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Journal of the American Academy of... Aug 2023In this Part 2 of a 2-part continuing medical education series, we review the epidemiology of peripheral vascular disease, its association with cutaneous symptoms, and... (Review)
Review
In this Part 2 of a 2-part continuing medical education series, we review the epidemiology of peripheral vascular disease, its association with cutaneous symptoms, and the diagnosis and evaluation of cutaneous features of vascular disorders. As peripheral vascular disease becomes more prevalent globally, it is essential for dermatologists to become competent at accurately recognizing and diagnosing cutaneous manifestations and directing individuals to receive appropriate care and treatment.
Topics: Humans; Peripheral Vascular Diseases; Skin; Skin Diseases; Raynaud Disease
PubMed: 35504485
DOI: 10.1016/j.jaad.2021.05.077 -
Frontiers in Pediatrics 2022Bier anemic spots, cyanosis, and urticaria-like eruption (BASCULE) syndrome is an underreported pediatric vascular disorder from the group of acrosyndromes. In children,...
INTRODUCTION
Bier anemic spots, cyanosis, and urticaria-like eruption (BASCULE) syndrome is an underreported pediatric vascular disorder from the group of acrosyndromes. In children, these include paroxysmal acrosyndromes (Raynaud's phenomenon and chilblain-like lesions), permanent acrosyndromes (acrocyanosis), and transient acrosyndromes, in which their pathogeneses are associated with virus infections, Epstein-Barr virus, and, more recently, SARS-CoV-2, respectively.
METHODS
We reported a case of BASCULE syndrome associated with postural orthostatic tachycardia syndrome (POTS) and provided a narrative review of case reports describing the BASCULE syndrome in children. Moreover, we presented the results of a prospective practice survey that we performed in the French medical community.
RESULTS
A 14-years-old boy reported pruritic erythrocyanic lesions on the lower limbs, which occurred whenever he was in a standing position and fully resolved when he laid down. He reported asthenia and cramps. He presented a typical BASCULE syndrome associated with POTS confirmed by a tilt-test. Physical and vascular examinations were within the normal range. We identified 12 case reports, describing 21 pediatric cases since 2016. Most patients were adolescents between 12 and 19 years of age or were newborns. Furthermore, 20% of cases in the literature have presented POTS or orthostatic intolerance. Our survey among 95 French physicians confirmed that BASCULE syndrome is an underdiagnosed and under recognized disease in the general pediatric practice, at least in France. Among these physicians, 65% had already encountered patients with similar symptoms, but only 30% declared that they had knowledge of the BASCULE syndrome.
CONCLUSION
The under-recognition of the clinical manifestations leads the patients to consult emergency rooms, with multiple unnecessary investigations performed. Therefore, we suggest that the diagnosis of BASCULE syndrome is based on clinical observations, without the need for laboratory tests, to avoid unnecessary health costs. We suggest physicians to perform a tilt-test when POTS is suspected.
PubMed: 35463901
DOI: 10.3389/fped.2022.849914 -
Revista Brasileira de Enfermagem 2022to analyze the accuracy of the defining characteristics of hypothermia in patients on hemodialysis.
OBJECTIVE
to analyze the accuracy of the defining characteristics of hypothermia in patients on hemodialysis.
METHODS
a diagnostic accuracy study was assembled within a cross-sectional study with 124 patients from two dialysis centers. A latent class model was used for data analysis.
RESULTS
the nursing diagnosis hypothermia was present in 13 (10.48%) study participants. The most prevalent defining characteristics were hypoxia (100%), decrease in blood glucose level (83.1%), hypertension (65.3%), piloerection (45.2%), and skin cool to touch (41.1%). The defining characteristics acrocyanosis (99.96%) and cyanotic nail beds (99.98%) had a high sensitivity. Acrocyanosis (91.8%), skin cool to touch (64.8%), and peripheral vasoconstriction (91.8%) had high specificity.
CONCLUSION
specific and sensitive indicators of hypothermia work as good clinical indicators for confirming this diagnosis in patients on hemodialysis. The study findings can assist nurses in their clinical reasoning for a correct inference of hypothermia.
Topics: Cold Temperature; Cross-Sectional Studies; Humans; Hypothermia; Nursing Diagnosis; Renal Dialysis
PubMed: 35442311
DOI: 10.1590/0034-7167-2021-0620 -
Journal of the European Academy of... Aug 2022
Topics: Cyanosis; Humans; Raynaud Disease
PubMed: 35429067
DOI: 10.1111/jdv.18120 -
Minerva Pediatrics Mar 2022SARS-CoV2 infection may present at onset with cutaneous manifestations as chilblains, pernio-like lesions characterized by rapid onset, itching, pain and tenderness and...
BACKGROUND
SARS-CoV2 infection may present at onset with cutaneous manifestations as chilblains, pernio-like lesions characterized by rapid onset, itching, pain and tenderness and quick improvement with re-warming as similarly observed in primary acrocyanosis. The purpose of the present study was to detect in a single institution series of pediatric patients, during COVID-19 pandemic, the prevalence of acrocyanosis compared to previous period and an eventual correlation with SARS-Cov2 (Severe Acute Respiratory Syndrome Coronavirus 2) infection or other secondary etiologies of this disorder.
METHODS
We retrospectively analyzed the prevalence of pediatric patients with acrocyanosis between January 2020 and July 2021, compared to the same period of previous year. All patients were investigated with capillaroscopies, clinical and laboratory texts. Those patients referred to our Institution, during the Covid-19 pandemic were also examined for SARS-CoV2 serologies to find out an eventual specific correlation with this secondary potential etiology.
RESULTS
During the first wave of Covid-19 pandemic we observed an increased prevalence of this manifestation. The analysis showed that the higher prevalence of patients with acrocyanosis, in this period, was not related to SARS-Cov2 infection.
CONCLUSIONS
The acrocyanosis in pediatric patients is rarely associated with rheumatological diseases, being more frequently a primary disorder and strictly related to a sedentary lifestyle.
PubMed: 35319174
DOI: 10.23736/S2724-5276.22.06800-8 -
Cold Spring Harbor Molecular Case... Feb 2022Ethylmalonic encephalopathy (MIM #602473) is a rare autosomal recessive metabolic condition caused by biallelic variants in (MIM #608451), characterized by global...
Ethylmalonic encephalopathy (MIM #602473) is a rare autosomal recessive metabolic condition caused by biallelic variants in (MIM #608451), characterized by global developmental delay, infantile hypotonia, seizures, and microvascular damage. The microvascular changes result in a pattern of relapsing spontaneous diffuse petechiae and purpura, positional acrocyanosis, and pedal edema, hemorrhagic suffusions of mucous membranes, and chronic diarrhea. Here, we describe an instructive case in which ethylmalonic encephalopathy masqueraded as meningococcal septicemia and shock. Ultrarapid whole-genome testing (time to result 60 h) and prompt biochemical analysis facilitated accurate diagnosis and counseling with rapid implementation of precision treatment for the metabolic crisis related to this condition. This case provides a timely reminder to consider rare genetic diagnoses when atypical features of more common conditions are present, with an early referral to ensure prompt biochemical and genomic diagnosis.
Topics: Brain Diseases, Metabolic, Inborn; Humans; Mitochondrial Proteins; Nucleocytoplasmic Transport Proteins; Purpura; Sepsis
PubMed: 35165146
DOI: 10.1101/mcs.a006193 -
Reviews in Cardiovascular Medicine Jan 2022After reading with great interest the article entitled: "Exploring the impact of the COVID-19 pandemic on provision of cardiology services: a scoping review" redacted by...
After reading with great interest the article entitled: "Exploring the impact of the COVID-19 pandemic on provision of cardiology services: a scoping review" redacted by Farah Yasmin ., published by Reviews in Cardiovascular Medicine, we would like to add the following thoughts. Acute respiratory distress syndrome (ARDS) in Coronavirus disease 2019 (COVID-19) and pulmonary insufficiency reduces blood oxygen saturation and results in hypoxia. Therefore, the determining factor in the survival of patients with COVID-19 is their resistance to hypoxia. At the same time, it is the cardiovascular system that is an important and very sensitive link in the human adaptation to hypoxia. That is why it is necessary to carefully study the relationship between diseases of the heart, blood vessels, the reactivity of the cardiovascular system to hypoxia, and mortality in patients who develop ARDS with COVID-19.
Topics: COVID-19; Cardiology; Cardiovascular System; Humans; Hypoxia; Pandemics; Respiratory Insufficiency; SARS-CoV-2
PubMed: 35092213
DOI: 10.31083/j.rcm2301021 -
Journal of Pediatric Genetics Sep 2023Ethylmalonic encephalopathy is a rare neurometabolic disorder with central nervous system involvement and vasculopathy. It is presented in infancy with developmental...
Ethylmalonic encephalopathy is a rare neurometabolic disorder with central nervous system involvement and vasculopathy. It is presented in infancy with developmental delay, acrocyanosis, petechiae, chronic diarrhea, and early death. This was a retrospective study of confirmed cases of ethylmalonic aciduria from a tertiary care hospital over a period of 5 years from January 2015 to December 2020. Case details including analysis of clinical history, investigations, and outcomes are presented. Of six cases, male-to-female ratio was 4:2. Mean age of presentation was 35.5 months (range: 14-83 months). Consanguinity, global developmental delay, failure to thrive, skin rashes, microcephaly, hypotonia, and exaggerated deep tendon reflexes were observed in all cases. Chronic diarrhea was presented in five cases. The serum levels of C4 carnitine and urinary levels of ethylmalonic acid were increased in all cases. Magnetic resonance imaging (MRI) of the brain showed heterogenous bilateral symmetrical changes in the basal ganglia in five cases, and in one case, MRI could not be done. Genetic testing in two cases showed a homozygous variant in gene. Four children died, while the other two cases showed a decreased in recurrent encephalopathies and diarrhea after starting metronidazole. All children had global developmental delay, failure to thrive, skin rashes, central hypotonia, increased C4 carnitine levels in the serum, and increased ethylmalonic acid in the urine. Chronic diarrhea, acrocyanosis, and basal ganglia change in the MRI of the brain also give important clues for diagnosis. Metronidazole is useful in preventing recurrent episodes of encephalopathy.
PubMed: 37575639
DOI: 10.1055/s-0041-1740370 -
Archivos Argentinos de Pediatria Dec 2021Acrocyanosis triggered by standing position as the main sign of postural orthostatic tachycardia (POTS) is little known but well described in scientific literature. In...
Acrocyanosis triggered by standing position as the main sign of postural orthostatic tachycardia (POTS) is little known but well described in scientific literature. In pediatric age, POTS is defined as orthostatic intolerance that is accompanied by an excessive increase in heart rate without arterial hypotension. We present two clinical reports of teenagers who were admitted in the Emergency Department with acrocyanosis and orthostatic intolerance. The first patient was 13-year-old and had an increase in heart rate of 40 bpm when moving from a reclining to a standing position. The second patient was 14-year-old and showed an increasing in heart rate up to 125 bpm after upright position. In both patients' blood pressure was normal and all investigations were negative. They were finally diagnosed with Acrocianosis como primera manifestación de síndrome de taquicardia postural ortostática en dos adolescentes Acrocyanosis as the first manifestation of orthostatic postural tachycardia syndrome in two adolescents postural orthostatic tachycardia. Recognizing acrocyanosis as first sign of this disease is useful for diagnosis and can help to avoid unnecessary testing.
Topics: Adolescent; Blood Pressure; Child; Heart Rate; Humans; Orthostatic Intolerance; Postural Orthostatic Tachycardia Syndrome; Standing Position
PubMed: 34813247
DOI: 10.5546/aap.2021.e639 -
Frontiers in Immunology 2021Pathogenic gain-of-function variants in complement Factor B were identified as causative of atypical Hemolytic Uremic syndrome (aHUS) in 2007. These mutations generate a...
Pathogenic gain-of-function variants in complement Factor B were identified as causative of atypical Hemolytic Uremic syndrome (aHUS) in 2007. These mutations generate a reduction on the plasma levels of complement C3. A four-month-old boy was diagnosed with hypocomplementemic aHUS in May 2000, and he suffered seven recurrences during the following three years. He developed a severe hypertension which required 6 anti-hypertensive drugs and presented acrocyanosis and several confusional episodes. Plasma infusion or exchange, and immunosuppressive treatments did not improve the clinical evolution, and the patient developed end-stage renal disease at the age of 3 years. Hypertension and vascular symptoms persisted while he was on peritoneal dialysis or hemodialysis, as well as after bilateral nephrectomy. C3 levels remained low, while C4 levels were normal. In 2005, a heterozygous gain-of-function mutation in Factor B (K323E) was found. A combined liver and kidney transplantation (CLKT) was performed in March 2009, since there was not any therapy for complement inhibition in these patients. Kidney and liver functions normalized in the first two weeks, and the C3/C4 ratio immediately after transplantation, indicating that the C3 activation has been corrected. After remaining stable for 4 years, the patient suffered a B-cell non-Hodgkin lymphoma that was cured by chemotherapy and reduction of immunosuppressive drugs. Signs of liver rejection with cholangitis were observed a few months later, and a second liver graft was done 11 years after the CLKT. One year later, the patient maintains normal kidney and liver functions, also C3 and C4 levels are within the normal range. The 12-year follow-up of the patient reveals that, in spite of severe complications, CLKT was an acceptable therapeutic option for this aHUS patient.
Topics: Atypical Hemolytic Uremic Syndrome; Complement Factor B; Gain of Function Mutation; Humans; Infant; Kidney Transplantation; Liver Transplantation; Male
PubMed: 34721423
DOI: 10.3389/fimmu.2021.751093