The diagnostic value of skin biopsies in Sneddon syndrome.

BACKGROUND: Sneddon syndrome (SS) is defined by widespread livedo reticularis (LR) and stroke. There is no single diagnostic test for SS and diagnosis can be solely based on clinical features. This cross-sectional case-control study aimed to determine the diagnostic value of skin biopsies in SS patients. MATERIALS AND METHODS: We studied skin biopsies from patients with a clinical diagnosis of SS or isolated LR. We also studied controls with vitiligo or normal skin. Biopsies were considered standardized if 3 biopsies were taken from the white centre of the livedo and reached until the dermis-subcutis border. Biopsies were scored for features of an occlusive microangiopathy without knowledge of the clinical features. Sensitivity and specificity of the biopsy findings were calculated with the clinical criteria as the reference standard. RESULTS: We included 34 SS patients, 14 isolated LR patients and 41 control patients. Biopsies of 17 patients with SS (50%), 4 with isolated LR (31%) and 10 control patients (24%) showed at least one artery in the deep dermis with a thickened vessel wall combined with recanalization or neovascularization (sensitivity 50% and specificity 69% with LR as reference). Standardized biopsies increased the sensitivity to 70%. In a post hoc analysis the combination of an occlusive microangiopathy and the presence of a livedo pattern in the superficial dermis increased the specificity to 92%. CONCLUSIONS: Standardized skin biopsies can support the clinical diagnosis of SS. An occlusive microangiopathy as the only positive criterion for the diagnosis of SS had insufficient specificity for a definite diagnosis.

Three cases of Sneddon syndrome: A comparison with lymphocytic thrombophilic arteritis.

Lymphocytic thrombophilic arteritis and Sneddon syndrome can have very similar clinical presentations with chronic persistent widespread blanchable livedo racemosa. Lymphocytic thrombophilic arteritis has only recently been described and generally is associated with a benign prognosis. Sneddon syndrome is associated with the development of multiple cerebrovascular accidents and progressive neurological impairment. We present three cases of Sneddon syndrome and compare them with lymphocytic thrombophilic arteritis to identify patients at risk of neurological events.

Clinical and Histopathologic Characteristics of the Main Causes of Vascular Occusion - Part II: Coagulation Disorders, Emboli, and Other. / Dermatopatología de la oclusión intraluminal vascular: parteII (coagulopatías, émbolos y miscelánea).

Vascular occlusion has multiple, diverse clinical manifestations, some of which can have grave consequences for patients. It also has a wide variety of causes, including thrombi, which we recently addressed in partI of this review. In this second part, we look at additional causes of vascular occlusion.

Sneddon Syndrome: A Comprehensive Overview.

Sneddon syndrome (SS) is an episodic or chronic, slowly progressive disorder and characterized by generalized livedo racemosa (patchy, violaceous, skin discoloration) and recurrent cerebrovascular events. The histopathology of skin and brain is remarkable for a noninflammatory thrombotic vasculopathy involving medium- and small-sized dermal and cerebral arteries, respectively. Approximately 80% of the SS patients are women with a median age of diagnosis at 40 years. However, the onset of the disease during childhood have been reported. Etiopathogenesis of SS is unknown with 2 primary mechanisms proposed - autoimmune/inflammatory versus thrombophilia. SS is primarily classified as antiphospholipid positive or negative type. Neurological manifestations usually occur in 3 phases: (1) prodromal symptoms such as headaches, dizziness, and vertigo, (2) recurrent strokes, and (3) early onset dementia. Livedo racemosa precedes the onset of recurrent strokes by more than 10 years, but in many instances, the significance of the skin lesion is recognized only after the appearance of the stroke. The involvement of the heart valves, systolic labile hypertension, and retinal changes are also commonly associated with this syndrome. Treatment of SS is primarily based on anecdotal reports. Antiplatelet and antithrombotic agents are used for secondary stroke prophylaxis, and a recent study showed a relatively lower stroke recurrence rate with the universal use of antiplatelet/antithrombotic agents. Routine use of anti-inflammatory or immunosuppressive therapies is controversial. Neuropsychiatric prognosis of SS is relatively poor with predominant deficits in the concentration, attention, visual perception, and visuospatial skills.

Infarto de nervio óptico asociado a síndrome de Sneddon / Optic nerve infarction in Sneddon's syndrome

CASO CLÍNICO: Se expone el caso de una mujer de 26 años con fenómeno de Raynaud y livedo reticularis de 2 años de evolución que se presentó con alteraciones del campo visual acompañadas de hipertensión arterial, hematuria y cefalea. En la exploración se objetivaron múltiples infartos retinianos y de cabeza del nervio óptico bilateral. DISCUSIÓN: El síndrome de Sneddon es una vasculitis que cursa con livedo reticularis, clinica neurológica y, menos frecuentemente, con infartos de miocardio, renales y retinianos. Revisando la literatura podemos decir que se trata del primer caso de síndrome de Sneddon descrito que se inició con infartos del nervio óptico

CLINICAL CASE: We report a case of a 26 year old woman with Raynaud's phenomenon and livedo reticularis 2 years onset, who presented with visual field defects accompanied by hypertension, hematuria, and headache. The examination revealed multiple retinal and optic nerve head infarcts in both eyes. DISCUSSION: Sneddon's syndrome is a vasculitis that produces livedo reticularis, neurological symptoms, and less frequently myocardial, renal and retinal infarction. After reviewing the literature, this is the first case described of Sneddon's syndrome presenting with optic nerve infarction

Sneddon's Syndrome presenting with topographic disorientation.

A 32-year-old woman was admitted to our department for a progressive difficulty in topographic orientation, confirmed by an extensive battery of neuropsychological tests. All biochemical and immunological examinations of blood and cerebrospinal fluid and a cerebral MRI were normal, but a technetium-99m-ethyl cysteinate dimer-single photon emission CT (Tc-99m ECD-SPECT) scan showed bilateral parietal hypoperfusion. The patient refused to undergo other examinations, but 14 months later she returned to hospital for diffuse cutaneous livedo reticularis over her trunk and legs. This time the MRI showed small frontoparietal cortical-subcortical abnormalities suggestive of arterial ischemic infarctions. We made a diagnosis of Sneddon's Syndrome (SNS). SNS is characterized by the association of livedo reticularis and cerebrovascular disease; non-dermatological onset is extremely uncommon. To our knowledge, this is the first description of a patient presenting with cognitive impairment only and observed at such an early stage of the disease that a cerebral MRI was normal.

Valor de la biopsia cutánea en el síndrome de Sneddon / No disponible

No disponible

Sneddon's syndrome presenting with severe disabling bilateral headache.

Sneddon's syndrome is a rare vascular disease affecting mainly skin and brain arterioles leading to their occlusion due to excessive endothelial proliferation. The two main features of this syndrome are livedo reticularis and lacunar subcortical infarcts. Here, we describe the case of a 64-year-old woman presenting with a 4-year history of a throbbing, bilateral, parieto-occipital headache associated with facial pain, but without any other accompanying symptom. The pain, initially misdiagnosed as atypical trigeminal neuralgia, worsened up to chronic daily and such severely disabling headache that she was constrained to bed. She presented with reduced cognitive functions, diffuse and severe livedo reticularis, severe myalgias and mild stiffness. All diagnostic test for different diseases were performed and other diseases excluded except for Sneddon's syndrome. Her symptoms were reduced firstly using acetylsalicylic acid, then ticlopidine 250 mg bid was begun and then Pentoxyphillin, resulting in a significant improvement of symptoms with the disappearance of headache. Her worsening in the first year was characterized by obsessive-compulsive behaviours, body-image misperceptions and panic attacks, improved for a period using olanzapine. Considering this case, we remark the importance of using headache classification to avoid diagnostic errors, secondly, we describe an atypical manifestation of Sneddon's syndrome and therapeutic efficacy of using ticlopidine and pentoxyphillin.

Síndrome de Sneddon: a propósito de un caso / Sneddon syndrome: a case report

El síndrome de Sneddon (SS) es una vasculopatía oclusiva poco frecuente, de etiología no bien precisada, que compromete principalmente la piel (livedo reticularis), el sistema nervioso central (accidentes vasculares isquémicos) y el sistema cardiovascular (hipertensión arterial). Se describe una forma idiopática primaria, una trombótica y una asociada a patologías autoinmunes como el síndrome antifosfolípidos. La livedo reticularis suele preceder al resto de las manifestaciones. La biopsia de piel tomada del centro del retículo es característica. El estudio de laboratorio incluye la búsqueda de algunas mesenquimopatías y la pesquisa serológica del síndrome antifosfolípidos. Entre las posibilidades terapéuticas se incluyen la anticoagulación, la administración de antiagregantes plaquetarios y el evitar agentes protrombóticos. Presentamos el caso de un hombre de 45 años con deterioro cognitivo, accidentes cerebrovasculares trombóticos, hipertensión arterial y livedo reticularis, en el que se diagnostica SS. Es manejado con aspirina y antihipertensivos, evolucionando favorablemente. Destacamos la importancia de reconocer los hallazgos cutáneos del SS para un oportuno diagnóstico y tratamiento.

Sneddon’s syndrome (SS) is a rare vasculopathy of partially known etiology affecting mainly the skin (livedo reticularis), central nervous system (ischemic cerebrovascular episodes) and cardiovascular system. A primary idiopathic form, a thrombotic form and one associated with autoimmune diseases such as the antiphospholipid syndrome, are described. Livedo reticularis is commonly the first manifestation. Skin biopsy taken from the center of the reticulum is characteristic. Laboratory study includes a screening of antiphospholipid syndrome and mesenquimopathies. Possible treatments are anticoagulation, administration of platelet antiagregants and avoidance of pro-thrombotic agents. We present the case of a 45 year old man with dementia, thrombotic cerebrovascular disease, hypertension and livedo reticularis, who is diagnosed with SS. The patient is managed with aspirin and antihypertension drugs, with good response. We reinforce the importance of SS skin manifestations for a proper and quick diagnosis and treatment.