Síndrome de Sneddon não relacionada a anticorpos antifosfolípides / Sneddon's syndrome not related to antiphospholipid antibodies

RESUMO A Síndrome de Sneddon é uma vasculopatia trombótica não inflamatória rara, caracterizada por livedo reticular generalizado e eventos cerebrovasculares isquêmicos recorrentes. Sua forma idiopática, ou seja, aquela não relacionada a positividade de anticorpos ou presença de outras doenças, é a mais incomum. As inúmeras manifestações que podem se relacionar à síndrome refletem a heterogeneidade dos casos, ressaltando a importância da investigação clínica e seguimento desses pacientes. Relatamos um caso de Síndrome de Sneddon idiopática em paciente feminina a qual apresentou livedo reticular generalizado como manifestação inicial, seguido de acidentes vasculares cerebrais. PALAVRAS-CHAVE: Síndrome de Sneddon, anticorpos antifosfolípides, livedo reticular

ABSTRACT Sneddon Syndrome is a rare non-inflammatory thrombotic vasculopathy characterized by generalized reticular livedo and recurrent ischemic cerebrovascular events. Its idiopathic form, that is, that not related to antibody positivity or the presence of other diseases, is the most uncommon. The numerous manifestations that may be related to the syndrome reflect the heterogeneity of cases, highlighting the importance of clinical investigation and follow-up of these patients. We report a case of idiopathic Sneddon's Syndrome in a female patient who presented generalized livedo reticularis as the initial manifestation, followed by cerebrovascular accidents. KEYWORDS: Sneddon's Syndrome, antiphospholipid antibodies, livedo reticularis

Enfermedad por aglutininas frías: proceso diagnóstico, tratamiento y seguimiento de un paciente / Cold agglutinin disease: diagnosis, treatment and follow-up of a patient

La enfermedad por crioaglutininas es una anemia hemolítica autoinmune que se caracteriza, en la gran mayoría de los casos, por la hemólisis mediada por autoanticuerpos de tipo IgM y complemento C3d, contra los antígenos de la membrana del eritrocito, que conduce a hemólisis extravascular con propensión a la trombosis, y que afecta principalmente al sexo femenino y personas mayores. Su diagnóstico se realiza con la prueba de Coombs directo y fraccionado, y la titulación de aglutininas frías >1:64 a 4 °C. Se describe el caso clínico de una mujer de 89 años con un síndrome constitucional y una anemia de 3 años de evolución, en quien se determinó el diagnóstico de enfermedad por aglutininas frías. Asimismo, se describe el abordaje diagnóstico, el tratamiento instaurado, y se hace una breve revisión de la literatura publicada

Cold agglutinin disease (CAD) is an autoimmune hemolytic anemia characterized in the vast majority of cases by hemolysis mediated by IgM autoantibodies and complement C3d against erythrocyte membrane antigens, leading to extravascular hemolysis with propensity to thrombosis, affecting mainly females and older individuals. It is diagnosed by direct and fractionated Coombs test and a cold agglutinin titer >1:64 at 4 °C. We describe the case of an 89-year-old woman with a constitutional syndrome and a 3-year history of anemia, who was diagnosed with cold agglutinin disease. Also, we include the diagnostic and treatment approach, and a brief review of the literature

Livedo reticularis by hypothermia during anesthesia for dental treatment in Down's syndrome patient / Livedo reticular por hipotermia durante anestesia para tratamento odontológico em paciente com síndrome de Down

Abstract Background: Livedo reticularis is a benign dermatological condition characterized by ischemic areas permeated by erythematous-cyanotic areas in a lacy pattern, and may be transient or permanent and is frequently associated with body exposure to cold. Cutaneous arterial vasospasm promotes ischemia, and venous dilation of the congested areas occurs by tissue hypoxia or autonomic dysfunction. Patients with Down's syndrome, due to their physiological peculiarities, constitute a representative part of those who require dental care under general anesthesia, and livedo reticularis has a reported incidence of 8-12% in Down's syndrome patients. Objectives: To describe the physiological livedo reticularis in a Down's syndrome patient, with the onset during the anesthetic-surgical procedure. Case report: 5-year-old female patient with Down's syndrome, admitted for dental treatment under balanced general anesthesia with sevoflurane, fentanyl, and atracurium. Transoperative hypothermia occurred with axillary temperature reaching 34.5 °C after 30 min after the beginning of anesthesia. At the end of the procedure, red-purplish skin lesions interspersed with areas of pallor were observed exclusively on the ventromedial aspect of the right forearm, with no systemic signs suggestive of allergic reactions. The established diagnosis was physiological livedo reticularis. There was a total fading of the lesions within 5 days. Conclusion: This report evidences the need for thermal control of patients undergoing anesthesia, as well as the manifestation of livedo reticularis as a consequence of transoperative hypothermia.

Resumo Justificativa: O livedo reticular representa quadro dermatológico benigno, caracterizado por áreas isquêmicas permeadas por áreas eritematocianóticas em padrão rendilhado, pode ser transitório ou permanente e frequentemente é associado à exposição corporal ao frio. O vasoespasmo arterial cutâneo promove a isquemia e a dilatação venosa das áreas congestas e ocorre por hipóxia tecidual ou por disfunção autonômica. Os portadores da síndrome de Down, devido às suas peculiaridades fisiológicas, constituem uma representativa parcela daqueles que necessitam de atendimento odontológico sob anestesia geral e o livedo reticular tem incidência relatada de 8% a 12% em pacientes com síndrome de Down. Objetivos: Descrever quadro de livedo reticular fisiológico em paciente portador de síndrome de Down, com aparecimento durante o ato anestésico-cirúrgico. Relato do caso: Paciente de cinco anos, sexo feminino, síndrome de Down, admitida para tratamento odontológico sob anestesia geral balanceada, com emprego de sevoflurano, fentanil e atracúrio. Houve ocorrência de hipotermia transoperatória, a temperatura axilar atingiu 34,5 ºC após 30 minutos do início da anestesia. Ao término do procedimento, notaram-se lesões cutâneas vermelho-arroxeadas, intercaladas com áreas de palidez, exclusivamente na face ventromedial do antebraço direito, sem sinais sistêmicos sugestivos de reações alérgicas. O diagnóstico firmado foi de livedo reticular fisiológico. Houve esmaecimento total das lesões em cinco dias. Conclusão: O relato apresentado evidencia a necessidade de controle térmico de pacientes submetidos a anestesias, bem como registra manifestação de livedo reticular em consequência de hipotermia transoperatória.

Monogenic Autoimmune Diseases

Monogenic autoimmune diseases (AD) present as lupus-like clinical manifestations with recurrent fever or various vasculopathies. Recurrent fever with an elevation of acute phase reactants and various skin lesions are similar in monogenic AD and autoinflammatory disease. The molecular pathogenesis of adult systemic erythematosus can be understood through monogenic AD based on gene defects: complement, apoptosis, interferonopathy via nucleic acid sensing, tolerance, rasopathies, and others. Skin vasculopathy with chilblains and livedo reticularis, interstitial lung disease, and panniculitis are common occurrences in type I interferonopathy. Some syndromes have been reported to present with autoimmune inflammation and the general clinical findings, including cerebral calcification. Various clinical manifestations in monogenic AD present in accordance with the gene loss- or gain-of-function mutations involved. The monogenic AD for the early onset of more severe lupus-like symptoms or vasculopathy needs to be considered. Furthermore, clinical trials were conducted via targeted therapy for related molecular pathways, because conventional treatments were not effective in managing monogenic AD.

Poliarteritis nodosa cutánea / CUTANEOUS POLYARTERITIS NODOSA

La poliarteritis nodosa es una vasculitis de los vasos de mediano calibre que puede afectar solamente la piel o tener compromiso sistémico. Los signos cutáneos más frecuentes son livedo reticularis, nódulos y ulceras dolorosas. Se presenta un paciente masculino de 40 años de edad que consultó por nódulos eritematovioláceos dolorosos en miembros de un mes de evolución. Se realizó biopsia sugestiva de poliarteristis nodosa, se detectó serología para VIH positiva, cavitaciones pulmonares en TAC de tórax y lavado broncoalveolar con baciloscopía positiva para tuberculosis (TBC). Se inicia tratamiento antifímico y antiretroviral con mejoría de la clínica respiratoria y resolución a los 2 meses de las lesiones en piel

Polyarteritis nodosa is a vasculitis of medium sized vessels that can affect only skin or have systemic involvement. The most frequent cutaneous signs are livedo reticularis, nodules and painful ulcers. We present a 40 year-old male patient who consulted for painful erythematouspelvic nodules in a month of evolution. A biopsy suggestive of polyarteritis nodosa was detected, positive HIV serology, pulmonary cavitations in chest CT and bronchoalveolar lavage with tuberculosis-positive smear microscopy (TB). Antimicrobial and antiretroviral treatment with respiratory clinic improvement and resolution at 2 months of skin lesions are started

Síndrome de Sneddon asociado a síndrome antifosfolipídico: descripciones clínicas y revisión de la literatura / Sneddon syndrome associated with antiphospholipid syndrome: clinical descriptions and a literature review

Resumen El síndrome de Sneddon es una rara vasculopatía no inflamatoria, obliterante, caracterizada por la asociación de eventos cardiovasculares (hipertensión arterial, claudicación intermitente y enfermedad coronaria), neurológicas (accidentes cerebrovasculares isquémicos, cefalea, vértigo y convulsiones) y livedo reticularis de tipo racemosa. Presentamos a una mujer que ingresa con un cuadro neurológico isquémico, hipertensión arterial, problemas vasculares y lesiones en piel. La biopsia de piel se catalogó como dermatitis perivascular superficial linfocitaria, sugestivo de lesión oclusiva.

Abstract Sneddon syndrome is a rare non-inflammatory obliterative vasculopathy, characterised by the association of cardiovascular (arterial hypertension, intermittent claudication, and coronary artery disease) and neurological events (ischaemic stroke, headache, dizziness and convulsions), and livedo reticularis/livedo racemosa. The case is presented of a woman admitted with an ischaemic neurological disease, hypertension, vascular problems, and skin lesions. The skin biopsy was classified as surface perivascular lymphocytic dermatitis, suggestive of occlusive lesion.

Vasculopatia livedóide: a propósito de um caso clínico / Livedoid vasculopathy: a clinical case proposition

A vasculopatia livedóide é uma dermatose crônica oclusiva dos vasos sanguíneos da derme, de caráter pauci-inflamatório ou não inflamatório, extremamente dolorosa. A etiologia não é totalmente esclarecida; estando associada a eventos pró-trombóticos. Caracterizada pela presença de lesões maculopapulares, eritêmato-purpúricas, nos membros inferiores, especialmente nos tornozelos e pés que ulceram gerando cicatrizes atróficas, denominadas atrofia branca. A histopatologia evidencia oclusão dos vasos da derme, devido à deposição de fibrina intravascular e presença de trombo intraluminal, além de hialinização segmentar e proliferação endotelial, há também, um infiltrado inflamatório perivascular discreto. Descrevemos um caso de vasculopatia livedóide evidenciando os achados histopatológicos encontrados na biópsia. (AU)

Livedoid vasculopathy is a chronic occlusive vasculopathy dermatosis, with a pauciinflammatory or noninflammatory characteristic, and is extremely painful. Its ethiology is not entirely known, being associated with pro-thrombotic events. Characterized by erythematous purpuric maculopapular lesions on the legs, especially on the ankles and feet, that ulcerates and heals with white atrophic scars, named atrophie blanche. Histopathology shows occlusion of dermal vases, segmental hyalinization and endothelial proliferation; there is also a discreet perivascular inflammatory infiltrate. We describe a case of livedoid vasculopathy showing the histopathological findings on the biopsy. (AU)

A Case of Rheumatoid Vasculitis Involving Hepatic Artery in Early Rheumatoid Arthritis

Rheumatoid vasculitis is a rare, but most serious extra-articular complications of long-standing, seropositive rheumatoid arthritis (RA). Vasculitis of hepatic artery is an extremely rare but severe manifestation of rheumatoid vasculitis. A 72-year-old woman who presented with polyarthralgia for 2 months was diagnosed with early RA. Since she had manifestations of livedo reticularis, and liver dysfunction which was atypical for RA patients, a percutaneous needle liver biopsy was performed revealing arteritis of a medium-sized hepatic artery. Extensive investigations did not reveal evidences of other systemic causes such as malignancy or systemic vasculitis. The patient was diagnosed with rheumatoid vasculitis involving hepatic arteries based on Bacon and Scott criteria for rheumatoid vasculitis. With high dose corticosteroid and cyclophosphamide induction and methotrexate and tacrolimus maintenance treatment, she was successfully recovered. Association of rheumatoid vasculitis at very early stages of the disease may represent an early aggressive form of RA.

Cutaneous polyarteritis nodosa causing refractory skin deformation and pigmentation as sequel

Abstract: A 39-year-old woman presented with prominent and painful livedo reticularis lesions spreading on her upper and lower extremities. Histopathologically, the small-to medium-sized arteries in the deep dermis and subcutis showed necrotizing vasculitis with cellular infiltration, suggesting cutaneous polyarteritis nodosa. The serum levels of inflammatory markers normalized with aspirin 100mg/day and prednisolone 10mg/day within 2 months, and there was no other skin or organ involvement over 18 months of follow up. However, serious refractory skin depressions and pigmentation remained after two years of treatment. This suggests the importance of early and aggressive therapy for cutaneous polyarteritis nodosa to prevent unsightly skin sequel, as well as control of disease activity.

Dermatological Manifestations of Postural Tachycardia Syndrome Are Common and Diverse

BACKGROUND AND PURPOSE: Postural tachycardia syndrome (POTS) is a syndrome of orthostatic intolerance in the setting of excessive tachycardia with orthostatic challenge, and these symptoms are relieved when recumbent. Apart from symptoms of orthostatic intolerance, there are many other comorbid conditions such as chronic headache, fibromyalgia, gastrointestinal disorders, and sleep disturbances. Dermatological manifestations of POTS are also common and range widely from livedo reticularis to Raynaud's phenomenon. METHODS: Questionnaires were distributed to 26 patients with POTS who presented to the neurology clinic. They were asked to report on various characteristics of dermatological symptoms, with their answers recorded on a Likert rating scale. Symptoms were considered positive if patients answered with "strongly agree" or "agree", and negative if they answered with "neutral", "strongly disagree", or "disagree". RESULTS: The most commonly reported symptom was rash (77%). Raynaud's phenomenon was reported by over half of the patients, and about a quarter of patients reported livedo reticularis. The rash was most commonly found on the arms, legs, and trunk. Some patients reported that the rash could spread, and was likely to be pruritic or painful. Very few reported worsening of symptoms on standing. CONCLUSIONS: The results suggest that dermatological manifestations in POTS vary but are highly prevalent, and are therefore of important diagnostic and therapeutic significance for physicians and patients alike to gain a better understanding thereof. Further research exploring the underlying pathophysiology, incidence, and treatment strategies is necessary.

Amantadine-induced livedo reticularis - Case report

AbstractLivedo reticularis is a spastic-anatomical condition of the small vessels which translates morphologically by a reticular pattern, interspersing cyanosis, pallor and erythema. The same can be congenital or acquired. Among the acquired, we highlight the physiological livedo reticularis and the idiopathic livedo by vasospasm; the latter configures the most common cause. The drug-induced type is less common. The drugs amantadine and norepinephrine are often implicated. Cyanosis is usually reversible if the causative factor is removed, however, with chronicity, the vessels may become permanently dilated and telangiectatic. We report a case of a patient diagnosed with Parkinson's disease with chronic livedo reticularis associated with the use of amantadine and improvement after discontinuation of the drug.

Livedoid vasculopathy as a marker of systemic disease: report of two cases

The livedoid vasculopathy is an obstructive vascular process of etiology not yet fully known, being possibly associated with several prothrombotic events. It is clinically characterized by the presence of painful and recurring purpuric lesions, which usually suffer ulceration and evolve with formation of white atrophic scars usually located in the lower limbs. Two cases are here reported of painful ulcerated lesions on the lower limbs, in which the identification of VL enabled the diagnosis of systemic diseases.

Livedoid vasculopathy associated with peripheral neuropathy: a report of two cases / Vasculopatia livedoide associada a neuropatia periferica: relato de dois casos

Livedoid vasculopathy (LV) is a chronic and recurrent disease consisting of livedo reticularis and symmetric ulcerations, primarily located on the lower extremities, which heal slowly and leave an atrophic white scar ("atrophie blanche"). Neurological involvment is rare and presumed to be secondary to the ischemia from vascular thrombosis of the vasa nervorum. Laboratory evaluation is needed to exclude secondary causes such as hyper-coagulable states, autoimmune disorders and neoplasms. We present two patients with a rare association of peripheral neuropathy and LV, thereby highlighting the importance of a multidisciplinary approach to reach the correct diagnosis. .

Vasculopatia livedoide é uma doença crônica e recorrente caracterizada por livedo reticular e úlceras simétricas nos membros inferiores, que cicatrizam e deixam uma cicatriz branca atrófica ("atrophie blanche"). Envolvimento neurológico é raro e está provavelmente associado a isquemia pela trombose dos vasa nervorum. Avaliação laboratorial é indicada com o intuito de excluir causas secundárias como estados de hipercoagulabilidade, doenças autoimunes e neoplasias. Apresentamos dois pacientes com uma rara associação de vasculopatia livedoide com neuropatia periférica, enfatizando a importância de uma abordagem multidisciplinar na busca do diagnóstico correto.

Livedo Racemosa Associated with Epstein-Barr Virus-induced Post-transplant Lymphoproliferative Disorder / 대한피부과학회지

Livedo racemosa (LR) is characterized by a striking violaceous netlike patterning of the skin similar to the livedo reticularis, from which it differs by its localization (more generalized), and shape (irregular, broken circular segments). LR is probably caused by patchy impairment of cutaneous arteriolar circulation, resulting in venous dilatation and stasis of blood. LR is always associated with a pathological condition, including hematologic/hypercoagulable disease, vasculitis, connective tissue diseases, neoplasm, lymphoma, infection, cerebrovascular disease, adverse response to a drug, and etc. Hence, clinical, pathological and laboratory examinations are important for excluding these underlying diseases. To date, there have been few reports of LR secondary to posttransplant lymphoproliferative disease (PTLD) in dermatologic literatures. Herein, we report a case of LR associated with Epstein-Barr virus-induced PTLD of cervical lymph node in a 19-year-old female, who had generalized reticular erythematous to violaceous patch on the entire body after allogenic peripheral blood stem cell transplantation.

Gangrenous Cryoglobulinemic Vasculitis in a Patient with Multiple Myeloma / 대한내과학회지

We report a 62-year-old woman with multiple myeloma associated with cryoglobulinemia accompanied by gangrene of the digits. She presented with generalized purplish net-like discoloration (livedo reticularis), which was more prominent in the lower extremities. Multiple small shallow ulcers with crusts were found in places. In addition, gangrene was observed in both ear helices, both index fingers, and several toes. The patient had monoclonal gammopathy consisting of IgG and kappa (3.95 g/dL), cryoglobulinemia, and bone marrow plasmacytosis (42%). A biopsy of a discolored skin patch on the lower leg revealed leukocytoclastic vasculitis. She was diagnosed with multiple myeloma associated with cryoglobulinemia. Immediate plasmapheresis halted the progression of the skin lesions and digital gangrene. Two cycles of thalidomide plus dexamethasone therapy led to a partial response. This case highlights the need to search for cryoglobulinemia and multiple myeloma when we see livedo reticularis or multiple skin ulcers with obscure causes.

Síndrome de Sneddon: reporte de un caso / Sneddon syndrome: case report

El síndrome de Sneddon es una vasculitis sistémica, que se caracteriza por accidente cerebrovascular isquémico y livedo reticularis. Es una enfermedad rara, que se da principalmente en mujeres jóvenes. Presentamos el caso de una mujer de 20 años con el diagnóstico de Síndrome de Sneddon, tratada en forma oportuna y con una evolución favorable en el hospital Doctor Hernán Henríquez Aravena de Temuco (HHHA).

Sneddon's syndrome is a systemic vasculitis, characterized by ischemic stroke and livedo reticularis. It is a rare disease that occurs mainly in young women. We report the case of a 20 year old woman diagnosed with Sneddon syndrome, treated in time and with a favorable outcome at Dr. Hernán Henríquez Aravena Hospital (HHHA) of Temuco