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Mediterranean Journal of Rheumatology Jun 2023Nakajo-Nishimura syndrome is a hereditary autoinflammatory disorder caused by an autosomal recessive homozygous mutation of the PSMB8 gene, which encodes the...
Nakajo-Nishimura syndrome is a hereditary autoinflammatory disorder caused by an autosomal recessive homozygous mutation of the PSMB8 gene, which encodes the immunoproteasome subunit beta 5i. The clinical manifestations of NNS are mainly pernio-like skin rashes, nodular erythema, lipodystrophy, clubbed fingers, remittent fever, hepatosplenomegaly, and basal ganglia calcifications. Here we are reporting a case of NNS in an 11-year-old girl, who lives in eastern Algeria, born from a first-degree consanguineous marriage, she presented with erythematous patches on her face and her back, nodular erythema on her neck, swollen and painful fingers with acrocyanosis and recurrent fever that mainly occurred in cold weather. The patient received long-term treatment with low-dose glucocorticoids, along with immunomodulatory drugs (hydroxychloroquine with methotrexate), partial improvement clinically and biologically was observed. Colchicine was added to her treatment, with increased prednisone doses when she recently developed an AA amyloidosis. Our patient was diagnosed clinically with a probable NNS because she exhibited six of the eight characteristics. To the best of our knowledge, this is the first case of NNS in Africa.
PubMed: 37654638
DOI: 10.31138/mjr.34.2.262 -
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 -
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 -
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 -
Cureus Feb 2024COVID-19 is known to cause various cutaneous lesions, including acro-ischemic lesions (AIL), which are associated with poor prognosis. Anticoagulant therapy has shown...
COVID-19 is known to cause various cutaneous lesions, including acro-ischemic lesions (AIL), which are associated with poor prognosis. Anticoagulant therapy has shown positive responses in AIL patients. However, in this case study, we present a fatal AIL case despite anticoagulant therapy. We propose different treatment approaches based on the limited current data on acro-ischemia pathogenesis related to SARS-CoV-2. The clinical case involved a 59-year-old male with severe COVID-19 symptoms, including acrocyanosis and right hemiparesis. Despite receiving anticoagulant therapy, the patient's condition worsened, leading to necrosis in the left foot. The discussion focuses on the high-risk nature of AIL, the potential link between angiotensin-converting enzyme 2 (ACE2) receptors and vasculitis or thromboembolic manifestations, and the role of immune clots in AIL pathogenesis. Behçet syndrome is referenced as a model of inflammation-induced thrombosis, guiding the suggestion for immunosuppressant-based treatment in addition to anticoagulants. Additionally, three substances, N-acetyl cysteine, sulodexide, and hydroxychloroquine, are proposed.
PubMed: 38465147
DOI: 10.7759/cureus.53798 -
SAGE Open Medical Case Reports 2023A female in her 60s presented to the allergy and immunology clinic for further investigation of ongoing dermatitis. She presented with chronic acrocyanosis, mainly in...
A female in her 60s presented to the allergy and immunology clinic for further investigation of ongoing dermatitis. She presented with chronic acrocyanosis, mainly in her left lower extremity, extending distally from her mid thigh with concurrent ulcerations in her foot resulting in immobility secondary to pain. She experienced these symptoms for years without a definitive diagnosis. The lack of diagnosis was due, in part, to her atypical symptoms and laboratory findings that required a high level of clinical suspicion to diagnose. Extensive autoimmune workup was largely unrevealing with the exception of a cold agglutinin titer of 1:250 and a positive anticomplement C3b direct antiglobulin test. A diagnosis of cold agglutinin disease was made and treatment with rituximab monotherapy was initiated.
PubMed: 37654547
DOI: 10.1177/2050313X231191899 -
Cureus Jan 2024Puffy hand syndrome occurs in addicts who have injected drugs either intravenously, intradermally, or subcutaneously. It usually presents as bilateral reversible pitting...
Puffy hand syndrome occurs in addicts who have injected drugs either intravenously, intradermally, or subcutaneously. It usually presents as bilateral reversible pitting edema of the hands; less frequently, it occurs unilaterally. The forearms and arms may also be affected. The onset of puffy hand syndrome can occur while the patient is still injecting drugs; however, it can initially appear several years after injection of the drug has been discontinued. Infection with hepatitis C is a common comorbidity. A 47-year-old man is described who had a 20-year history of injecting methylamphetamine only into his non-dominant left arm, forearm, and hand and experienced his second episode of unilateral puffy hand syndrome four years after discontinuing injecting the drug and three years after his initial episode; he also had hepatitis C infection. He presented with erythema and pitting edema of his left hand and forearm. Cellulitis was initially suspected, and he was admitted to the hospital for intravenous antibiotics; all cultures were negative for pathogens. The erythema and swelling resolved after five days of therapy. Puffy hand syndrome has been associated with various drugs; it has also been observed to occur in women during pregnancy and occasionally associated with acrocyanosis. The diagnosis is often not originally entertained by the clinician; the condition is often initially treated empirically as an infection. Serologic evaluation is typically negative for rheumatologic diseases, such as systemic lupus erythematosus and scleroderma, and cultures of the skin and blood are usually negative for pathogens. Radiologic assessment (such as roentgenograms, ultrasound to rule out venous thrombosis, computed tomography, magnetic resonance imaging, venogram, and lymphangiogram) may be performed, to exclude other conditions. Skin biopsy of the affected edematous hand occasionally demonstrates granulomatous inflammation and foreign bodies (suggestive of starch or injection additives) in the dermis. The edema for some of the patients with puffy hand syndrome was successfully treated with daily bandaging with compression stockings. The pathogenesis of puffy hand syndrome is considered to be multifactorial: damage to the veins, injury to the lymphatic system, and direct toxicity of the injectable drugs to the vascular structures.
PubMed: 38313922
DOI: 10.7759/cureus.51545 -
Cureus Nov 2023Polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, and skin changes (POEMS) syndrome is a rare multisystemic paraneoplastic disorder caused...
Polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, and skin changes (POEMS) syndrome is a rare multisystemic paraneoplastic disorder caused by an underlying plasma cell dyscrasia. Its diagnosis is based on the presence of two mandatory criteria and at least one major and one minor criterion. We report a case of a 52-year-old female patient who presented with complaints of acrocyanosis, night sweats, scaly skin, and swelling on the left side of the neck. She was a known case of hypothyroidism, antiphospholipid syndrome, and cerebral venous thrombosis, and had other comorbidities as well. She also exhibited weakness and paresthesia of the limbs and muscle wasting in the hands. All necessary examinations and investigations were performed and the patient was eventually diagnosed with POEMS syndrome. She underwent chemotherapy along with immunotherapy initially, but as the disease relapsed, she was referred for high-dose therapy (HDT) and autologous stem cell transplantation.
PubMed: 38143657
DOI: 10.7759/cureus.49330 -
Annals of Medicine and Surgery (2012) Feb 2024Essential thrombocythemia (ET) is a rare chronic myeloproliferative hematologic disorder, leading to an elevated platelet count. Two-thirds of patients are asymptomatic...
INTRODUCTION AND IMPORTANCE
Essential thrombocythemia (ET) is a rare chronic myeloproliferative hematologic disorder, leading to an elevated platelet count. Two-thirds of patients are asymptomatic during their lifetime, while others may experience symptoms like redness, congestion, and erythromelalgia after long symptom-free intervals.
CASE PRESENTATION
The authors present a rare instance of a 55-year-old female who, despite receiving aspirin and losartan treatment, eventually developed digital gangrene. In further work-ups, she had an elevated platelet count and a positive JAK 2 mutation. Her platelet count was reduced throughout treatment with aspirin, hydroxyurea, and heparin, which was followed by the necrotic tip of her index finger being surgically debrided.
CLINICAL DISCUSSION
Significant symptoms, such as severe acrocyanosis and even peripheral gangrene, can be treated with a single dose of aspirin. Daily aspirin consumption withstanding, this case developed the severe form of ET. In addition, while thrombocytosis predisposes patients to thrombotic complications in theory, there is little evidence to support a correlation between absolute platelet count and thrombosis.
CONCLUSION
The initial symptom of ET could be such severe and uncommon that may develop arterial acral thrombosis despite previous daily low-dose aspirin consumption.
PubMed: 38333237
DOI: 10.1097/MS9.0000000000001671 -
BMC Pediatrics Dec 2023Coronavirus Disease 2019 (COVID-19) is a novel respiratory disease that first emerged in 2019. Patients infected with this disease present with a myriad of symptoms....
BACKGROUND
Coronavirus Disease 2019 (COVID-19) is a novel respiratory disease that first emerged in 2019. Patients infected with this disease present with a myriad of symptoms. Limb ischemia and hypercoagulability are complications identified in adults. COVID-19-related vasculitis is a known but seldom reported complication in pediatric patients, and the treatment approach is still not well established.
CASE PRESENTATION
We report the case of a healthy four-year-old female with a history of COVID-19 who developed acute lower limb ischemia. This was initially treated as a case of acute snake envenomation by administering snake antivenom with no improvement. She eventually developed lower limb acrocyanosis with an inability to ambulate. The patient was started on interleukin-6 receptor inhibitors (tocilizumab), anticoagulants, and pulse steroid therapy. The patient had complete resolution with the loss of only one toe.
CONCLUSION
Identification of thromboembolic complications in pediatric patients with no comorbidities and a history of COVID-19 can be difficult. Early recognition and treatment have a major impact on morbidity and can increase the likelihood of limb salvage.
Topics: Child, Preschool; Female; Humans; Anticoagulants; COVID-19; Ischemia; Lower Extremity; Treatment Outcome
PubMed: 38066489
DOI: 10.1186/s12887-023-04454-8