Benign Vascular Anomalies Research Articles

Sudden death in a child caused by a giant cavernous hemangioma of the anterior mediastinum

A 4-year-old girl who had been treated for asthma since the age of 2 years had a severe coughing fit and died suddenly. The patient had a history of occasional severe coughing fits, and these fits had been worsening in severity during the week before her death. Prior to death, she was taken to a clinician, and thymic hypertrophy was suspected based on chest X-ray findings. The clinician recommended that she visit a general hospital at a later date; however, she died that night. Postmortem radiology and autopsy revealed a large mass in the anterior mediastinum compressing the heart and airway, and no other findings attributable to sudden death were observed. Therefore, we concluded that the patient's death was attributable to acute respiratory and cardiac circulatory failure secondary to the pressure induced by the mass. Microscopically, the mass showed a cavernous structure composed of cystically dilated, thin-walled large vessels filled with blood. The final diagnosis was a cavernous hemangioma. Hemangiomas are the most common benign vascular anomalies seen in young children; however, mediastinal hemangiomas are rare and can cause life-threatening complications because of their size and location. Therefore, forensic pathologists should include hemangioma as a differential diagnosis in children with anterior mediastinal masses.

Enhanced expression of Programmed cell death 1 (PD-1) protein in benign vascular anomalies

Programmed cell death 1 (PD-1) and its ligands have been shown to play a significant role in evasion of malignant tumour cells from the immune system. Last year, the United States Food and Drug Administration (FDA) approved anti-PD-1 inhibitors for treatment of non-small cell lung carcinoma and recently has approved anti-PD-L1 blocker for treatment of metastatic urothelial cell carcinoma. However, the role that the immune system might have on benign tumours including vascular anomalies has received less attention. In this study, we evaluated PD-1 and PD-L1 expression on two benign vascular anomalies: infantile haemangiomas and venous malformations. Tissue microarrays (TMAs) from these two entities were stained for PD-1 and PD-L1 antibodies. Blood vessels from normal tissue were used as control. The endothelial cells in both infantile haemangioma and venous malformation showed high expression of PD-1 but were negative for PD-L1. Endothelial cells within the blood vessels in normal tissues were negative for both PD-1 and PD-L1. Our results showed over-expression of PD-1 in subsets of vascular anomalies, while PD-L1 was negative. This would raise the possibility of immunotherapy in benign vascular tumour when other options are exhausted.

Synchronous ipsilateral cavernous malformations of the trochlear nerve

BackgroundCranial nerve cavernous malformations (CM) are rare benign congenital vascular anomalies, with approximately 44 preceding cases in the literature. We report the fifth case of trochlear CM, as well as the first instance of two discrete CM occurring simultaneously along the same cranial nerve. MethodsCase report. ResultsA fifty-seven year-old man presented with several years of diplopia; physical examination identified a complete left trochlear nerve paralysis. MRI revealed a 1cm enhancing lesion within the left ambient cistern, and the patient underwent left pretemporal transcavernous resection. Intraoperatively, a second, discrete CM of the trochlear nerve was also discovered; wide excision of the intrinsic trochlear lesions was completed, allowing both tumors to be removed en bloc with negative margins. Pathologic analysis confirmed both to be CM of the trochlear nerve. The patient recovered with a persistent left trochlear paralysis only, and follow-up MRI was negative for residual or recurrent disease. ConclusionCranial nerve CM are rare but potentially morbid mass lesions, with the capacity to precipitate significant neuropathies. Differential diagnosis includes schwannoma and hemangioblastoma. Definitive diagnosis may not be possible preoperatively; however, resection is recommended in symptomatic patients, potentially accompanied by nerve repair.

Bier Spots on the Face: The First Case Report

Bier Spots are small, light, irregular, hypopigmented and transient macules, usually found on the upper and lower extremities of young adults, in which the intervening skin may seem ertyhematous but blanches with pressure so that these light macules disappear. This is a benign physiologic vascular anomaly of no clinical significance. We present, the case of a 33-year-old man with Bier spots on face associated with insomnia, alopecia areata, epilepsy, and deep venous thrombosis. To the best of our knowledge, this is the first case report that presented with Bier spots on the face

Clinical characteristics of prenatally diagnosed persistent left superior vena cava in low-risk pregnancies.

ObjectiveTo determine the incidence and clinical characteristics of persistent left superior vena cava (PLSVC) among low‐risk pregnancies. We have also compared electrocardiography (ECG) parameters of infants with PLSVC with those of normal controls.MethodAt our institute, fetal echocardiogram is routinely performed in the midtrimester. We retrospectively reviewed the records of prenatally diagnosed PLSVC cases from 2010 to 2014. The ECG findings in infants with isolated PLSVC were compared with those of age‐matched controls.ResultsSixty‐five cases of fetal PLSVC were detected during the study period. It represents 0.36% (65/18 188) of all fetal echocardiographic examinations during the study period. Twenty cases (30.8%) had other cardiac anomalies, seven cases (10.8%) were associated with extracardiac anomalies, and four cases (6.2%) had both cardiac and extracardiac anomalies, whereas in 34 cases (52.3%), the anomaly was isolated. There were no significant differences in ECG parameters between neonates with PLSVC and normal controls.ConclusionDetection of PLSVC should prompt careful search for associated anomalies. Isolated PLSVC is a benign vascular anomaly and the outcomes are excellent. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

Guidelines for Performing Dermatologic Ultrasound Examinations by the DERMUS Group.

To support standardization for performing dermatologic ultrasound examinations. An international working group, called DERMUS (Dermatologic Ultrasound), was formed, composed of physicians who have been working on a regular basis and publishing in peer-reviewed articles on dermatologic ultrasound. A questionnaire on 5 critical issues about performance of the examinations was prepared and distributed by e-mail. The areas of discussion included technical aspects, main areas of application, minimum number of examinations per year required for assessing competence, qualifications of the personnel in charge of the examination, and organization of courses. Final recommendations were approved on the basis of the agreement of more than 50% of the members. The minimum frequency recommended for performing dermatologic examinations was 15 MHz. Routine use of color Doppler ultrasound and the performance of spectral curve analysis for assessing the main vascularity of lesions were suggested. Three-dimensional reconstructions were considered optional. The main dermatologic applications were benign tumors, skin cancer, vascular anomalies, cosmetic field, nail disorders, and inflammatory diseases. The minimum number of examinations per year suggested by the group for assessing competence was 300. A physician and not a sonographer was recommended to be the person in charge of performing the examination. On course organization, a minimum of 2 levels of complexity (basic and advanced) was suggested. There is a need to standardize the performance and quality of dermatologic ultrasound examinations. The present guidelines written by an international group of specialists in the field may support this objective.

Cutis marmorata telangiectatica congenita restricted to both breasts in a young female.

Cutis marmorata telangiectatica congenita (CMTC) is a very rarely occurring congenital disorder with persistent cutis marmorata, telangiectasia, and phlebectasia. This disorder may be associated with cutaneous atrophy and ulceration of the involved skin. We herewith report a 20-year-old female patient with CMTC since childhood along with ulcerations on both breasts. CMTC is a benign vascular anomaly presenting with dilatation of capillaries and veins of dermis and is apparent at birth. The patient had reticulated bluish-purple skin changes over both breasts. Although it resembled physiological cutis marmorata, it was more pronounced and definitely was unvarying and permanent in pattern. A variety of vascular malformations have been described along with this disorder. Etiology is not very clear; it may be multifactorial in origin. Prognosis in uncomplicated cases is good.

A dermoscope allowing the use of surgical light as illumination.

Cutis marmorata telangiectatica congenita (CMTC) is a very rarely occurring congenital disorder with persistent cutis marmorata, telangiectasia, and phlebectasia. This disorder may be associated with cutaneous atrophy and ulceration of the involved skin. We herewith report a 20-year-old female patient with CMTC since childhood along with ulcerations on both breasts. CMTC is a benign vascular anomaly presenting with dilatation of capillaries and veins of dermis and is apparent at birth. The patient had reticulated bluish-purple skin changes over both breasts. Although it resembled physiological cutis marmorata, it was more pronounced and definitely was unvarying and permanent in pattern. A variety of vascular malformations have been described along with this disorder. Etiology is not very clear; it may be multifactorial in origin. Prognosis in uncomplicated cases is good.  

Fetal persistent left superior vena cava in cases with and without chromosomal anomalies

The objectives of this study are to determine and compare the prevalence of persistent left superior vena cava (PLSVC) in chromosomally normal and abnormal fetuses and to evaluate the potential of PLSVC as a screening marker for chromosomal abnormalities. Women undergoing routine fetal sonographic examinations were evaluated once for the presence of PLSVC. PLSVC was diagnosed on the basis of the identification of an additional vessel in the left of the pulmonary artery in a three-vessel trachea view. Associated abnormalities, karyotypes, and outcomes were analyzed. A total of 164 (0.7%, 164/25 171) cases of PLSVC were detected and successfully followed-up. The detection rates were 0.5% (81/17 535) and 1.1% (83/7636) in the low-risk and high-risk cases, respectively. The incidence of PLSVC was lower among the chromosomally or clinically normal (0.4%, 110/24 914) compared with chromosomally abnormal fetuses (7.8%, 20/257, p < 0.001). Additional defects were identified in 90% (18/20) of the PLSVC fetuses with chromosomal anomalies, a rate that was higher than those fetuses with chromosomal normal (61.8%, 68/110). Persistent left superior vena cava is more common among chromosomally abnormal than normal fetuses, and PLSVC fetuses with other defects are more highly associated with chromosomal disorders than isolated PLSVC fetuses. Isolated PLSVC is a benign vascular anomaly and may not affect outcomes.

Oral capillary hemangioma: A clinical protocol of diagnosis and treatment in adults

Hemangiomas are benign vascular anomalies characterized by benign proliferation of blood vessels. There are no well-defined criteria for the diagnosis and treatment of oral capillary hemangioma (OCH). The objective of this study is to report a safe, effective, and low-cost protocol for diagnosis and treatment of OCH. Eight patients were diagnosed with OCH, through two physical examination maneuvers-the diascopy and head lowering maneuver with abdominal compression (HLMAC). The treatment performed was sclerotherapy with ethanolamine oleate, weekly, until the disappearance of the lesion. No local anesthetics were administered prior to the sclerosing agent injection. All cases showed a complete remission of the lesions after sclerotherapy. There were no visible scars or compromise esthetics or normal function, and there was no evidence of recurrence. Only one patient had superficial ulceration, which remained asymptomatic and healed without specific treatment. This protocol was effective in the diagnosis of OCH through two physical examination maneuvers with low-cost and easy implementation, the diascopy and the HLMAC. The low concentration associated with a reduced amount of the sclerosing agent was responsible for the excellent results in the cases treated.

Simultaneous vitreous hemorrhage and branch retinal artery occlusion after prepapillary arterial loop rupture

Prepapillary arterial loops are rare benign congenital vascular anomalies that may be complicated by vitreous hemorrhage and branch retinal artery occlusion (BRAO). We describe the first case in the literature of simultaneous occurrence of both these complications in the same eye of a patient with a bilateral prepapillary arterial loop, successfully treated with vitrectomy.

Cutis marmorata telangiectatica congenita

Cutis Marmarata Telangiectatica is a benign vascular anomaly that manifests as dilatation of superficial capilllaries and veins usually present at birth.

Gefäßanomalie der Iris

A 48-year-old man presented with a vascular anomaly of the iris in the left eye. Slit-lamp microscopy revealed dilated and tortuous vessels of the iris between 12 and 4 o'clock. Fluorescein angiography confirmed a diagnosis of arteriovenous (AV) malformation of the iris. The vessel originated at the iris base, passed to the pupillary margin and returned to the base. Such AV-malformations of the iris are very rare, benign vascular anomalies that have to be distinguished from other, potentially malignant pathologies of the iris (e. g. tortuous vessels in iris melanoma).

Epithelioid hemangioma of the penis: case report and review of literature

IntroductionEpithelioid hemangioma is a rare vascular tumor found in the penis. It is essential to avoid misdiagnosis with Peyronie's disease and penile cancer, as management differs significantly.Case presentationWe present a case of epithelioid hemangioma of the penis in a 50-year-old Caucasian man. We also review the literature to evaluate the incidence of benign vascular anomalies of the penis and their management.ConclusionsEpithelioid hemangioma of the penis should be considered in the differential diagnosis of patients presenting with painful penile lumps. A thorough histological and immunohistochemical examination is required to make the diagnosis. Optimal management is complete local excision and periodic physical examination for local recurrence.

Cutis marmorata telangiectatica congenita with skin ulcerations in a new born.

Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital disorder with persistent cutis marmorata, telengiectasia, and phlebectesia, which may be associated with cutaneaus atrophy and ulceration of the involved skin. We herewith report a full-term newborn female baby with CMTC at birth with ulceration over the extensor aspects of both the knee joints and right elbow joint. CMTC is a benign vascular anomaly representing dilatation of capillaries and veins of dermis and is apparent at birth. The baby had a reticulated bluish purple skin changes all over the body including the face and limb. Although it resembled physiological cutis marmorata, it was strikingly pronounced and definitely was unvarying and permanent. A variety of vascular malformation has been described along with this disorder. Etiology is not very clear and may be multifactorial, teratogens and genes are also been suggested. Prognoses in uncomplicated cases are good.

Cardiac defibrillator implantation via persistent left superior vena cava facilitated by a coronary sinus delivery system

Persistent left superior vena cava (PLSVC) is a benign vascular anomaly that complicates pacemaker or implantable cardioverter defibrillator (ICD) lead implantation. Thus far, right ventricular lead implantation via PLSVC has been mostly accomplished by forming a U-shaped stylet, necessitating considerable manoeuvring depending on the heart size and geometry. In this article we report a technique of ICD lead implantation via PLSVC, using a coronary sinus delivery system as used today in cardiac resynchronization therapy.

Benign vascular tumors and tumor-like proliferations

Appropriate nomenclature of benign vascular tumors and tumor-like conditions is problematic due to overlapping histologic features, limited understanding of the pathogenesis, and controversy regarding classification. Benign vascular anomalies are categorized into malformations, neoplasms, reactive proliferations, or ectasias based on their clinical behavior, currently accepted etiologies, and histopathology. We address controversies in the classification of some entities and also discuss recent immunohistochemical developments that have raised questions regarding the origin of certain vascular tumors. This comprehensive review focuses on the clinical presentation, behavior, associated conditions, histopathological findings, and differential diagnoses of benign vascular tumors and tumor-like conditions.

Hyperattenuating Renal Masses: Etiologies, Pathogenesis, and Imaging Evaluation

Some renal masses have higher attenuation than the surrounding renal parenchyma at computed tomography (CT). Their hyperattenuation is usually the result of proteinaceous fluid or densely packed cells. Most hyperattenuating renal masses are benign hemorrhagic or proteinaceous cysts. However, solid enhancing hyperattenuating renal masses may have malignant as well as benign causes. Possible malignant causes include renal cell carcinoma and lymphoma; benign causes include angiomyolipoma with minimal fat. It is important to identify the cause of a hyperattenuating renal mass so as to avoid unnecessary surgical resection or ablation. CT may be useful for diagnosing benign hyperattenuating renal cysts, hematomas, and vascular anomalies that appear masslike. However, some solid, enhancing, hyperattenuating masses cannot be diagnosed confidently with CT alone: Small (< or = 3-cm-diameter), homogeneously enhancing, hyperattenuating renal masses depicted on CT images may be either benign angiomyolipomas with minimal fat or renal cell carcinomas. Magnetic resonance (MR) imaging may be helpful for differentiating between angiomyolipomas with minimal fat and clear cell renal cell carcinomas; however, differentiation between angiomyolipomas with minimal fat and papillary renal cell carcinomas often is not possible on the basis of MR imaging. In such cases, a percutaneous biopsy may be useful for diagnosis. If the results of MR imaging and percutaneous biopsy are not definitive, surgery is warranted.

Prenatal diagnosis of persistent left superior vena cava and its associated congenital anomalies

To evaluate the associated conditions and the outcome of persistent left superior vena cava (PLSVC) detected in fetal life. This was a retrospective review of all cases of PLSVC detected prenatally between 1998 and 2004 in two tertiary referral centers in Germany. Patient charts, ultrasound video recordings and still frames of all cases were reviewed for associated conditions and outcome. Eighty-two cases of PLSVC were detected in the study period. Thirty-seven cases (45%) were associated with heterotaxy syndromes, 19 (23%) with isolated cardiac malformations, seven (9%) with aneuploidy, six (7%) with complex malformation syndromes and six (7%) with isolated extracardiac malformations. Seven cases (9%) had no associated condition. Eighty-three percent of the fetuses in this series had associated cardiac malformations; the most frequent cardiac malformations in those with heterotaxy syndromes were complete atrioventricular septal defect (75%) and right outflow tract obstruction (58%). After exclusion of cases with heterotaxy, most congenital heart defects were ventricular septal defects (41%) and coarctation (34%). The outcome of PLSVC was determined solely by the associated conditions. After exclusion of terminated cases, heterotaxy syndromes as well as complete atrioventricular septal defects were associated significantly with perinatal and infant death. In contrast, all cases with isolated PLSVC or associated correctable extracardiac malformations survived and were doing well at the time of writing. PLSVC detected in fetal life has to be followed by a meticulous inspection of the fetal anatomy as it is frequently associated with heterotaxy syndromes, other cardiac/non-cardiac malformations and aneuploidy that determine the outcome. Isolated PLSVC is a benign vascular anomaly and may not affect the outcome.

Diffuse Bier spots

A 34-year-old man presented with a 6-month history of hypopigmented macules that were interspersed with blanching erythematous macules on the trunk, upper extremities, and lower extremities. Bier spots are small, hypopigmented macules that are usually found on the arms and legs of young adults. The intervening skin may seem erythematous but blanches with pressure so that the hypopigmented macules disappear. This is a benign vascular anomaly.