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BACKGROUND: Sneddon syndrome is an occlusive vasculopathy that presents clinically with generalized livedo racemosa on the skin and transient ischemic attacks, strokes, and cognitive or motor deficits in the central nervous system. Antiplatelet or anticoagulant therapy is recommended. Due to the limited therapeutic efficacy and the resulting serious complications, we propose combination therapy with additional infusion cycles of alprostadil and captopril and report initial long-term results. PATIENTS AND METHODS: We performed a systematic retrospective analysis of all patients with primary Sneddon syndrome who received combination therapy in our clinic between 1995 and 2020. Therapeutic outcomes were evaluated using descriptive statistics compared to historical controls receiving monotherapy. We also analyzed the event rate of complications when combination therapy was discontinued. RESULTS: During the 99.7 patient-years of follow-up, there were no transient ischemic attacks and the stroke rate dropped to 0.02 per patient-year. In comparison, the rates of transient ischemic attacks and strokes in the historical controls ranged from 0.08 to 0.035 per patient-year. After discontinuation of alprostadil therapy, eight events occurred in three patients. CONCLUSIONS: Combination therapy reduces the long-term incidence of ischemic events in patients with primary Sneddon syndrome.
Subject(s)
Alprostadil , Drug Therapy, Combination , Sneddon Syndrome , Humans , Female , Retrospective Studies , Male , Sneddon Syndrome/epidemiology , Sneddon Syndrome/drug therapy , Middle Aged , Adult , Incidence , Alprostadil/therapeutic use , Alprostadil/administration & dosage , Ischemic Attack, Transient/epidemiology , Ischemic Attack, Transient/prevention & control , Ischemic Attack, Transient/drug therapy , Treatment Outcome , Cerebrovascular Disorders/epidemiology , Stroke/epidemiology , Stroke/prevention & control , Vasodilator Agents/therapeutic use , Vasodilator Agents/administration & dosage , AgedABSTRACT
Sneddon syndrome, also known as livedo reticularis with cerebrovascular accidents, is a rare but chronic condition that affects blood vessels in the skin and brain. This syndrome is characterized by a net-like appearance on the skin, known as livedo reticularis, which occurs due to the constriction of blood vessels. In addition to skin manifestations, Sneddon syndrome is often associated with repeated neurological events, such as strokes or transient ischemic attacks. These neurological symptoms can vary in severity and can lead to various complications. Upon admission to the stroke unit, a 28-year-old female was found to have bilateral livedo reticularis affecting the soles and the dorsal sides of the hands. Patient evaluation is done through medical history, physical examination, routine laboratory tests, and other diagnostic procedures.
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Nicolau syndrome is a rare adverse reaction that can occur in the setting of intramuscular, intravenous, and subcutaneous injections. Proper diagnosis and management are critical to avoid complications including abscesses, muscular atrophy, and necrotizing fasciitis. Here, we report a 55-year-old female with multiple sclerosis who presented to our clinic following a subcutaneous injection of 40mg of glatiramer. She immediately noted a sharp pain and erythema, which developed into a purple discoloration, became purulent, and eventually necrosed. The patient's wound was debrided, and she was advised to clean the wound with soap and water, apply topical mupirocin, and change dressings twice daily. She continued to receive appropriate follow-up care with weekly to bi-weekly debridement with excellent resolution.
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Livedo reticularis (LR) is a unique cutaneous condition characterized by a reddish-blue to purple, net-like cyanosis of the skin, often associated with disturbances in cutaneous blood flow. This case report discusses a 30-year-old woman with a history of Hashimoto thyroiditis, vitamin D deficiency, migraines, and goiter who presents with painful, localized LR on her right flank. Despite her extensive medical history, there were no significant findings in her laboratory and imaging studies, including a normal epidermis in skin biopsies. The LR in this case is distinguished by its persistence and the presence of pain, a symptom not commonly associated with LR. Various treatments, including 5% lidocaine ointment, oral analgesics, and gabapentin, were considered, but her symptoms remained stable over 13 months. This case exemplifies the complexity of LR, particularly when presenting with atypical symptoms like pain. It highlights the need for further research into the pathophysiology and treatment of LR, especially in cases deviating from the typical symptomatology, and suggests the potential value of a multi-disciplinary approach to management.
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OBJECTIVE: Through a case of deficiency of adenosine deaminase 2 (DADA2) to improve domestic clinicians' understanding of the disease, and to review the literature, promote dermatologists for clinical secondary primary lesion diagnosis. METHOD: Analysis of a case diagnosed with DADA2 deficiency of clinical manifestations, laboratory, imaging examination and treatment methods, and discussion through literature analysis. RESULTS: The child with recurrent fever, limbs nodular erythema, gradually in the limbs. CT of lower limb skin showed mild edema of the spinous layer, intact basal layer, dilated vascular congestion in the superficial dermis, visible RBC extravasation, and changes of telangiectasia ring purpura were considered. Cranial magnetic resonance imaging (MRI) showed a left choroidal cleft cyst. Genetic test was the CECR1 mutation. The treatment with adalimumab was effective. CONCLUSION: In this case, DADA2 is the seventh case in China, and the CECR1 mutation site (c.254A> T p.N85I,c.851G>T p. G284V) was a compound heterozygous mutation. Mastering the clinical characteristics is helpful for clinicians to diagnose this disease.
Subject(s)
Adenosine Deaminase , Severe Combined Immunodeficiency , Child , Humans , Adenosine Deaminase/genetics , Intercellular Signaling Peptides and Proteins , Severe Combined Immunodeficiency/diagnosis , Severe Combined Immunodeficiency/genetics , MutationABSTRACT
Autoinflammatory diseases (AIDs) characterized by recurrent episodes of localized or systemic inflammation are disorders of the innate immune system. Skin lesions are commonly found in AIDs and cutaneous vasculitis can coexist with AIDs and even present as the most striking feature. This review aims to focus on the frequent cutaneous vasculitis association in three monogenic AIDs including familial Mediterranean fever (FMF), deficiency of adenosine deaminase type 2 (DADA2), and the recently identified adult-onset VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Cutaneous vasculitis in FMF is characterized by: (1) small-vessel vasculitis similar to IgA vasculitis with palpable purpura but increased intussusception complication and less vascular IgA deposit, and (2) cutaneous arteritis-like vasculitis presenting as subcutaneous nodules most often with higher glomerular involvement. DADA2 has a wide spectrum of clinical presentations ranging from fatal systemic vasculitis with multiple strokes, especially in pediatric patients, to limited cutaneous disease in middle-aged patients. DADA2 shares similar clinical and histopathological features with polyarteritis nodosa (PAN). As a result, DADA2 is commonly initially misdiagnosed as childhood PAN. Livedo racemosa reveals the most common cutaneous manifestation of cutaneous vasculitis in patients with DADA2. VEXAS syndrome is a life-threatening disease. A diagnosis of VEXAS syndrome should be strongly considered or could be made in patients with skin lesions characterized by Sweet syndrome-like eruption, livedo racemosa, concomitant relapsing polychondritis, deep venous thrombosis, pulmonary involvement, and progressive hematologic abnormalities such as myelodysplastic syndrome with a unique finding of cytoplasmic vacuoles in myeloid and erythroid precursor cells from bone marrow aspirate smear. As skin involvement is common in AIDs and may present as the most frequent manifestation, especially in DADA2 (70% to 90%) and VEXAS syndrome (83% to 91%), dermatologists play a crucial role in contributing to the early diagnosis of these AIDs with early initiation of the appropriate therapy to avoid progressing fatal outcomes.
Subject(s)
Agammaglobulinemia , Familial Mediterranean Fever , Livedo Reticularis , Myelodysplastic Syndromes , Polyarteritis Nodosa , Severe Combined Immunodeficiency , Skin Diseases, Genetic , Skin Diseases , Vasculitis , Adult , Humans , Child , Middle Aged , Adenosine Deaminase/genetics , Livedo Reticularis/complications , Intercellular Signaling Peptides and Proteins , Vasculitis/diagnosis , Vasculitis/etiology , Polyarteritis Nodosa/complications , Polyarteritis Nodosa/diagnosis , Skin Diseases/diagnosis , Skin Diseases/etiology , Familial Mediterranean Fever/diagnosis , MutationABSTRACT
OBJECTIVE: We sought to characterise the clinical picture of Martorell hypertensive ischaemic leg ulcer (HYTILU) by describing the ulcer borders with three clinical features: 'the red lipstick sign'; purple border; and livedo racemosa. We also aimed to characterise comorbidities and determinants of healing time. METHOD: A single-centre, retrospective cohort study was conducted between 2015-2020. We scrutinised ulcer photographs for relevant clinical signs. Data on comorbidities, medication and ulcer treatments, as well as method of diagnosis and healing time, were collected from patients' electronic medical records. RESULTS: In total, 38 female patients and 31 male patients (mean age 73 years) were assessed, with a mean follow-up time of 174 days. The 'red lipstick-like' margin covered 0-50% of the ulcer margin in 56.5% of the ulcers, and 51-100% of the ulcer margin in 43.5% of the ulcers. Purple border or livedo racemosa was observed in 70.5% of the ulcers. All patients had hypertension and 52.2% of patients had type 2 diabetes. A heavy cardiovascular disease burden and frequent concomitant vascular pathologies were found. Infections requiring systemic antibiotics, ulcer size and duration of symptoms before diagnosis were strongly associated with healing time. We also found that use of systemic corticosteroids and severity of hypertension (measured by the number of antihypertensive medications used) delayed healing. CONCLUSION: Our data suggest that 'the red lipstick sign' could be a novel diagnostic feature in HYTILUs alongside purple border, livedo racemosa and necrotic/fibrinous ulcer bed. The results also elucidated HYTILU comorbidities, and showed that infections and delay in diagnosis impeded healing.
Subject(s)
Diabetes Mellitus, Type 2 , Hypertension , Leg Ulcer , Livedo Reticularis , Varicose Ulcer , Humans , Male , Female , Aged , Ulcer , Retrospective Studies , Diabetes Mellitus, Type 2/complications , Livedo Reticularis/complications , Leg Ulcer/therapy , Hypertension/complications , Hypertension/epidemiology , Ischemia/complications , Varicose Ulcer/complicationsABSTRACT
BACKGROUND: This report delves into the diagnostic and therapeutic journey undertaken by a patient with Sneddon's syndrome (SS) and cerebral venous sinus thrombosis (CVST). Particular emphasis is placed on the comprehensive elucidation of SS's clinical manifestations, the intricate path to diagnosis, and the exploration of potential underlying mechanisms. CASE SUMMARY: A 26-year-old woman presented with recurrent episodes of paroxysmal unilateral limb weakness accompanied by skin mottling, seizures, and cognitive impairment. Digital subtraction angiography revealed CVST. Despite negative antiphospholipid antibody results, skin biopsy indicated chronic inflammatory cell infiltration. The patient was treated using anticoagulation, antiepileptic therapy, and supportive care, which resulted in symptom improvement. The coexistence of SS and CVST is rare and the underlying pathophysiology remains uncertain. This case underscores the challenge in diagnosis and highlights the need for early clinical differentiation to facilitate accurate assessment and prompt intervention. CONCLUSION: This article has reported and analyzed the clinical data, diagnosis, treatment, and prognosis of a case of SS with CVST and reviewed the relevant literature to improve the clinical understanding of this rare condition.
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Key Clinical Message: The diagnosis of Sneddon Syndrome should be considered in adults with young-onset dementia accompanied by neuropsychiatric signs and livedo racemosa. Magnetic resonance imaging and cerebral angiography are essential. A cutaneous biopsy may help in the diagnosis. Abstract: Sneddon syndrome (SS) is a clinical entity corresponding to a noninflammatory thrombotic vasculopathy that typically includes livedo racemosa and cerebrovascular ischemia. Psychiatric symptoms with cognitive impairment often occur but are rarely the inaugural symptoms. We present a case of secondary SS in a 45-year-old man in whom dementia and psychosis revealed the disease.
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OBJECTIVE: The aim of this study is to evaluate the clinical, laboratory, and radiological findings and prognosis of patients with adenosine deaminase 2 deficiency (DADA2) and to highlight the conditions that DADA2 should be considered in the differential diagnosis in patients with neurological findings. METHODS: A case series of six DADA2 patients was presented in this retrospective, descriptive study. Clinical and laboratory data, treatment protocols, and prognosis of the patients were recorded. A diagnosis of DADA2 was established by ADA2 enzyme activity assay and/or ADA2 gene sequencing. RESULTS: Six patients with DADA2 were included in the study. The median age at symptom onset was 6.5 years (range 3.5-13.5 years). The median time to diagnosis from the initial presentation was 9 (3-72) months. Consanguinity was present in the families of 4 cases. The skin, nervous system, and musculoskeletal system were the most commonly involved systems. Vasculitis mimicking polyarteritis nodosa (PAN) was the predominant phenotype (n=4) in our case series. Four patients with PAN-like features had neurological involvement. Ischemic strokes were found in 3 patients, cranial nerve palsy in 2 patients, and seizures in 2 patients. The CECR1 gene was analyzed in all patients. We analyzed plasma ADA2 enzyme activity only in one patient. Anti-tumor necrosis factor (TNF)-α therapy was initiated. Inflammation was suppressed and remission was achieved in all patients. CONCLUSION: DADA2 should be considered in patients with PAN-like disease, a history of familial PAN/vasculitis, early-onset strokes/neurological involvement with systemic inflammation. Furthermore, anti-TNF-α therapy appears to be beneficial for the treatment of DADA2.
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Se presenta a un varón de 40 años, residente en la ciudad de Lima, sin viajes recientes, con fiebre, malestar general, cefalea y diarrea. Acudió al Servicio de Emergencia y los exámenes auxilares mostraron leucopenia y trombocitopenia leve. Los estudios para Epstein-Barr, hepatitis B, toxoplasma, rubéola, citomegalovirus, herpes 1 y 2 y COVID-19 fueron negativos. Los anticuerpos IgM y IgG para dengue fueron negativos, y la proteína NS1 fue positiva. El paciente fue diagnosticado con dengue y solo recibió paracetamol. En el seguimiento, en el séptimo día de enfermedad, se le halló afebril y con lesiones dérmicas tipo livedo reticularis en los miembros, principalmente. Se resalta este inusual patrón cutáneo en dengue.
We present the case of a 40-year-old male, resident of Lima city, with no recent travels, with fever, general malaise, headache and diarrhea. He went to the Emergency Department and auxiliary tests showed leukopenia and mild thrombocytopenia. Studies for Epstein-Barr, hepatitis B, toxoplasma, rubella, CMV, herpes 1-2 and COVID-19 were negative. IgM and IgG antibodies for dengue were negative and NS1 protein was positive. He was diagnosed with dengue. He only received paracetamol. On follow-up, on the seventh day of illness, he was found afebrile and with livedo reticularis type dermal lesions on the limbs, mainly. This unusual cutaneous pattern in dengue is highlighted.
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BACKGROUND: Livedoid vasculopathy (LV) is a rare, disabling disease characterized by painful ulcers, livedo reticularis and atrophy blanche. Hypercoagulation, endothelial, and microcirculatory dysfunction are believed to be responsible for the pathogenesis of this difficult-to-treat disease. OBJECTIVES: This study sought to investigate the frequency of endothelial dysfunction, hypercoagulability, and nailfold capillaroscopic features in LV patients to shed light on its etiology. METHODS: This case-control study included 16 patients with LV, 24 with systemic sclerosis (SSc), and 23 control subjects. Serum markers of endothelial dysfunction soluble endoglin, endocan, endothelin-1, lipoprotein a, plasminogen activator inhibitor-1 (PAI-1), soluble thrombomodulin, and von Willebrand factor were measured using enzyme-linked immunosorbent assays. Flow-mediated dilation and carotid intima-media thickness were examined as markers of endothelial dysfunction, and microcirculation was assessed with nailfold capillaroscopy. Thrombophilia-related parameters, including gene polymorphisms of factor V Leiden, prothrombin, PAI-1 genes, methylenetetrahydrofolate reductase (MTHFR) and factor XIII mutation and serum levels of protein C, protein S, antithrombin, homocysteine, D-dimer and antiphospholipid antibodies were investigated in LV patients. RESULTS: Plasminogen activator inhibitor-1 and soluble thrombomodulin levels were significantly higher in LV patients compared to control subjects (2.3 [2.05-2.79] ng/ml vs. 1.89 [1.43-2.33] ng/ml, p = 0.007; 1.15 [0.88-1.4] ng/ml vs. 0.76 [0.56-0.9] ng/ml, p = 0.004, respectively). Flow-mediated dilation was 25.4 % lower in the LV patients compared to the control group (14.77 % [11.26-18.26] vs. 19.80 % [16.47-24.88], p = 0.034). Capillaroscopic features, including ramifications (75 % vs. 8.7 %, p < 0.001), avascular areas (25 % vs. 0 %, p = 0.011) and dilatations (33.2 % vs. 0 %, p = 0.016), were significantly higher in LV patients than in controls. LV patients had multiple biochemical or genetic abnormalities related to thrombophilia, including heterozygous factor V Leiden mutations (6.3 %), MTHFR (C677T) mutations (heterozygous 43.8 %, homozygous 18.8 %), MTHFR (A1298C) mutations (heterozygous 37.5 %, homozygous 12.5 %), factor XIII heterozygous mutation (12.5 %), antithrombin deficiency (31.3 %), protein S deficiency (12.5 %), hyperhomocysteinemia (31.3 %), D-dimer elevation (25 %), anti-ß2-glycoprotein I (12.5 %), lupus anticoagulant antibodies (6.3 %), and anticardiolipin antibodies (6.3 %). CONCLUSIONS: In conclusion, LV patients were characterized by an increased presence of thrombophilia-related parameters, and also exhibited vascular endothelial and microcirculatory dysfunction, resembling SSc. These findings support the complex interaction of thrombophilia, endothelial dysfunction, and microcirculation dysregulation in the pathogenesis of LV. Thus, the treatment of LV patients should be individualized, based on the identification of the predominant pathological pathways.
Subject(s)
Livedo Reticularis , Livedoid Vasculopathy , Thrombophilia , Humans , Plasminogen Activator Inhibitor 1 , Thrombomodulin , Case-Control Studies , Factor XIII , Carotid Intima-Media Thickness , Microcirculation , Microscopic Angioscopy , Thrombophilia/diagnosis , AntithrombinsABSTRACT
We present a rare case of slow-progressing neurocutaneous vasculopathy described as Sneddon syndrome. A child presented with global developmental delay, congenital livedo racemosa, unilateral vision loss, and a past history of focal neurological deficit. Our main objective is to make physicians aware of this nature of presentation in children.
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Objective: Cutaneous polyarteritis nodosa (CPAN) is a distinct clinical entity represented by a chronic, relapsing, benign course, with rare systemic involvement. Treatment is with CSs, CYC or other conventional synthetic DMARDs (csDMARDs). In this case series, we aimed to share our varied clinical experience of successfully treating patients with CPAN, with tofacitinib in a refractory/relapsing course or as upfront monotherapy without CSs/csDMARDs. Methods: We report this retrospective case series managed at our rheumatology centre in Bangalore from 2019 to 2022. Four patients identified as CPAN on biopsy were able to achieve disease-free remission with tofacitinib as part of their treatment, with no relapse on further follow-up. Our patients presented with subcutaneous nodules and cutaneous ulcers. After systemic evaluation, all the patients underwent skin biopsy, which showed fibrinoid necrosis in the vessel walls of the dermis, with a histopathological impression of CPAN. They were initially treated with a conventional approach of CSs with/without csDMARDs. On experiencing a refractory/relapsing course, tofacitinib was tried in all the patients as either CS sparing or upfront monotherapy without concomitant csDMARDs. Results: Use of tofacitinib resulted in improvement of ulcers and paraesthesia and in gradual healing of skin lesions, albeit with scarring, with no further recurrence or relapse over a follow-up period of 6 months for all the patients. The therapeutic effect of tofacitinib was consistent when used either as CS sparing or as upfront monotherapy, thereby proving the drug to be a promising option that warrants larger trials in future to treat the subset of patients with established CPAN. Conclusion: Tofacitinib could be used for disease-free remission as monotherapy for CPAN either upfront or as CS sparing, even without concomitant csDMARDs, in those patients who are dependent on CSs or multiple DMARDs.
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BACKGROUND: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease caused by mutations in the ADA2 gene. DADA2 has a broad spectrum of clinical presentations. Apart from systemic manifestations, we can categorize most of the signs and symptoms of DADA2 into the three groups of vasculitis, hematologic abnormalities, and immunologic dysregulations. The most dominant vasculitis features are skin manifestations, mostly in the form of livedo racemosa/reticularis, and early onset ischemic or hemorrhagic strokes. Hypogammaglobulinemia that is found in many cases of DADA2 brings immunodeficiencies into the differential diagnosis. Cytopenia, pure red cell aplasia (PRCA), and bone marrow failure (BMF) are the hematologic abnormalities commonly found in DADA. CASE PRESENTATION: We introduce eleven patients with DADA2 diagnosis, including two brothers and sisters, one set of twin sisters, and one father and his daughter and son. Ten patients (91%) had consanguineous parents. All the patients manifested livedo racemose/reticularis. Ten patients (91%) reported febrile episodes, and seven (64%) had experienced strokes. Only one patient had hypertension. Two of the patients (11%) presented decreased immunoglobulin levels. One of the patients presented with PRCA. Except for the PRCA patient with G321E mutation, all of our patients delivered G47R mutation, the most common mutation in DADA2 patients. Except for one patient who unfortunately passed away before the diagnosis was made and proper treatment was initiated, the other patients' symptoms are currently controlled; two of the patients presented with mild symptoms and are now being treated with colchicine, and the eight others responded well to anti-TNFs. The PRCA patient still suffers from hematologic abnormalities and is a candidate for a bone marrow transplant. CONCLUSIONS: Considering the manifestations and the differential diagnoses, DADA2 is not merely a rheumatologic disease, and introducing this disease to hematologists, neurologists, and immunologists is mandatory to initiate prompt and proper treatment. The efficacy of anti-TNFs in resolving the symptoms of DADA2 patients have been proven, but not for those with hematologic manifestations. Similarly, they were effective in controlling the symptoms of our cohort of patients, except for the one patient with cytopenia.
Subject(s)
Adenosine Deaminase , Intercellular Signaling Peptides and Proteins , Male , Humans , Adenosine Deaminase/genetics , Iran , ResearchABSTRACT
Introducción: Las manifestaciones dermatológicas constituyen un grupo fundamental dentro de la morbilidad extraarticular en pacientes con lupus eritematoso sistémico. Su importancia radica en la elevada frecuencia de presentación y en el papel diagnóstico de la enfermedad. Objetivo: Describir las manifestaciones dermatológicas identificadas en pacientes con diagnóstico de lupus eritematoso sistémico. Métodos: Investigación básica, descriptiva, transversal, que tuvo como universo a 87 pacientes con diagnóstico de lupus eritematoso sistémico, según criterios del Colegio Americano de Reumatología, atendidos durante el periodo junio 2017 - junio 2022 en la consulta externa de reumatología de la Clínica Metropolitana de la ciudad de Riobamba. La muestra quedó conformada por 72 pacientes a los cuales se les aplicó una encuesta para obtener información relacionada con las características generales de los pacientes y de la enfermedad. Resultados: Promedio de edad de 40,59 años, predominio de pacientes entre 40 y 49 años (30,56 %), del sexo femenino (95,83 %) y con tiempo de evolución entre 1 y 5 años (62,50 %). El 86,11 % de los pacientes refirió manifestaciones dermatológicas, el rash malar (74,19 %) y el livedo reticular (33,87 %) fueron las de mayor frecuencia de presentación. El 65,30 % de los casos usan protección solar, el bloqueador solar fue el más utilizado (61,70 %). Conclusiones: Las manifestaciones dermatológicas más frecuentes en el curso evolutivo del lupus fueron el rash malar, livedo reticular y la alopecia.
Introduction: Dermatological manifestations constitute a fundamental group within extra-articular morbidity in patients with systemic lupus erythematosus. Its importance lies in the high frequency of presentation and in the diagnostic role of the disease. Objective: To describe the dermatological manifestations identified in patients diagnosed with systemic lupus erythematosus. Methods: Basic, descriptive, cross-sectional research, whose universe was 87 patients diagnosed with systemic lupus erythematosus, according to the criteria of the American College of Rheumatology, treated during the period June 2017 - June 2022 in the rheumatology outpatient clinic of the Metropolitan Clinic. from the city of Riobamba. The sample was made up of 72 patients to whom a survey was applied to obtain information related to the general characteristics of the patients and the disease. Results: Average age of 40.59 years, predominance of patients between 40 and 49 years (30.56%), female (95.83%) and with evolution time between 1 and 5 years (62.50%). 86.11% of the patients reported dermatological manifestations, malar rash (74.19%) and livedo reticularis (33.87%) were the most frequently present. 65.30% of the cases used sun protection, being sunscreen the most used (61.70%). Conclusions: Dermatological manifestations are frequent in the evolutionary course of lupus, predominantly malar rash, livedo reticularis and alopecia.
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Cat eye syndrome (CES), also known as Schmid-Fraccaro syndrome, is a complex genetic syndrome with a highly variable phenotype that includes ocular coloboma, anal atresia, preauricular skin tags and pits, heart defects, kidney malformations, dysmorphic facial features, and mild to moderate intellectual disability. We describe a case of a 23-year-old male with a past medical history of CES with short stature, mild learning disability, and some dysmorphic facial features who presented with recurrent pruritus and rashes and had mild liver dysfunction. Furthermore, the patient did not have the classic presentation of CES but a clinically milder expression of the phenotypes. Abnormalities in the abdominal ultrasound prompted an ultrasound-guided liver biopsy, which showed bile ductular proliferation with mild portal inflammation composed of lymphocytes and plasma cells, and bridging fibrosis. The patient's labs showed elevated immunoglobulins with the highest increase observed in IgG, along with negative antinuclear antibodies (ANA), negative anti-mitochondrial antibody, and negative hepatitis A/B/C but a weak positive anti-smooth muscle antibody (ASMA). These findings indicated that the patient most likely had autoimmune hepatitis (AIH) or an overlap syndrome with primary sclerosing cholangitis (PSC). The patient was initially treated with steroids and antihistamines for pruritus, which led to some clinical improvement. After dermatological evaluation, the patient was diagnosed with atopic dermatitis and was recently started on a dupilumab 600 mg loading dose and would continue with biweekly dupilumab 300 mg injections. This dermatological finding may require additional examination and can be a unique presentation in patients with CES. This case illustrates that even patients with milder CES expression can experience intense dermatological complications if not effectively managed. CES is a multifactorial disease that requires intervention from multiple specialists. Therefore, primary care physicians must be aware of the potential complications of CES and make adequate referrals to closely monitor patients' symptoms.