the toes of both feet for several weeks. He had completed chemotherapy 1 month earlier for Ewing sarcoma in the right femur. Local control for the primary tumor included wide local excision and reconstruction with a vascularized fibular allograft from the right fibula. On examination, his right foot was dark blue and cool. Toes on both feet had nonpainful erythematous papules. After the case was discussed with the patient’s oncology team, the diagnosis was medication-induced acrocyanosis of the right foot and bilateral erythema pernio. Treatment consisted of supportive care to keep the feet warm and promote circulation to the feet. At 2-week follow-up, the patient’s symptoms and the appearance of his feet had markedly improved. Discussion: Primary care clinicians should be able to recognize dermatologic manifestations of vasospastic changes, including acrocyanosis and erythema pernio, and rule out possible secondary causes, such as pharmacologic agents. This patient’s history of therapy for Ewing sarcoma prompted consideration of medication-induced vasospastic changes most likely related to the adverse vasospastic effects of vincristine. Symptoms should improve with cessation of the offending medication.

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