Pub Date : 2024-04-12DOI: 10.1097/jova.0000000000000088
Kristy Patel, Sean Schoeman, Anne Marie Cahill
Mitogen-activated protein 2 kinase (MAP2K) intramuscular high-flow vascular anomaly is a benign vascular lesion, thought to be congenital, with an indolent course. Years after initial presentation, symptoms may manifest due to abrupt growth. This report describes a case of a young female who presented with a MAP2K high-flow vascular anomaly with recalcitrant pain, resistant to a trial of Sirolimus and Trametinib. Significant lesion size reduction and pain resolution were achieved with a combination of preablation embolization followed by cryoablation. Follow-up of 5 years informs lesion reduction and stability. Using a multi-method approach (embolization then ablation) can be considered in the treatment of MAP2K high-flow vascular malformations resistant to medical therapy.
{"title":"Large Medically Resistant Intramuscular Fast-Flow Vascular Anomaly in a Young Adult Patient Managed With Embolization and Cryoablation","authors":"Kristy Patel, Sean Schoeman, Anne Marie Cahill","doi":"10.1097/jova.0000000000000088","DOIUrl":"https://doi.org/10.1097/jova.0000000000000088","url":null,"abstract":"\u0000 \u0000 Mitogen-activated protein 2 kinase (MAP2K) intramuscular high-flow vascular anomaly is a benign vascular lesion, thought to be congenital, with an indolent course. Years after initial presentation, symptoms may manifest due to abrupt growth.\u0000 \u0000 \u0000 \u0000 This report describes a case of a young female who presented with a MAP2K high-flow vascular anomaly with recalcitrant pain, resistant to a trial of Sirolimus and Trametinib. Significant lesion size reduction and pain resolution were achieved with a combination of preablation embolization followed by cryoablation. Follow-up of 5 years informs lesion reduction and stability.\u0000 \u0000 \u0000 \u0000 Using a multi-method approach (embolization then ablation) can be considered in the treatment of MAP2K high-flow vascular malformations resistant to medical therapy.\u0000","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"11 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140712343","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-04-12DOI: 10.1097/jova.0000000000000086
Jinia El-Feghaly, Molly Marous, Heidi Bai, M. Cordisco
Infantile hemangioma with minimal or arrested growth (IHMAG) has been established as a subtype of infantile hemangioma (IH) due to positive glucose transporter-1 staining; however, it is clinically differentiated by a proliferative component of <25% of its total surface area. IHMAG can be misdiagnosed as a capillary malformation, an IH precursor, a noninvoluting congenital hemangioma, or an arteriovenous malformation among others. In this case series, we aim to further illustrate the various clinical characteristics of IHMAG and the features that distinguish this unique entity from the other vascular entities. It is important to recognize the differentiating characteristics to avoid unnecessary evaluation and provide patients with the appropriate management plan. A retrospective chart review approved by the University of Rochester Medical Center Institutional Review Board was performed from January 2014 to December 2020, with the search terms: “infantile hemangioma with arrested or minimal growth,” “IHMAG” and “abortive hemangioma.” In total, 29 IHMAGs were identified in 27 patients. Charts were reviewed for demographic and clinical characteristics as well as workup, response to treatment, and outcomes. In total, we identified 29 IHMAGs in 27 patients. Female to male ratio was 2:1. Average gestational age was 40 weeks. Lesions were present at birth in 22/27 patients. Out of the 29 IHMAGs, 18 were focal (62%) and 11 were segmental (38%). In most patients, skin examination revealed fine telangiectatic patches with focal areas of bright red papules. Out of 29 IHMAGs, 20 involved the lower body and 18 were focal, whereas 11 were segmental. PHACES syndrome (posterior fossa anomalies, infantile hemangioma, arterial anomalies, cardiac anomalies, eye anomalies, and midline skin defects) was identified in 2 of 2 patients with facial segmental IHMAGs. LUMBAR syndrome (lower body infantile hemangiomas and other skin defects; urogenital anomalies and ulceration; myelopathy; bony deformities; anorectal malformations and arterial anomalies; and rectal anomalies) was ruled out in 2 of 2 patients with extensive IHMAGs involving the sacral area. Semicircular lipoatrophy was seen in 1 patient with segmental circumferential IHMAG of the leg. Ultrasonography was the most used modality. Out of 27 infants, 18 were treated with topical timolol, 4 were treated with oral propranolol, and 2 patients were treated with a combination of both. Trends of the epidemiologic, clinical, and prognostic data of our 27 cases are in concordance with prior reports on IHMAG, further consolidating our understanding of this peculiar entity. IHMAG typically presents as a telangiectatic pink to violaceous patch present at birth in term newborns predominantly involving the lower half of the body. It is important to keep a high index of suspicion for the other vascular anomalies in the differential diagnosis. A segmental IHMAG should prompt providers to screen for ass
{"title":"Infantile Hemangioma with Minimal or Arrested Growth: Different Clinical Presentations in a Retrospective Case Series","authors":"Jinia El-Feghaly, Molly Marous, Heidi Bai, M. Cordisco","doi":"10.1097/jova.0000000000000086","DOIUrl":"https://doi.org/10.1097/jova.0000000000000086","url":null,"abstract":"\u0000 \u0000 Infantile hemangioma with minimal or arrested growth (IHMAG) has been established as a subtype of infantile hemangioma (IH) due to positive glucose transporter-1 staining; however, it is clinically differentiated by a proliferative component of <25% of its total surface area. IHMAG can be misdiagnosed as a capillary malformation, an IH precursor, a noninvoluting congenital hemangioma, or an arteriovenous malformation among others. In this case series, we aim to further illustrate the various clinical characteristics of IHMAG and the features that distinguish this unique entity from the other vascular entities. It is important to recognize the differentiating characteristics to avoid unnecessary evaluation and provide patients with the appropriate management plan.\u0000 \u0000 \u0000 \u0000 A retrospective chart review approved by the University of Rochester Medical Center Institutional Review Board was performed from January 2014 to December 2020, with the search terms: “infantile hemangioma with arrested or minimal growth,” “IHMAG” and “abortive hemangioma.” In total, 29 IHMAGs were identified in 27 patients. Charts were reviewed for demographic and clinical characteristics as well as workup, response to treatment, and outcomes.\u0000 \u0000 \u0000 \u0000 In total, we identified 29 IHMAGs in 27 patients. Female to male ratio was 2:1. Average gestational age was 40 weeks. Lesions were present at birth in 22/27 patients. Out of the 29 IHMAGs, 18 were focal (62%) and 11 were segmental (38%). In most patients, skin examination revealed fine telangiectatic patches with focal areas of bright red papules. Out of 29 IHMAGs, 20 involved the lower body and 18 were focal, whereas 11 were segmental. PHACES syndrome (posterior fossa anomalies, infantile hemangioma, arterial anomalies, cardiac anomalies, eye anomalies, and midline skin defects) was identified in 2 of 2 patients with facial segmental IHMAGs. LUMBAR syndrome (lower body infantile hemangiomas and other skin defects; urogenital anomalies and ulceration; myelopathy; bony deformities; anorectal malformations and arterial anomalies; and rectal anomalies) was ruled out in 2 of 2 patients with extensive IHMAGs involving the sacral area. Semicircular lipoatrophy was seen in 1 patient with segmental circumferential IHMAG of the leg. Ultrasonography was the most used modality. Out of 27 infants, 18 were treated with topical timolol, 4 were treated with oral propranolol, and 2 patients were treated with a combination of both.\u0000 \u0000 \u0000 \u0000 Trends of the epidemiologic, clinical, and prognostic data of our 27 cases are in concordance with prior reports on IHMAG, further consolidating our understanding of this peculiar entity. IHMAG typically presents as a telangiectatic pink to violaceous patch present at birth in term newborns predominantly involving the lower half of the body. It is important to keep a high index of suspicion for the other vascular anomalies in the differential diagnosis. A segmental IHMAG should prompt providers to screen for ass","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"15 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140711898","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-04-02DOI: 10.1097/jova.0000000000000089
Bryan A. Sisk, Anna M. Kerr, Amy R. Newman, Dandan Chen, Jennifer W. Mack, B. Reeve
We assessed the psychometric properties of the “providing validation” subscale of PedCOM measures for parents of children with vascular anomalies and adult patients. A total of 139 adult patients and 78 parents completed surveys. The mean score for patients was 3.7 (standard deviation 1.0), and for parents was 4.0 (standard deviation 0.9). “Providing validation” measures demonstrated high internal consistency and good model fit to a unidimensional model for both patients and parents using confirmatory factor analysis. The measures also demonstrated convergent validity with co-administered measures. This study demonstrated the validity of “providing validation” measures for parents and adult patients with vascular anomalies.
{"title":"Psychometric Evaluation of the “Providing Validation” Measure in Vascular Anomalies","authors":"Bryan A. Sisk, Anna M. Kerr, Amy R. Newman, Dandan Chen, Jennifer W. Mack, B. Reeve","doi":"10.1097/jova.0000000000000089","DOIUrl":"https://doi.org/10.1097/jova.0000000000000089","url":null,"abstract":"We assessed the psychometric properties of the “providing validation” subscale of PedCOM measures for parents of children with vascular anomalies and adult patients. A total of 139 adult patients and 78 parents completed surveys. The mean score for patients was 3.7 (standard deviation 1.0), and for parents was 4.0 (standard deviation 0.9). “Providing validation” measures demonstrated high internal consistency and good model fit to a unidimensional model for both patients and parents using confirmatory factor analysis. The measures also demonstrated convergent validity with co-administered measures. This study demonstrated the validity of “providing validation” measures for parents and adult patients with vascular anomalies.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"98 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140755328","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-04-01DOI: 10.1097/jova.0000000000000090
Mohammad Sadic, Alexander Hien Vu, Erol Bayraktar, Naomi Strubel, Sheel Sharma, Francine Blei, George Jour, Sandra Tomita
Pediatric neurotrophic tyrosine receptor kinase-rearranged spindle cell neoplasms are soft tissue neoplasms whose behaviors are not well understood. We provide a case presentation of such a tumor sharing features of a vascular malformation. Our patient is an 11-year-old female referred for a lesion clinically and radiologically concerning for a vascular tumor or malformation. Upon excision, next-generation sequencing revealed a laminA-neurotrophic tyrosine receptor kinase 1 fusion. Neurotrophic tyrosine receptor kinase-rearranged spindle cell neoplasms represent an emerging entity in children now being diagnosed with a variety of techniques including immunohistochemistry, fluorescence in situ hybridization, and next-generation sequencing. Consideration for this tumor should be in the differential diagnosis of vascular skin lesions with unusual features on physical examination.
{"title":"Pediatric Neurotrophic Tyrosine Receptor Kinase-rearranged Neoplasm Resembling a Vascular Malformation","authors":"Mohammad Sadic, Alexander Hien Vu, Erol Bayraktar, Naomi Strubel, Sheel Sharma, Francine Blei, George Jour, Sandra Tomita","doi":"10.1097/jova.0000000000000090","DOIUrl":"https://doi.org/10.1097/jova.0000000000000090","url":null,"abstract":"Pediatric neurotrophic tyrosine receptor kinase-rearranged spindle cell neoplasms are soft tissue neoplasms whose behaviors are not well understood. We provide a case presentation of such a tumor sharing features of a vascular malformation. Our patient is an 11-year-old female referred for a lesion clinically and radiologically concerning for a vascular tumor or malformation. Upon excision, next-generation sequencing revealed a laminA-neurotrophic tyrosine receptor kinase 1 fusion. Neurotrophic tyrosine receptor kinase-rearranged spindle cell neoplasms represent an emerging entity in children now being diagnosed with a variety of techniques including immunohistochemistry, fluorescence in situ hybridization, and next-generation sequencing. Consideration for this tumor should be in the differential diagnosis of vascular skin lesions with unusual features on physical examination.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"501 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140782471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-04-01DOI: 10.1097/jova.0000000000000084
Michael Mohnasky, Jeyhan Wood, Elizabeth Nieman, Jennifer Brondon, Kamran Khan, Kyung Rae Kim
Pyogenic granulomas are common, acquired vascular lesions that most often arise spontaneously or in sites of previous trauma. However, there are reports of a few cases that describe a rare condition, congenital disseminated pyogenic granuloma (CDPG), in which an infant either is born with or shortly after birth develops multiple pyogenic granulomas. A hallmark of CDPG is negative staining for glucose transporter 1 (GLUT-1) on immunohistochemistry, which helps distinguish it from the more common multifocal infantile hemangiomas. Because few case reports have described CDPG, much is unknown about its characteristics, clinical course, and most effective treatment options. Here, we present a case of an infant with a unique presentation of CDPG with lesions that are atypically large and growing at a rapid pace. We also describe a novel approach to treating large pyogenic granulomas in CDPG via staged glue embolization and surgical excision.
{"title":"Rapidly Growing Congenital Disseminated Pyogenic Granuloma in the Scalp Treated with Staged Embolization and Excision: A Case Report","authors":"Michael Mohnasky, Jeyhan Wood, Elizabeth Nieman, Jennifer Brondon, Kamran Khan, Kyung Rae Kim","doi":"10.1097/jova.0000000000000084","DOIUrl":"https://doi.org/10.1097/jova.0000000000000084","url":null,"abstract":"Pyogenic granulomas are common, acquired vascular lesions that most often arise spontaneously or in sites of previous trauma. However, there are reports of a few cases that describe a rare condition, congenital disseminated pyogenic granuloma (CDPG), in which an infant either is born with or shortly after birth develops multiple pyogenic granulomas. A hallmark of CDPG is negative staining for glucose transporter 1 (GLUT-1) on immunohistochemistry, which helps distinguish it from the more common multifocal infantile hemangiomas. Because few case reports have described CDPG, much is unknown about its characteristics, clinical course, and most effective treatment options. Here, we present a case of an infant with a unique presentation of CDPG with lesions that are atypically large and growing at a rapid pace. We also describe a novel approach to treating large pyogenic granulomas in CDPG via staged glue embolization and surgical excision.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"122 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140762182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-04-01DOI: 10.1097/jova.0000000000000087
Olivia A. Keane, Carolyn Taylor, Shayla Bergmann
Kaposiform hemangioendothelioma (KHE) is a rare vascular and lymphatic tumor of childhood that commonly presents on the skin and extremities. KHE of the mediastinum affecting the heart and great vessels is extremely rare and often locally aggressive. We describe our case of mediastinal KHE with Kasabach–Merritt phenomenon presenting in a 2-month-old with persistent pericardial effusion and thrombocytopenia in the absence of cutaneous findings. Treatment success was achieved with sirolimus, propranolol, and an initial prednisolone wean.
{"title":"Kaposiform Hemangioendothelioma of the Mediastinum With Kasabach-Merritt Phenomenon Presenting With Pericardial Effusion in a 2-Month-Old","authors":"Olivia A. Keane, Carolyn Taylor, Shayla Bergmann","doi":"10.1097/jova.0000000000000087","DOIUrl":"https://doi.org/10.1097/jova.0000000000000087","url":null,"abstract":"Kaposiform hemangioendothelioma (KHE) is a rare vascular and lymphatic tumor of childhood that commonly presents on the skin and extremities. KHE of the mediastinum affecting the heart and great vessels is extremely rare and often locally aggressive. We describe our case of mediastinal KHE with Kasabach–Merritt phenomenon presenting in a 2-month-old with persistent pericardial effusion and thrombocytopenia in the absence of cutaneous findings. Treatment success was achieved with sirolimus, propranolol, and an initial prednisolone wean.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"49 26","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140788672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-18DOI: 10.1097/jova.0000000000000085
Michael T. Dellinger, T. Ferry, David Williams, Tracy Milne, Louise Murgia, Michael Kelly
Complex lymphatic anomalies (CLAs) are rare diseases with variable clinical manifestations caused by the abnormal development of lymphatic vessels. The Lymphatic Malformation Institute (LMI), Lymphangiomatosis & Gorham’s Disease Alliance (LGDA), and LGD Alliance Europe sponsored an international conference on CLAs so leaders in the field could discuss recent advances in research on CLAs. The conference occurred in Dallas, Texas, between September 29th and September 30th, 2023. The event had 22 distinguished speakers and 38 attendees. Additional researchers, clinicians, and patients attended the conference virtually. In this article, we summarize the key takeaways from the meeting. The conference emphasized the crucial role of the patient voice in guiding research, and attendees heard stories from patients and parents of children with CLAs. The conference covered topics such as the genetic causes of CLAs, preclinical models, clinical advances, new technologies for CLA research, lymphatic imaging, and patient-centered research. Videos of all the presentations can be found on the LGDA website. The meeting revealed that while progress has been made, many challenges still exist surrounding the diagnosis and treatment of CLAs. Sustained research efforts are necessary to fill the gaps in knowledge and improve the care and quality of life of CLA patients.
{"title":"Meeting Report for the 2023 International Scientific Conference on Complex Lymphatic Anomalies","authors":"Michael T. Dellinger, T. Ferry, David Williams, Tracy Milne, Louise Murgia, Michael Kelly","doi":"10.1097/jova.0000000000000085","DOIUrl":"https://doi.org/10.1097/jova.0000000000000085","url":null,"abstract":"\u0000 \u0000 Complex lymphatic anomalies (CLAs) are rare diseases with variable clinical manifestations caused by the abnormal development of lymphatic vessels. The Lymphatic Malformation Institute (LMI), Lymphangiomatosis & Gorham’s Disease Alliance (LGDA), and LGD Alliance Europe sponsored an international conference on CLAs so leaders in the field could discuss recent advances in research on CLAs.\u0000 \u0000 \u0000 \u0000 The conference occurred in Dallas, Texas, between September 29th and September 30th, 2023. The event had 22 distinguished speakers and 38 attendees. Additional researchers, clinicians, and patients attended the conference virtually.\u0000 \u0000 \u0000 \u0000 In this article, we summarize the key takeaways from the meeting. The conference emphasized the crucial role of the patient voice in guiding research, and attendees heard stories from patients and parents of children with CLAs. The conference covered topics such as the genetic causes of CLAs, preclinical models, clinical advances, new technologies for CLA research, lymphatic imaging, and patient-centered research. Videos of all the presentations can be found on the LGDA website.\u0000 \u0000 \u0000 \u0000 The meeting revealed that while progress has been made, many challenges still exist surrounding the diagnosis and treatment of CLAs. Sustained research efforts are necessary to fill the gaps in knowledge and improve the care and quality of life of CLA patients.\u0000","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"157 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140233981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-12DOI: 10.1097/jova.0000000000000080
Bryony Lucas, S. Malay, Irina B. Pateva
Vascular anomalies (VA) are a heterogeneous group of diseases which include vascular malformations and vascular tumors. In the pediatric population, there is a sparsity of data on the frequency of associated hematologic and nonhematologic conditions as well as overall outcomes for patients. The objective of this study was to determine the rate of certain concurrent hematologic and nonhematologic conditions in patients with VA who underwent procedures and compare those to patients who did not undergo procedures. To examine the rates of intensive care unit admissions and discharge mortality in patients who had a vascular anomaly. This is a multicenter retrospective cohort study using data from the Pediatric Health Information System. The database was queried for children 0–18 years old with a diagnosis of a VA who had inpatient encounters between January 2016 and September 2021. The most common hematologic conditions were thrombocytopenia, iron deficiency anemia, and venous thrombosis. The most common nonhematologic condition was electrolyte imbalances. Intensive care unit admissions were highest among patients with other congenital malformations of the peripheral vascular system, cerebral cavernous malformations, and sporadic arteriovenous malformations. Discharge mortality was highest in patients with lymphatic malformations and primary lymphedema. This is the largest database study of pediatric patients with VA and their concurrent medical conditions and outcomes to date. While our study could not prove associations, we hope that our results will serve as a foundation for more extensive research regarding the impact of these identified conditions and outcomes and contribute to improved management of patients with VA.
{"title":"Frequency of Hematologic and Nonhematologic Conditions in Pediatric Patients with Vascular Anomalies: A Pediatric Health Information System Database Study","authors":"Bryony Lucas, S. Malay, Irina B. Pateva","doi":"10.1097/jova.0000000000000080","DOIUrl":"https://doi.org/10.1097/jova.0000000000000080","url":null,"abstract":"\u0000 \u0000 Vascular anomalies (VA) are a heterogeneous group of diseases which include vascular malformations and vascular tumors. In the pediatric population, there is a sparsity of data on the frequency of associated hematologic and nonhematologic conditions as well as overall outcomes for patients.\u0000 \u0000 \u0000 \u0000 The objective of this study was to determine the rate of certain concurrent hematologic and nonhematologic conditions in patients with VA who underwent procedures and compare those to patients who did not undergo procedures. To examine the rates of intensive care unit admissions and discharge mortality in patients who had a vascular anomaly.\u0000 \u0000 \u0000 \u0000 This is a multicenter retrospective cohort study using data from the Pediatric Health Information System. The database was queried for children 0–18 years old with a diagnosis of a VA who had inpatient encounters between January 2016 and September 2021.\u0000 \u0000 \u0000 \u0000 The most common hematologic conditions were thrombocytopenia, iron deficiency anemia, and venous thrombosis. The most common nonhematologic condition was electrolyte imbalances. Intensive care unit admissions were highest among patients with other congenital malformations of the peripheral vascular system, cerebral cavernous malformations, and sporadic arteriovenous malformations. Discharge mortality was highest in patients with lymphatic malformations and primary lymphedema.\u0000 \u0000 \u0000 \u0000 This is the largest database study of pediatric patients with VA and their concurrent medical conditions and outcomes to date. While our study could not prove associations, we hope that our results will serve as a foundation for more extensive research regarding the impact of these identified conditions and outcomes and contribute to improved management of patients with VA.\u0000","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"80 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140250830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-27DOI: 10.1097/jova.0000000000000078
Maya Guhan, E. Lambert, Amir Pezeshkmehr, Tara L. Rosenberg
Salivary gland obstruction can present as unilateral, episodic facial swelling. Vascular malformations as a cause of parotid duct obstruction with associated unilateral cheek swelling and pain are rare. We describe the case of a 16-year-old female with a protracted 2-year history of unilateral facial swelling and pain that was misdiagnosed as recurrent parotitis on computed tomography and sialoendoscopy. Eventually, the 16-year-old female was diagnosed by magnetic resonance imaging to have a microcystic lymphatic malformation of the parotid duct as the cause of her cheek swelling and pain. Afterwards, the patient was referred to undergo interstitial bleomycin sclerotherapy. This case demonstrates a unique microcystic lymphatic malformation producing obstructive symptoms as well as the utility of magnetic resonance imaging for the diagnosis of a patient presenting with recurrent unilateral facial pain and swelling.
{"title":"Parotid Gland Microcystic Lymphatic Malformation Producing Obstructive Symptoms","authors":"Maya Guhan, E. Lambert, Amir Pezeshkmehr, Tara L. Rosenberg","doi":"10.1097/jova.0000000000000078","DOIUrl":"https://doi.org/10.1097/jova.0000000000000078","url":null,"abstract":"\u0000 \u0000 Salivary gland obstruction can present as unilateral, episodic facial swelling. Vascular malformations as a cause of parotid duct obstruction with associated unilateral cheek swelling and pain are rare.\u0000 \u0000 \u0000 \u0000 We describe the case of a 16-year-old female with a protracted 2-year history of unilateral facial swelling and pain that was misdiagnosed as recurrent parotitis on computed tomography and sialoendoscopy. Eventually, the 16-year-old female was diagnosed by magnetic resonance imaging to have a microcystic lymphatic malformation of the parotid duct as the cause of her cheek swelling and pain. Afterwards, the patient was referred to undergo interstitial bleomycin sclerotherapy.\u0000 \u0000 \u0000 \u0000 This case demonstrates a unique microcystic lymphatic malformation producing obstructive symptoms as well as the utility of magnetic resonance imaging for the diagnosis of a patient presenting with recurrent unilateral facial pain and swelling.\u0000","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140426586","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-07DOI: 10.1097/jova.0000000000000082
Lorna Holcroft, Maeve A. Mc Aleer, Alan D. Irvine
Lymphedema is a chronic condition characterized by the accumulation of lymphatic fluid in interstitial and fibro-adipose tissues. Primary lymphedema that arises from intrinsic defects in the lymphatic system is a rare form of lymphedema with a variable age of onset and heterogeneous presentation. Although a number of genetic variants have been identified and matched to corresponding phenotypes, a genetic cause for lymphedema is found in less than 30% of individuals with primary lymphedema. Recently, Michelini et al proposed NOTCH1 as a candidate gene for primary lymphedema, having identified missense variants in NOTCH1 in 7 of 235 patients with primary lymphedema for whom no causative gene had previously been identified. We report the case of a young female who developed bilateral primary lower limb lymphedema and on genetic testing was found to have a previously unreported heterozygous frameshift variant in the NOTCH1 gene predicting loss of function.
{"title":"A Novel Likely Pathogenic Variant in NOTCH1 Associated With Primary Lymphedema","authors":"Lorna Holcroft, Maeve A. Mc Aleer, Alan D. Irvine","doi":"10.1097/jova.0000000000000082","DOIUrl":"https://doi.org/10.1097/jova.0000000000000082","url":null,"abstract":"Lymphedema is a chronic condition characterized by the accumulation of lymphatic fluid in interstitial and fibro-adipose tissues. Primary lymphedema that arises from intrinsic defects in the lymphatic system is a rare form of lymphedema with a variable age of onset and heterogeneous presentation. Although a number of genetic variants have been identified and matched to corresponding phenotypes, a genetic cause for lymphedema is found in less than 30% of individuals with primary lymphedema. Recently, Michelini et al proposed NOTCH1 as a candidate gene for primary lymphedema, having identified missense variants in NOTCH1 in 7 of 235 patients with primary lymphedema for whom no causative gene had previously been identified. We report the case of a young female who developed bilateral primary lower limb lymphedema and on genetic testing was found to have a previously unreported heterozygous frameshift variant in the NOTCH1 gene predicting loss of function.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"30 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139796965","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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