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BACKGROUND: Cutaneous bacillary angiomatosis (cBA) is a vascular proliferative disorder due to Bartonella spp. that mostly affects people living with HIV (PLWH), transplanted patients and those taking immunosuppressive drugs. Since cBA is mostly related to these major immunocompromising conditions (i.e., T-cell count impairment), it is considered rare in relatively immunocompetent patients and could be underdiagnosed in them. Moreover, antimicrobial treatment in this population has not been previously investigated. METHODS: We searched the databases PubMed, Google Scholar, Scopus, OpenAIRE and ScienceDirect by screening articles whose title included the keywords "bacillary" AND "angiomatosis" and included case reports about patients not suffering from major immunocompromising conditions to provide insights about antibiotic treatments and their duration. RESULTS: Twenty-two cases of cBA not related to major immunocompromising conditions were retrieved. Antibiotic treatment duration was shorter in patients with single cBA lesion than in patients with multiple lesions, including in most cases macrolides and tetracyclines. CONCLUSIONS: cBA is an emerging manifestation of Bartonella spp. infection in people not suffering from major immunocompromising conditions. Until evidence-based guidelines are available, molecular tests together with severity and extension of the disease can be useful to personalize the type of treatment and its duration.
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Angiomatose Bacilar , Antibacterianos , Humanos , Angiomatose Bacilar/tratamento farmacológico , Angiomatose Bacilar/microbiologia , Antibacterianos/uso terapêutico , Hospedeiro Imunocomprometido , Masculino , Pessoa de Meia-Idade , Feminino , Adulto , Idoso , Bartonella/efeitos dos fármacosRESUMO
Bartonella elizabethae is a rat-borne zoonotic bacterium that causes human infectious endocarditis or neuroretinitis. Recently, a case of bacillary angiomatosis (BA) resulting from this organism was reported, leading to speculation that B. elizabethae may also trigger vasoproliferation. However, there are no reports of B. elizabethae promoting human vascular endothelial cell (EC) proliferation or angiogenesis, and to date, the effects of this bacterium on ECs are unknown. We recently identified a proangiogenic autotransporter, BafA, secreted from B. henselae and B. quintana, which are recognized as Bartonella spp. responsible for BA in humans. Here, we hypothesized that B. elizabethae also harbored a functional bafA gene and examined the proangiogenic activity of recombinant B. elizabethae-derived BafA. The bafA gene of B. elizabethae, which was found to share a 51.1% amino acid sequence identity with BafA of B. henselae and 52.5% with that of B. quintana in the passenger domain, was located in a syntenic region of the genome. The recombinant protein of the N-terminal passenger domain of B. elizabethae-BafA facilitated EC proliferation and capillary structure formation. Furthermore, it upregulated the receptor signaling pathway of vascular endothelial growth factor, as observed in B. henselae-BafA. Taken together, B. elizabethae-derived BafA stimulates human EC proliferation and may contribute to the proangiogenic potential of this bacterium. So far, functional bafA genes have been found in all BA-causing Bartonella spp., supporting the key role BafA may play in BA pathogenesis.
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Angiomatose Bacilar , Bartonella , Humanos , Animais , Ratos , Sistemas de Secreção Tipo V , Fator A de Crescimento do Endotélio Vascular , Bartonella/genética , Angiomatose Bacilar/microbiologiaRESUMO
The skin represents an indicator of an animal's health status. Causes of cutaneous diseases in fish most often trace back to biological agents. However, fish skin diseases can also arise from a complex interaction of infectious and non-infectious causes, making it more difficult to identify a specific aetiology. In the period between April and September of the years 2019-2022, four koi carp (Cyprinus carpio koi) from two European countries presented with multifocal, irregularly round, few mm to 1 cm, variably raised cutaneous reddened areas. The fish displayed good general condition. Cutaneous samples, investigated by microbiological and molecular methods and microscopy, did not indicate a primary pathogenic agent. Gross and histological findings of the cutaneous biopsies were consistent with a multifocal/reactive process centred on dermal vessels. The histological features were reminiscent of angiomatosis, a benign proliferative condition affecting the dermal vessels of mammals, including human patients. The clinical-pathological presentation and the dermatologic condition that affected the koi carp are discussed and compared with the veterinary and human literature.
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Angiomatose , Carpas , Doenças dos Peixes , Humanos , Animais , Pele , Europa (Continente) , MamíferosRESUMO
BACKGROUND: Diffuse cerebral angiomatosis (DCA) is a diffuse infiltration of normal brain by complex vascular structures. It differs from arteriovenous malformations (AVMs) that are composed of a nidus of vessels through which arteriovenous shunting occurs without interposed functional brain parenchyma. A rare subgroup of AVMs is diffuse with no recognizable nidus with functional neuronal tissue interspersed within the malformed vessels. We present a rare association of DCA and cerebral arterial aneurysm, which dramatically influenced the patient's prognosis. CASE DESCRIPTION: A 43-year-old male patient with right hemispheric diffuse cerebral angiomatosis presented with a ruptured basilar tip aneurysm that was successfully embolised. Unfortunately, the patient developed a locked-in syndrome. CONCLUSION: The present report shows a possible association between diffuse cerebral angiomatosis and cerebral aneurysms, but this association appears to be less strong than it is with other AVMs.
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Aneurisma Roto , Angiomatose , Aneurisma Intracraniano , Malformações Arteriovenosas Intracranianas , Masculino , Humanos , Adulto , Malformações Arteriovenosas Intracranianas/complicações , Malformações Arteriovenosas Intracranianas/diagnóstico por imagem , Malformações Arteriovenosas Intracranianas/cirurgia , Angiografia Cerebral , Aneurisma Intracraniano/complicações , Aneurisma Intracraniano/diagnóstico por imagem , Aneurisma Intracraniano/cirurgia , Prognóstico , Angiomatose/complicações , Angiomatose/diagnóstico por imagem , Angiomatose/cirurgia , Aneurisma Roto/complicaçõesRESUMO
Objective: To investigate the clinicopathological features of children with Sturge-Weber syndrome and to analyze the correlation between the distribution area of leptomeningeal angiomatosis, the degree of cerebral cortical calcification, and the degree of cerebral atrophy associated with epileptic seizures. Methods: 10 children were diagnosed with SWS with FCD IIIc by histopathology and immunohistochemistry. Spearman correlation analysis was used to calculate the association of SWS with FCD IIIc and seizures in children. Results: The leptomeningeal angiomatosis area was markedly positively correlated with the degree of brain atrophy in 10 children with SWS (r = 0.783, p = 0.007). The distribution of leptomeningeal hemangiomatosis, the degree of cortical calcification, and brain atrophy were not significantly correlated with epilepsy. Conclusion: SWS may be accompanied by FCD IIIc. The more extensive the cerebral lobes of leptomeningeal angiomatosis in SWS, the more pronounced the brain atrophy.
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Angiomatose , Epilepsia , Displasia Cortical Focal , Síndrome de Sturge-Weber , Criança , Humanos , Síndrome de Sturge-Weber/complicações , Síndrome de Sturge-Weber/diagnóstico , Síndrome de Sturge-Weber/patologia , Convulsões/etiologia , Angiomatose/complicações , Angiomatose/diagnóstico , Atrofia/complicaçõesRESUMO
Vascular hyperplasia is a common finding in prurigo nodularis/lichen simplex chronicus (LSC). The term prurigiform angiomatosis was recently proposed to describe a histologic pattern characterized by prominent vascular hyperplasia in patients with LSC. The aim of this study was to identify cases of LSC with this pattern and analyze associations with clinical and pathologic features and disease course. We reviewed 54 cases of histologically confirmed LSC and detected findings consistent with prurigiform angiomatosis in 10 (18.5%). The patients (7 men, 3 women) had a mean age of 59.7 years. The lesions were pruritic and predominantly located on the extremities and trunk. The most notable histologic finding was vascular proliferation in the superficial dermis associated with a lymphocytic inflammatory infiltrate. Recognition of prurigiform angiomatosis is important as it helps not only to distinguish LSC from other entities (mainly vascular tumors) but also to detect lesions that need to be surgically excised due to poor response to topical treatment.
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Cutaneous reactive angiomatosis, a group of disorders defined by benign vascular proliferation, is associated with a number of systemic processes, including intravascular occlusion by cryoproteins. We report a case of a 64-year-old female patient who presented with a 1-year history of nontender petechiae of the bilateral arms and lower legs. Dermoscopic evaluation showed increased vascularity with a globular pattern. Over a period of months, her findings progressed to erythematous to violaceous plaques with admixed hypopigmented stellate scarring of the bilateral lower extremities, forearms, and lateral neck. Biopsy showed increased thin-walled, small dermal blood vessels with focal inter-anastamosis. Some vessels were occluded by eosinophilic globules suspicious for cryoprotein. Subsequent laboratory studies confirmed a diagnosis of type 1 cryoglobulinemia, prompting a bone marrow biopsy that revealed lymphoplasmacytic lymphoma. Herein, we report the fourth case of angiomatosis secondary to intravascular cryoproteins as the initial presentation of an underlying hematologic malignancy. We also present a review of the literature and emphasize the need for thorough initial workup and close and prolonged clinical monitoring for underlying systemic disease in these patients.
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Angiomatose/patologia , Crioglobulinemia/diagnóstico , Neoplasias Cutâneas/patologia , Macroglobulinemia de Waldenstrom/diagnóstico , Crioglobulinas/metabolismo , Dermoscopia , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
Sclerodermatous graft-versus-host disease (GvHD) is one of the many clinicopathological variants of chronic GvHD. One of the rarest forms of this variant is GvHD-associated angiomatosis (GvHD-AA). We describe the case of a 62-year-old male with sclerodermatous GvHD who presented, in consecutive years, two different lesions that showed characteristics of GvHD-AA. The first lesion fitted perfectly with the previously known features of this rare entity. However, the second lesion was more interesting, as the angiomatoid lesion was surrounded by newly appeared adipocytes, something not previously described. The appearance of this peculiar adipose tissue may be explained as related to an important dermal atrophy, as a concomitant appearance of a lipomatous nevus and GvHD-AA, or, finally, as mature adipose tissue related to a previous inflammatory process, that is, lipomatous metaplasia. Both lesions were diagnosed as GvHD-AA, and the second one was considered to be associated with dermal lipomatous metaplasia. We also considered whether hypoxia could be related to both lesions. In the present report, we review previously published cases of GvHD-AA and discuss the different hypotheses that could explain the appearance of metaplasia associated with the second lesion.
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Angiomatose/patologia , Doença Enxerto-Hospedeiro/patologia , Lipomatose/patologia , Pele/patologia , Transplante de Medula Óssea/efeitos adversos , Humanos , Masculino , Metaplasia/patologia , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Cystic angiomatosis is a rare benign disease manifesting as multiple lytic and sclerotic bone lesions, described as the proliferation of vascular and lymphatic channels lined by a single layer of endothelial cells. However, the potential pathogenetic mechanism of the disease still remains unknown. Here, we reported a case of cystic angiomatosis with multifocal bone lesion evaluated by whole exome sequencing. CASE DESCRIPTION: In this presentation, we reported a case of an 11-year-old boy with pain in his chest. Computed tomography (CT) revealed the multiple lytic of the bone in the ribs, clavicle, vertebra thoracalis, skull, mandibula, shoulder blade, etc. The blood test showed ALP to be 393U/L and VEGF to be 287.26 pg/ml. The patient was performed with an open biopsy in the ribs and was diagnosed with cystic angiomatosis. Besides, the whole exome sequencing reported the single-nucleotide substitutions in the coding region of BRIP1, CHEK2, GRM4, and MUC16. Then, the upregulated genes involved CASC15, CENPF, ABCA13, ALK, BLM, and FGFR3. CONCLUSIONS: In this article, we report a rare case of cystic angiomatosis in a child with abnormal VEGF and ALP reported by peripheral blood examination. The whole exome sequencing could provide the reference for the potential molecular mechanism in the diagnosis and treatment of cystic angiomatosis.
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Células Endoteliais , Fator A de Crescimento do Endotélio Vascular , Criança , Humanos , Fator A de Crescimento do Endotélio Vascular/genéticaRESUMO
Sturge-Weber syndrome (SWS) is a sporadic congenital neuro-cutaneous anomaly with capillary-venous malformation involving the brain, eye, and the ophthalmic division of the trigeminal nerve. In these cases, physiological changes in pregnancy, including hormonal and hemodynamic changes, may predispose to increased seizure frequency and even a life-threatening intracranial haemorrhage. There are only few case reports available about the management of women with pregnancy and SWS. We report two patients with SWS diagnosed in childhood and managed during pregnancy and reviewed the outcomes and complications during pregnancy in women with this disorder.
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Mancha Vinho do Porto , Síndrome de Sturge-Weber , Malformações Vasculares , Encéfalo , Face , Feminino , Humanos , Mancha Vinho do Porto/complicações , Gravidez , Síndrome de Sturge-Weber/complicações , Síndrome de Sturge-Weber/diagnóstico , Síndrome de Sturge-Weber/terapia , Malformações Vasculares/complicaçõesRESUMO
We studied retrospectively 651 PCR-confirmed Bartonella infections diagnosed at the French reference center for bartonellosis from 2014 to 2019. The most common form was cat-scratch disease (89%) followed by endocarditis (9%). Disseminated forms (2%) mainly presented as bacillary angiomatosis or peliosis hepatis in solid organ transplant recipients.
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Bartonella henselae/fisiologia , Doença da Arranhadura de Gato/microbiologia , Adulto , Idoso , Bartonella henselae/genética , Bartonella henselae/isolamento & purificação , Doença da Arranhadura de Gato/diagnóstico , Doença da Arranhadura de Gato/imunologia , Feminino , França , Humanos , Hospedeiro Imunocomprometido , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Estudos Retrospectivos , Adulto JovemRESUMO
Bacillary angiomatosis (BA) is an uncommon systemic disease caused by Bartonella henselae (BH) or Bartonella quintana (BQ) that occurs primarily in immunocompromised hosts. Few cases of BA recipients have been reported in adult solid transplant recipients over the years, with most cases presenting years after transplant. We describe a case of a kidney transplant recipient who developed cutaneous BA very early in the post-transplant period despite not having any exposures. Retrospective testing of donor and recipient's serum was performed and raised the concern for possible donor-derived infection. A literature review encompassing 1990 to present was also performed in order to better understand the clinical presentation, diagnostics and therapeutic approach of this unusual disease. Combined serology, histopathology and molecular testing (polymerase chain reaction [PCR]) were useful in diagnosing BA in our patient as serology alone might be unreliable. Macrolides or doxycycline for at least 3 months is the recommended therapeutic strategy; however, the optimal duration of treatment is not well established in transplant recipients. In our patient, we decided to use doxycycline for 1 year due to gradual resolution of lesions and ongoing immunosuppression. Patient responded successfully without any documented relapse.
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Angiomatose Bacilar , Bartonella henselae , Bartonella quintana , Adulto , Angiomatose Bacilar/diagnóstico , Angiomatose Bacilar/tratamento farmacológico , Humanos , Rim , Estudos RetrospectivosRESUMO
Erythema ab igne is an uncommon physical dermatosis that presents with localized patches of reticulated erythema and hyperpigmentation corresponding with the underlying dermal venous plexus. The rash occurs in response to chronic heat exposure that does not meet the threshold for thermal burn of the skin. The histopathologic findings are characterized by atrophy and thinning of the epidermis, focal hyperkeratosis, and keratinocyte atypia. The dermis displays dilated capillaries, evidence of pigment incontinence, and prominent elastotic material. We report a case of a 65-year-old male who presented to his primary care physician with a 1-year history of reticular erythema and hyperpigmentation with focal ulceration on his right lateral leg. Histopathology on biopsy revealed mild hyperkeratosis and focal epidermal atrophy; however, the most striking finding was a proliferation of dermal vascular spaces lined by pleomorphic endothelial cells and numerous mitotic figures, which was morphologically compatible with angiosarcoma. However, clinicopathologic correlation and immunostaining revealed an actual diagnosis of erythema ab igne with reactive angiomatosis. Reactive angiomatosis-morphologically mimicking angiosarcoma-is a rarely reported feature of severe erythema ab igne, and dermatopathologists should be aware of this possibility to avoid misdiagnosis of erythema ab igne as angiosarcoma.
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Angiomatose/diagnóstico , Angiomatose/patologia , Eritema Ab Igne/diagnóstico , Eritema Ab Igne/patologia , Hemangiossarcoma/diagnóstico , Idoso , Diagnóstico Diferencial , Hemangiossarcoma/patologia , Humanos , Masculino , Pele/patologiaRESUMO
This review reports the recent advances in surface-enhanced Raman scattering (SERS)-based lateral flow assay (LFA) platforms for the diagnosis of infectious diseases. As observed through the recent infection outbreaks of COVID-19 worldwide, a timely diagnosis of the disease is critical for preventing the spread of a disease and to ensure epidemic preparedness. In this regard, an innovative point-of-care diagnostic method is essential. Recently, SERS-based assay platforms have received increasing attention in medical communities owing to their high sensitivity and multiplex detection capability. In contrast, LFAs provide a user-friendly and easily accessible sensing platform. Thus, the combination of LFAs with a SERS detection system provides a new diagnostic modality for accurate and rapid diagnoses of infectious diseases. In this context, we briefly discuss the recent application of LFA platforms for the POC diagnosis of SARS-CoV-2. Thereafter, we focus on the recent advances in SERS-based LFA platforms for the early diagnosis of infectious diseases and their applicability for the rapid diagnosis of SARS-CoV-2. Finally, the key issues that need to be addressed to accelerate the clinical translation of SERS-based LFA platforms from the research laboratory to the bedside are discussed.
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In disease, blood vessel proliferation has many salient roles including in inflammation, when granulation tissue fills superficial defects, or in the recanalization of an occluded blood vessel. Sometimes angiogenesis goes awry-granulation can be exuberant, and plexiform proliferation of vascular components can contribute to pulmonary hypertension. This review focuses on the diverse manifestations of pathologic vascular overgrowth that occur in the brain, spinal cord, and meninges of animals from birth until old age. Entities discussed include systemic reactive angioendotheliomatosis in which glomeruloid vascular proliferations are encountered in various organs including the central nervous system (CNS). The triad of CNS vascular malformations, hamartomas, and benign vascular proliferations are an especially fraught category in which terminology overlap and the microscopic similarity of various disorders makes diagnostic classification incredibly challenging. Pathologists commonly take refuge in "CNS vascular hamartoma" despite the lack of any unique histopathologic features and we recommend that this diagnostic category be abandoned. Malformative lesions that are often confusing and have similar features; the conditions include arteriovenous malformation, cavernous angioma, venous angioma, and capillary telangiectases. Meningioangiomatosis, a benign meningovascular proliferation with dual components, is a unique entity seen most commonly in young dogs. Last, accepted neoplastic conditions range from lower-grade locally acquired growths like hemangioblastoma (a tumor of mysterious interstitial stromal cells encountered in the setting of abundant capillary vasculature proliferation), the rare hemangioendothelioma, and the highly malignant and invariably multifocal metastatic hemangiosarcoma. Additionally, this review draws on the comparative medical literature for further insights into this problematic topic in pathology.
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Doenças do Cão , Hemangioendotelioma , Hemangioma , Hemangiossarcoma , Neoplasias Cutâneas , Animais , Sistema Nervoso Central , Doenças do Cão/diagnóstico , Cães , Hemangioendotelioma/veterinária , Hemangioma/veterinária , Hemangiossarcoma/veterinária , Neoplasias Cutâneas/veterináriaRESUMO
AIM: Angiomatosis of soft tissue (AST) is a rare, high-flow, intramuscular vascular anomaly. In the context of PTEN hamartoma tumour syndrome (PHTS), this AST is referred to as PTEN hamartoma of soft tissue. Given that AST is observed in patients with no history of PHTS, we hypothesised that non-syndromic AST arises as a consequence of a somatic mutation. METHODS AND RESULTS: Thirteen patients with histologically confirmed AST were retrospectively studied. Details of the patients' personal and family medical histories and symptoms were retrieved from their medical records. The histological analyses were reviewed and a tissue sample was used for genetic testing. Somatic mutations in the PIK3CA gene (p.Glu542Lys; p.Glu545Lys; p.His1047Arg) were identified in the tissue samples from seven patients, all of whom had unremarkable medical histories and had presented with a single lesion located in the lower limb. Five pathogenic variations in the PTEN gene (mutations: p.Lys263Arg; c.1026+2T>A; p.Ala126Thr; p.Leu108Arg; deletion, log ratio -0.55) were identified in the lesions of four patients; two of the latter had multifocal lesions. All four patients displayed macrocephaly, three boys presented with penile freckles, but none had a family history of PHTS. There were no histological differences between the PIK3CA and PTEN groups. CONCLUSIONS: AST can be related to either PTEN or PIK3CA mutations and may be multifocal in PHTS. AST appears to be a manifestation of PHTS that occurs in early childhood. The patient's medical history and clinical presentation should prompt the physician to perform specific genetic testing.
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Angiomatose/genética , Angiomatose/patologia , Classe I de Fosfatidilinositol 3-Quinases/genética , Adolescente , Braço , Criança , Pré-Escolar , Feminino , Síndrome do Hamartoma Múltiplo/genética , Humanos , Lactente , Perna (Membro) , Masculino , Mutação , PTEN Fosfo-Hidrolase/genética , Estudos RetrospectivosRESUMO
BACKGROUND: Sturge-Weber syndrome (SWS) is primarily diagnosed in pediatric population, but clinical presentation in late adulthood is rarely reported. Evolution of radiological findings in the adulthood variant of SWS with isolated leptomeningeal angiomatosis has never been reported to our knowledge. CASE PRESENTATION: We report here a case of an isolated temporo-parieto-occipital leptomeningeal angiomatosis on the right cerebral hemisphere in a sixty-two-year-old male who presented with generalized seizure, GCS score 14/15 (E4 V4 M6) with equal and reacting pupils, psychomotor slowing, left hemineglect and grade 4 power in the left upper and lower limbs. Over a period of 48 h his neurological status deteriorated, but recovered spontaneously over a week on titration with anticonvulsants. He had a prior history of treatment for focal leptomeningitis, three years ago. Cerebrospinal fluid (CSF) analysis showed glucose of 75 mg/dL, proteins of 65 mg/dL and culture grew no organisms. On follow-up, he had intermittent episodes of focal seizure for two years. Initial, computed tomography of brain showed hyperdense lesion in the parieto-occipital convexity subarachnoid space on the right cerebral hemisphere mimicking subarachnoid hemorrhage and computed tomography angiography showed no significant abnormality. Magnetic resonance imaging (MRI) of brain showed intense pial enhancement in the right temporo-parieto-occipital region with a subtle T2W hyperintense signal in the underlying subcortical white matter without edema or infarct or mass effect. Digital subtraction cerebral angiography (DSA) showed hypertrophy of the cerebral arteries, arteriolo-capillary bed and venules in the right temporo-parieto-occipital territory associated with early arterio-capillary and venous opacification. Serial MRI done after six months, one and two years showed increase in the T2W hyperintense signal in the subcortical white matter and cortical atrophy with no changes in the pial enhancement. MR perfusion imaging showed reduced cerebral blood flow (CBF) and cerebral blood volume (CBV) in the right parieto-temporo-occipital cortical and subcortical regions and increased perfusion in the leptomeninges with reduction of the NAA / Cr ratios in spectroscopy. CONCLUSION: Conglomeration of various radiological findings in MRI, Perfusion, MRS and DSA with the clinical presentation can aid in establishing the diagnosis of this rare presentation of SWS-type 3 variant in late adulthood.
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Angiografia Digital/métodos , Encefalopatias/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Neuroimagem/métodos , Síndrome de Sturge-Weber/diagnóstico por imagem , Angiomatose/diagnóstico por imagem , Angiomatose/patologia , Encefalopatias/patologia , Humanos , Masculino , Meninges/diagnóstico por imagem , Meninges/patologia , Pessoa de Meia-Idade , Síndrome de Sturge-Weber/patologiaRESUMO
BACKGROUND: Children with forehead port-wine stains (PWSs) are at risk of Sturge-Weber syndrome (SWS). However, most will not develop neurologic manifestations. OBJECTIVE: To identify children at greatest risk of SWS. METHOD: In this retrospective cohort study of children with a forehead PWS, PWSs were classified as "large segmental" (half or more of a contiguous area of the hemiforehead or median pattern) or "trace/small segmental" (less than half of the hemiforehead). The outcome measure was a diagnosis of SWS. RESULTS: Ninety-six children had a forehead PWS. Fifty-one had a large segmental PWS, and 45 had a trace/small segmental PWS. All 21 children with SWS had large segmental forehead PWSs. Large segmental forehead PWSs had a higher specificity (0.71 vs 0.27, P < .0001) and a higher positive predictive value (0.41 vs 0.22, P < .0001) for SWS than any forehead involvement by a PWS. LIMITATIONS: Retrospective study at a referral center. CONCLUSION: Children with large segmental forehead PWSs are at highest risk of SWS.
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Dermatoses Faciais/etiologia , Testa/patologia , Mancha Vinho do Porto/etiologia , Síndrome de Sturge-Weber/complicações , Bochecha/patologia , Criança , Pré-Escolar , Dermatoses Faciais/patologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Neuroimagem , Especificidade de Órgãos , Paresia/diagnóstico por imagem , Paresia/etiologia , Mancha Vinho do Porto/patologia , Estudos Retrospectivos , Risco , Convulsões/diagnóstico por imagem , Convulsões/etiologia , Síndrome de Sturge-Weber/diagnóstico , Síndrome de Sturge-Weber/diagnóstico por imagem , Síndrome de Sturge-Weber/epidemiologiaRESUMO
BACKGROUND: Although diffuse dermal angiomatosis (DDA), a rare acquired reactive cutaneous vascular disorder, has been previously reported in association with calciphylaxis (CP), the clinical significance of this relationship has not yet been elucidated. METHODS: A total of 24 cases of CP diagnosed from 2013 to 2018 were retrospectively reviewed for the presence of associated DDA. Pertinent clinical information for each patient was also collected, and statistical analysis was performed using multivariable logistic regression, Student t test and Fisher exact test. RESULTS: African American race and comorbid congestive heart failure were the only variables that demonstrated independent, statistically significant association with the presence of DDA. End-stage renal failure, diabetes mellitus, immunosuppressive and hypercoagulable states, arrhythmia, body mass index, hypertension, coronary artery disease, patient age, duration of CP symptoms, gender, time interval from biopsy to death, anticoagulation therapy and sodium thiosulfate administration at the time of biopsy did not demonstrate a statistically significant association with DDA. CONCLUSION: DDA does not appear to be associated with disease severity or prognosis in cases of CP; however, in our population CP with concurrent DDA was more prevalent in African Americans and individuals with congestive heart failure.
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Angiomatose , Negro ou Afro-Americano , Calciofilaxia , Derme , Insuficiência Cardíaca , Dermatopatias Vasculares , Idoso , Angiomatose/etnologia , Angiomatose/metabolismo , Angiomatose/patologia , Calciofilaxia/etnologia , Calciofilaxia/metabolismo , Calciofilaxia/patologia , Derme/metabolismo , Derme/patologia , Feminino , Insuficiência Cardíaca/etnologia , Insuficiência Cardíaca/metabolismo , Insuficiência Cardíaca/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Dermatopatias Vasculares/etnologia , Dermatopatias Vasculares/metabolismo , Dermatopatias Vasculares/patologiaRESUMO
We describe a unique case of skeletal and extraskeletal angiomatosis complicated by Kasabach-Merritt syndrome. The patient was a 3-year-old boy, who presented with involvement of both femurs and left tibia, as well as with soft tissue lesions of the left thigh. At birth, multiple hemangiomas of the soft tissues of the frontal and parietal scalp had been identified, together with a space-occupying lesion of the lung. Histologically, the skeletal and soft tissue lesions consisted of a proliferation of thin-walled, dilated blood vessels, with an endothelial lining devoid of atypia and exhibiting immunoreactivity for CD31 and CD34, while podoplanin and GLUT1 were negative. Whole exome sequencing performed on samples from the lesion of the femur, the tibia and the skin of the thigh, showed a GNAQ (c.286A>T:p.T96S) variant in all specimens, that was confirmed with digital droplet PCR. This case expands the clinical and pathologic spectrum of vascular proliferations showing similar molecular biology, characterized by GNAQ, GNA11 or GNA14 mutations.