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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 -
Indian Journal of Dermatology 2022Cutaneous manifestations of coronavirus disease 2019 (COVID-19) range from mild skin rashes to severe vasculitis. In the current study, we evaluated the demographic...
BACKGROUND
Cutaneous manifestations of coronavirus disease 2019 (COVID-19) range from mild skin rashes to severe vasculitis. In the current study, we evaluated the demographic characteristics of the patients with cutaneous vasculitis following COVID-19 infection.
MATERIALS AND METHODS
In the current study, we evaluated 799 hospitalised patients with COVID-19 infection for development of cutaneous vasculitis. Demographic and clinical characteristics of the patients were obtained using questionnaires and patients' records. Cutaneous vasculitis of the suspected patients were confirmed using skin biopsy and direct immunofluorescence.
RESULTS
We detected 24 hospitalised cases with cutaneous vasculitis presenting with petechia, purpura, livedoretcularis and acrocyanosis. Our data showed a significant relationship between male sex, advanced age, C-reactive protein (CRP) level and presence of comorbidities with development of cutaneous vasculitis. In addition, we found a positive association between the severity of COVID-19 infection and occurrence of cutaneous vasculitis.
CONCLUSION
Our findings are suggestive that clinicians must be aware of cutaneous vasculitis risk as prognostic value in the patients with severe COVID-19 infection.
PubMed: 36578723
DOI: 10.4103/ijd.ijd_13_22 -
Clinical and Experimental Dermatology Feb 2022Acute pseudoperniosis (PP) has a recognized association with COVID-19 and tends to occur without cold precipitation in young, healthy patients, often without a clear...
BACKGROUND
Acute pseudoperniosis (PP) has a recognized association with COVID-19 and tends to occur without cold precipitation in young, healthy patients, often without a clear history of COVID-19. These lesions usually resolve within 2 weeks and without long-term sequelae. In the early months of 2021, patients with delayed and protracted PP began to emerge. We have called this presentation 'tardive COVID-19 PP (TCPP)'.
AIM
To consolidate and expand knowledge on TCPP, we describe the clinical characteristics, treatments and outcomes of 16 patients with TCPP who were reviewed by our outpatient dermatology service.
RESULTS
The initial clinical manifestations were erythema, swelling and PP of the fingers in 56.2%, and of the toes in 31.2%, desquamation in 56.2% and acrocyanosis in 12.5%. Ten patients had eventual involvement of all acral sites. The median duration of symptoms was 191 days. Six patients reported close contact with a confirmed or suspected case of COVID-19, but only two had positive COVID-19 tests. Four patients experienced complete or almost complete resolution of symptoms, while the rest remain under active treatment.
CONCLUSION
Unlike acute PP, TCPP has a protracted and delayed presentation that is typically associated with profound acrocyanosis. Patients with TCPP represent a new phenomenon that is part of the post-COVID-19 syndrome, with risk factors and pathophysiology that are not yet fully understood. Our data indicate that likely predisposing factors for developing TCPP include young age, a preceding history of cold intolerance and an arachnodactyloid phenotype. Anorexia, connective tissue disorders or sickle cell trait may also predispose to TCPP. In addition, low titre antinuclear antibody positivity, the presence of cryoglobulins, or low complement levels may represent further risk factors. Finally, prolonged low temperatures are also likely to be contributing to the symptoms.
Topics: Acute Disease; Adolescent; Adult; Aged; COVID-19; Chilblains; Cohort Studies; Female; Foot Dermatoses; Hand Dermatoses; Humans; Male; Middle Aged; Time Factors; Young Adult; Post-Acute COVID-19 Syndrome
PubMed: 34411313
DOI: 10.1111/ced.14891 -
Biomedical Papers of the Medical... Mar 2021Raynaud's phenomenon (RP) is a relatively common disease. There are two distinct forms of RP - primary (PRP), where no other associated diseases are present, and...
AIMS
Raynaud's phenomenon (RP) is a relatively common disease. There are two distinct forms of RP - primary (PRP), where no other associated diseases are present, and secondary (SRP), where RP is associated with other diseases. It can be challenging to differentiate between RP and other diseases through medical history alone, due to the episodic nature of RP. Objective analysis of anamnestic data was performed in our study using infrared thermography (IRT) and a cold pressor test (CPT). Capillaroscopy was performed to assess morphological changes in the acral circulation.
METHODS
Patients with a history of cold hands were included in the study. IRT was performed before and after the CPT, and then capillaroscopy was performed. The results (including epidemiologic data) were statistically evaluated.
RESULTS
A total of 150 patients were included in the study. Summarisation of the results from the IRT and capillaroscopy determined the final diagnosis - 4.7% acrocyanosis, 10.7% physiologic findings, 31.3% PRP, 29.3% borderline SRP and 24% SRP. The coldest fingers following the CPT were, in most patients, the 2 and 3 fingers. The correlation between the presence of connective tissue disease and the diagnosis of borderline SRP and SRP was significant (P=0.0001).
CONCLUSIONS
Using the combination of the IRT and capillaroscopy in the diagnostic algorithm for RP has its justification. IRT distinguishes healthy patients from patients with RP, and capillaroscopy can then be used to differentiate PRP from SRP. IRT can also detect which fingers are more affected, and then these can direct the focus of capillaroscopy.
Topics: Adult; Female; Humans; Infrared Rays; Male; Microscopic Angioscopy; Middle Aged; Raynaud Disease; Thermography
PubMed: 32686771
DOI: 10.5507/bp.2020.031 -
British Journal of Clinical Pharmacology Apr 2021We report the case of an 82-year old male patient admitted in our medical intensive care unit for diffuse skin lesions, 3 days after the onset of ceftriaxone for...
We report the case of an 82-year old male patient admitted in our medical intensive care unit for diffuse skin lesions, 3 days after the onset of ceftriaxone for bilateral pneumonia without microbiological documentation. The patient concomitantly exhibited diffuse skin lesions compatible with livedo and neurological and haemodynamic failure. Biological analysis revealed acute haemolytic anaemia. Warming of patient, red blood-cells transfusion and high-doses corticosteroids were initiated and ceftriaxone was stopped. Despite these therapeutics, the patient exhibited multiple organ failure and died. The main suspected triggering factor of this acute and fatal haemolytic anaemia was ceftriaxone administration considering: (i) the delay between cephalosporin administration and symptoms; (ii) the worsening of livedo and acrocyanosis a few hours after meningeal ceftriaxone doses; and (iii) fatal evolution. Cephalosporin-induced autoimmune haemolytic anaemia is a rare and serious cause of livedo that should be suspected in patients exhibiting livedo and acute haemolytic anaemia within hours/days following cephalosporin administration.
Topics: Aged, 80 and over; Anemia, Hemolytic; Anemia, Hemolytic, Autoimmune; Ceftriaxone; Cephalosporins; Hemolysis; Humans; Male
PubMed: 33075171
DOI: 10.1111/bcp.14612 -
Acta Dermato-venereologica Dec 2021Numerous cases of chilblains have been observed in the course if the COVID-19 pandemic. The aims of this study were to provide comprehensive follow-up data for patients...
Numerous cases of chilblains have been observed in the course if the COVID-19 pandemic. The aims of this study were to provide comprehensive follow-up data for patients reporting chilblains, and to determine the risk factors for incomplete recovery. Patients referred to 5 hospitals in France between March and May 2020 for chilblains were surveyed on December 2020. A teleconsultation was offered. Among 82 patients reporting chilblains, 27 (33%) reported complete recovery, 33 (40%) had recurrences of chilblains after their hands and feet had returned to normal, and 22 (27%) developed persistent acral manifestations, mostly acrocyanosis, with or without further recurrences of chilblains. Most recurrences of chilblains occurred during the following autumn and winter. A past history of chilblains was not associated with recurrences or persistent acral manifestations. Women had a significantly higher risk of developing recurrences or persistent acral manifestations (odds ratio 1.30; 95% confidence interval 1.06-1.59). In conclusion, two-thirds of patients reporting chilblains at the start of the COVID-19 pandemic experienced persistent or recurrent acral manifestations after a 10-month follow-up.
Topics: Biopsy; COVID-19; Chilblains; Female; Humans; Pandemics; SARS-CoV-2
PubMed: 34515805
DOI: 10.2340/00015555-3930 -
Blood Nov 2021
Topics: Adenine; Agammaglobulinaemia Tyrosine Kinase; Aged; Aged, 80 and over; Anemia, Hemolytic, Autoimmune; Cyanosis; Female; Humans; Male; Middle Aged; Piperidines; Protein Kinase Inhibitors; Retrospective Studies
PubMed: 34293088
DOI: 10.1182/blood.2021012039 -
Indian Journal of Pharmacology 2016A 77-year-old male patient developed acrocyanosis and pain after treatment with amphotericin B liposome 150 mg daily intravenously for disseminated histoplasmosis, and...
A 77-year-old male patient developed acrocyanosis and pain after treatment with amphotericin B liposome 150 mg daily intravenously for disseminated histoplasmosis, and subsequently developed elevated serum creatinine. Amphotericin B liposome was discontinued, and anisodamine was used intravenously to treat acrocyanosis and pain induced by amphotericin B liposome for 9 days and patient was cured. Naranjo adverse drug reaction probability scale score was 5, the World Health Organization-Uppsala Monitoring Centre criteria: Probable, indicating a probable adverse reaction to amphotericin B liposome.
Topics: Aged; Amphotericin B; Creatinine; Humans; Liposomes; Male
PubMed: 27298506
DOI: 10.4103/0253-7613.182889 -
Proceedings of the Royal Society of... 1926
PubMed: 19984953
DOI: No ID Found -
Proceedings of the Royal Society of... Feb 1927
PubMed: 19985530
DOI: No ID Found