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Clinical, Cosmetic and Investigational... 2024Systemic sclerosis (SSc) is a relatively rare collagenosis manifested as microvasculopathy, excessive cutaneous and visceral fibrosis in a background of autoimmune...
PURPOSE
Systemic sclerosis (SSc) is a relatively rare collagenosis manifested as microvasculopathy, excessive cutaneous and visceral fibrosis in a background of autoimmune alteration. Autoimmune vasculopathy in SSc occurs early and begins with endothelial cell activation followed by blood vessel intimal proliferation in a context of defective angiogenesis. The alteration of peripheral micro and macrocirculation in SSc is evident through vascular lesions, such as Raynaud's phenomenon, telangiectasias, acrocyanosis, digital ulcers, gangrene, peripheral pulse deficiency. Our paper details the results of the study on the association between telangiectasias and other types of immune-mediated peripheral vascular lesions that can be identified in SSc. The presence of these peripheral vascular lesions can provide information about the magnitude of the peripheral vasculopathy.
PATIENTS AND METHODS
A total of 37 patients diagnosed with SSc, recruited from a university clinic in Bucharest between February 2019 and March 2020, were enrolled in an observational study. We evaluated the presence of telangiectasias, as a stigma of autoimmune microvasculopathy, and their association with other immune-mediated peripheral vascular lesions that may be present in SSc.
RESULTS
The presence of telangiectasias was identified in the absence, but especially in the presence of acrocyanosis and digital ulcerations, and patients with peripheral pulse deficiency almost always had telangiectasias. Less than a quarter of the patients with digital ulcers progressed unfavorably to gangrene, and only one required amputation, telangiectasias being present not only in the patient with amputation but in all patients with gangrene.
CONCLUSION
We appreciate that telangiectasias may be the clinical expression of peripheral vasculopathy characteristic of SSc, they can often be present in association with other peripheral vascular lesions and may represent a valuable indicator for the gangrene risk of digital ulcerations in SSc.
PubMed: 38292323
DOI: 10.2147/CCID.S432422 -
Iranian Journal of Child Neurology 2017Ethylmalonic encephalopathy (EE) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive...
Ethylmalonic encephalopathy (EE) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs, and vascular lesions including petechial purpura, orthostatic acrocyanosis, and chronic hemorrhagic diarrhea. Biochemical hallmarks of the disease are persistently high level of lactate, and C4-C5-acylcarnitines in blood, markedly elevated urinary excretion of methylsuccinic and ethylmalonic (EMA) acids. Here we report two patients with EE as a 16-months-old male infant and a 2-yr-old boy referred to Pediatric Neurology Clinic in Children's Medical Center, Tehran-Iran that in one patient genetic analysis revealed a homozygous mutation of the ETHE1 gene in favor of ethylmalonic acidemia.
PubMed: 28698729
DOI: No ID Found -
JAMA Dermatology Feb 2021Chilblain-like lesions have been reported during the coronavirus 2019 (COVID-19) pandemic. The pathophysiology of such manifestations remains largely unknown.
IMPORTANCE
Chilblain-like lesions have been reported during the coronavirus 2019 (COVID-19) pandemic. The pathophysiology of such manifestations remains largely unknown.
OBJECTIVE
To perform a systematic clinical, histologic, and biologic assessment in a cohort of patients with chilblain-like lesions occurring during the COVID-19 pandemic.
DESIGN, SETTING, AND PARTICIPANTS
In this prospective case series carried out with a COVID-19 multidisciplinary consultation group at the University Hospital of Nice, France, 40 consecutive patients presenting with chilblain-like lesions were included.
MAIN OUTCOMES AND MEASURES
Patients underwent a thorough general and dermatologic examination, including skin biopsies, vascular investigations, biologic analyses, interferon-alpha (IFN-α) stimulation and detection, and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) polymerase chain reaction (PCR) and serologic analysis.
RESULTS
Overall, 40 consecutive patients with chilblain-like lesions were included. Most patients were young, with a median (range) age of 22 (12-67) years; 19 were male and 21 were female. The clinical presentation was highly reproducible with chilblain-like lesions mostly on the toes. Bullous and necrotic evolution was observed in 11 patients. Acrocyanosis or cold toes were reported in 19 (47.5%) cases. Criteria compatible with COVID-19 cases were noted in 11 (27.5%) within 6 weeks prior to the eruption. The real-time PCR (rt-PCR) testing results were negative in all cases. Overall, SARS-CoV-2 serology results were positive in 12 patients (30%). D-dimer concentration levels were elevated in 24 (60.0%) cases. Cryoglobulinemia and parvovirus B19 serologic results were negative for all tested patients. The major histologic findings were features of lymphocytic inflammation and vascular damage with thickening of venule walls and pericyte hyperplasia. A significant increase of IFN-α production after in vitro stimulation was observed in the chilblain population compared with patients with mild-severe acute COVID-19.
CONCLUSIONS AND RELEVANCE
Taken together, our results suggest that chilblain-like lesions observed during the COVID-19 pandemic represent manifestations of a viral-induced type I interferonopathy.
TRIAL REGISTRATION
ClinicalTrials.gov Identifier: NCT04344119.
Topics: Adolescent; Adult; Aged; COVID-19; Chilblains; Child; Female; Humans; Interferon-alpha; Male; Middle Aged; Prospective Studies; Young Adult
PubMed: 33237291
DOI: 10.1001/jamadermatol.2020.4324 -
Case Reports in Vascular Medicine 2020Myeloproliferative neoplasms are a heterogeneous group of disorders resulting from the abnormal proliferation of one or more terminal myeloid cells-established...
BACKGROUND
Myeloproliferative neoplasms are a heterogeneous group of disorders resulting from the abnormal proliferation of one or more terminal myeloid cells-established complications include thrombosis and haemorrhagic events; however, there is limited evidence to suggest an association with arterial hypertension. Herein, we report two independent cases of severe hypertension in JAK2 mutation-positive myeloproliferative neoplasms. . Case 1: a 39-year-old male was referred to our specialist hypertension unit with high blood pressure (BP) (200/120 mmHg), erythromelalgia, and headaches. We recorded elevated serum creatinine levels (146 M) and panmyelosis. Bone marrow biopsy confirmed JAK2-mutation-positive polycythaemia vera. Renal imaging revealed renal artery stenosis. Aspirin, long-acting nifedipine, interferon-alpha 2A, and renal artery angioplasty were employed in management. BP reached below target levels to an average of 119/88 mmHg. Renal parameters normalised gradually alongside BP. Case 2: a 45-year-old male presented with high BP (208/131 mmHg), acrocyanosis, (vasculitic) skin rashes, and nonhealing ulcers. Fundoscopy showed optic disc blurring in the left eye and full blood count revealed thrombocytosis. Bone marrow biopsy confirmed JAK2-mutation-positive essential thrombocytosis. No renal artery stenosis was found. Cardiac output was measured at 5 L/min using an inert gas rebreathing method, providing an estimated peripheral vascular resistance of 1840 dynes/s/cm. BP was well-controlled (reaching 130/70 mmHg) with CCBs.
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.
PubMed: 33505762
DOI: 10.1155/2020/8887423 -
JSLS : Journal of the Society of... 1998Vasospastic disorders (acrocyanosis, Raynaud's syndrome, causalgia) can arise from different etiologic factors, but the pathogenesis is always represented by an altered... (Clinical Trial)
Clinical Trial
BACKGROUND
Vasospastic disorders (acrocyanosis, Raynaud's syndrome, causalgia) can arise from different etiologic factors, but the pathogenesis is always represented by an altered mechanism of vasal motility. Upper dorsal sympathectomy has been demonstrated to be an effective treatment for these disorders by decreasing peripheral resistances. Surgical technique has shown long-lasting results, and it can now be performed by endoscopic approach.
METHODS
Our experience with six cases of sympathectomy is illustrated. The indications, thoracoscopic technique, complications and long-term results are evaluated. Four women with Raynaud's syndrome and two men with causalgia were treated in this series. After an accurate preoperative evaluation, the second, third, fourth and fifth thoracic ganglia of the sympathetic chain were identified and excised.
RESULTS
All patients experienced relief of symptoms with very limited pain and discomfort. They did not require further medical therapy and are relapse-free at follow-up.
CONCLUSIONS
We conclude that thoracoscopic sympathectomy can be considered an effective, safe and simple treatment for selected cases of vasospastic phenomenon.
Topics: Adult; Causalgia; Cyanosis; Female; Follow-Up Studies; Humans; Laparoscopy; Male; Raynaud Disease; Sympathectomy; Thoracoscopy; Treatment Outcome; Vascular Diseases; Vasoconstriction
PubMed: 9876748
DOI: No ID Found -
Indian Dermatology Online Journal Apr 2014
PubMed: 24860770
DOI: 10.4103/2229-5178.131139 -
American Journal of Cardiovascular... 2023Sarcoidosis and systemic sclerosis are two inflammatory multisystemic disorders of unknown etiology that may be life-threatening especially when there is cardiac...
Sarcoidosis and systemic sclerosis are two inflammatory multisystemic disorders of unknown etiology that may be life-threatening especially when there is cardiac involvement. Both diseases may coexist, however, there are very few case reports of patients with both cardiac sarcoidosis and systemic sclerosis in the literature. We report the case of a 72-year-old female who was initially referred for dyspnea. A chest computed tomography scan showed multiple hilar and mediastinal adenopathy with a non-specific opacity in the middle pulmonary lobe. FDG-PET-scan showed increased FDG uptake in the adenopathy, the middle lobe and the right ventricular free wall. Sarcoidosis was confirmed with a lung biopsy. Both electrocardiogram and echocardiogram were normal. Four months later, the patient developed a high-grade atrioventricular block deemed secondary to her cardiac sarcoidosis. Two years later, the patient was referred to a rheumatologist for severe Raynaud's symptoms, sclerodactyly and acrocyanosis. After thorough investigations, a diagnosis of limited cutaneous systemic sclerosis with systemic and cardiac sarcoidosis was made. This case demonstrates that both cardiac sarcoidosis and systemic sclerosis may coexist. In the literature, either disease may come first. In cases where cardiac symptoms appear after the diagnosis of concomitant sarcoidosis and systemic sclerosis, it might be difficult for clinicians to confirm which disease is responsible for the heart involvement. This is important since early cardiac sarcoidosis treatment should be done to prevent major complications and may well differ from systemic sclerosis treatment. In this review, we discuss the main clinical manifestations and imaging findings seen with cardiac disease secondary to sarcoidosis and systemic sclerosis.
PubMed: 37736350
DOI: No ID Found -
Seminars in Plastic Surgery May 2014Infantile hemangiomas (IH) are common benign vascular tumors seen in children. Although the majority will improve spontaneously without treatment, a small subset will...
Infantile hemangiomas (IH) are common benign vascular tumors seen in children. Although the majority will improve spontaneously without treatment, a small subset will require therapy due to a variety of complications. Less than a decade ago, propranolol replaced corticosteroids as first-line treatment for most IH and it has proven to be a relatively safe, effective therapy. After initiation of propranolol, most hemangiomas show evidence of significant improvement relatively rapidly, often within days. Although propranolol is generally felt to have a more limited side-effect profile than systemic corticosteroids, its use has been infrequently associated with adverse events, including sleep disturbances, acrocyanosis, hypotension, bradycardia, respiratory events, and hypoglycemia. Rarely, hypoglycemic seizures have been reported, usually occurring in the setting of prolonged fasting.
PubMed: 25045334
DOI: 10.1055/s-0034-1376259 -
Actas Dermo-sifiliograficas Nov 2013Oxalosis is a disease caused by the deposition of calcium oxalate in extrarenal tissues, most commonly bone, myocardium, retina, blood vessels, and skin, causing the...
Oxalosis is a disease caused by the deposition of calcium oxalate in extrarenal tissues, most commonly bone, myocardium, retina, blood vessels, and skin, causing the clinical manifestations of the disease. Involvement of the blood vessels of the skin can give rise to livedo reticularis, acrocyanosis, ulcers, and gangrene. We present the case of a 60-year-old woman with a history of recurrent renal lithiasis that had led to terminal renal failure requiring hemodialysis and, subsequently, peritoneal dialysis. The patient developed tender red-violaceous skin discoloration of sudden onset, consistent with livedo reticularis; the lesions progressed to form ulcers. Skin biopsy revealed oxalate vasculopathy. In this article we describe the characteristics of this rare disorder, its differentiation from calciphylaxis, and the therapeutic options.
Topics: Female; Humans; Hyperoxaluria; Livedo Reticularis; Middle Aged
PubMed: 23103120
DOI: 10.1016/j.ad.2012.04.019 -
Taiwanese Journal of Obstetrics &... Nov 2020Symmetrical peripheral gangrene (SPG) is an uncommon but important clinical syndrome. We present a case of acute chorioamnionitis complicated with SPG.
OBJECTIVE
Symmetrical peripheral gangrene (SPG) is an uncommon but important clinical syndrome. We present a case of acute chorioamnionitis complicated with SPG.
CASE REPORT
A 33-year-old female (gravida 5, para 2) was admitted with preterm premature rupture of membranes (PPROM) at 20 weeks and four days of gestation. She received cervical cerclage four days ago. Seven days after the diagnosis of PPROM, she developed fever, tachypnea and tachycardia. Termination of pregnancy was decided for clinical diagnosis of sepsis. After the abortus was born, gangrene change on the nose was noticed. Afterwards, this patient developed acrocyanosis of extremities. SPG developed following sepsis with intravascular disseminated coagulation (DIC). After intensive care, the patient underwent hyperbaric oxygen therapy and fasciectomy of the left forearm.
CONCLUSION
We suggest awareness of SPG associated with acute chorioamnionitis. Early recognition of SPG, multidisciplinary care, and treatment of its underlying conditions are the mainstays of management.
Topics: Acute Disease; Adult; Cerclage, Cervical; Chorioamnionitis; Diagnosis, Differential; Disseminated Intravascular Coagulation; Female; Fetal Membranes, Premature Rupture; Foot; Gangrene; Humans; Medical Illustration; Pregnancy; Pregnancy Complications, Cardiovascular; Upper Extremity
PubMed: 33218425
DOI: 10.1016/j.tjog.2020.09.032