Lymphatic Malformations in Parkes Weber's Syndrome: Retrospective Review of 16 Cases in a Vascular Anomalies Center.

Introduction:  Parkes Weber's syndrome (PWS) is a rare genetic disorder characterized by overgrowth and vascular malformations, primarily affecting the extremities. While PWS is known to be associated with arteriovenous and capillary malformations, the potential involvement of lymphatic malformations (LMs) has not been previously reported. The objective of this study is to investigate the presence of lymphatic anomalies in PWS patients and their role in the development of limb asymmetry.

Successful Sirolimus Treatment for Recurrent Pericardial Effusion in a Large Cervicomediastinal Provisionally Unclassified Vascular Anomaly: A Case Report.

Provisionally unclassified vascular anomalies (PUVA) are a group of diseases with unique characteristics that make them unclassifiable within vascular tumors or malformations. We describe a PUVA as the cause of recurrent pericardial effusion and its response to sirolimus. A 6-year-old girl was referred with a cervicothoracic vascular anomaly, a violaceous, and irregular lesion in the neck and upper chest, diagnosed as "hemangioma".

Activity of a TIE2 inhibitor (rebastinib) in a patient with a life-threatening cervicofacial venous malformation.

Targeted therapy has become the first therapeutic option in many patients with vascular anomalies. A male 28-year-old patient presented a severe cervicofacial venous malformation involving half-lower face, anterior neck, and oral cavity with progression despite multiple previous treatments, with a somatic variant in TEK (endothelial-specific protein receptor tyrosine kinase) (c.2740C>T; p.

Mortality predictive factors in congenital hepatic hemangioma: a case-control study.

Unlabelled: Congenital hepatic hemangiomas (CHHs) are benign vascular tumors whose clinical, histological, and genetic correlation has recently been described in patients with long-term survival, although no mortality risk factors have been identified to date. The aim of this study is to analyze predictors of mortality in patients with CHH. A retrospective single-center case-control study of consecutive CHH patients diagnosed in our institution between 1991 and 2021 was performed, who were classified into two groups according to their survival.

Undergrowth Of First Toe In PiK3CA-Related Overgrowth Spectrum (PROS).

Background: PIK3CA-related overgrowth syndrome (PROS) include a heterogeneous group of disorders characterized by segmental overgrowth secondary to somatic mosaic activating variants in PIK3CA. Segmental undergrowth is more uncommon and has been less studied but pathogenic variants in PIK3CA have also been found. With this in mind, we have noticed a group of patients with PROS that present an undergrowth component associated with their focal overgrowth.

Venous malformations: what do phleboliths tell us in the pediatric population?

Purpose: Phleboliths are often observed within Venous malformations (VM) and frequently indicated as cause of morbidity. The aim of this study is to investigate independent risk factors for phleboliths in a pediatric population and to determine if its presence influences clinical management.

Methods: We retrospectively review data from patients diagnosed with VM in a vascular anomalies center during a 5-year period.

Thoracic venous malformation: a particular form of a visceral variant.

A teenage boy was admitted due to a thoracic mass with previous respiratory infections. The CT scan showed phleboliths in a cystic lesion with large draining channels. He also presented a mild thrombocytosis, elevated fibrinogen and D-dimer.

Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case-series study.

Segmental overgrowth has been widely described in patients with congenital vascular anomalies. However, segmental undergrowth has been poorly characterized, and no large series of patients have been published. We present the clinical and molecular characteristics a cohort of 37 patients with vascular malformations and segmental undergrowth.

Menstrual disorders associated with sirolimus treatment.

Introduction: Sirolimus has become a pillar in the treatment of vascular anomalies due to its inhibition of the mammalian target of rapamycin (mTOR). Adverse effects include metabolic and hematologic disorders among others, although menstrual disorders have not been well described.

Materials And Methods: Retrospective review of patients with vascular anomalies on sirolimus treatment was performed.

Reactivation of Kasabach-Merritt phenomenon in a young adult with a congenital kaposiform hemangioendothelioma.

We present the rare case of a young adult who developed late recurrence of Kasabach-Merritt phenomenon in a congenital kaposiform hemangioendothelioma that had been quiescent since infancy. We postulate that the extensive and infiltrative nature of our patient's tumor, combined with a recent history of direct microtrauma from acupuncture, contributed to the development of this late complication.

Congenital hepatic hemangiomas: Clinical, histologic, and genetic correlation.

Background: The guide for monitoring and treatment of congenital hepatic hemangiomas (CHH) will depend on the subtype and the postnatal clinical behavior. Our aim is to present a series of CHH and characterize its clinical, histologic and genetic correlation, compared to cutaneous congenital hemangiomas (CCH).

Material And Methods: A retrospective review of CHH patients diagnosed between 1991 and 2018 was performed.

Clinical Factors in Trunk Capillary Malformations in the Neonate: When to Suspect Other Associated Malformations? A Case-Control Study.

Introduction:  Capillary malformations (CMs) can be sporadic or syndromic, in association with other underlying venous malformation (VM) or lymphatic malformation (LM). The objective of this study is to describe the clinical patterns in the neonate that allow us to differentiate sporadic CMs from those associated with other vascular malformations.

Materials And Methods:  A case-control study was performed in neonates with CM located in the trunk, followed at our institution between 2008 and 2018.

Alpelisib Treatment for Genital Vascular Malformation in a Patient with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) Syndrome.

Background: Most patients with phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA)-related overgrowth spectrum become symptomatic early in life and need treatment before puberty. Recently, the specific inhibition of PIK3CA pathways has been proposed as a therapeutic option for these patients improving their surgical options and quality of life. Alpelisib, a specific alpha fraction inhibitor, has shown promising results.

Oral Sirolimus: An Option in the Management of Neonates with Life-Threatening Upper Airway Lymphatic Malformations.

Mechanistic target of rapamycin (mTOR) inhibitors are being used off-label showing promising results in patients with vascular anomalies. Children with lymphatic malformations (LMs) involving the airway benefit from sirolimus therapy soon after birth, reducing the need of tracheostomy. Available information about efficacy and side effects in neonates remains poor.

Pancreatic Kaposiform Hemangioendothelioma Not Responding to Sirolimus.

 Kaposiform hemangioendothelioma (KHE) is a vascular tumor frequently associated with Kasabach-Merritt phenomenon (KMP), characterized by severe thrombocytopenia and consumptive coagulopathy. Visceral involvement in KHE is rare. In our recent experience, sirolimus has shown to be an effective treatment in cutaneous KHE, becoming indeed the treatment of choice in KMP.

Hepatocellular Carcinoma: Referral to a Transplantation Unit.

Hepatocellular carcinoma (HCC), although being infrequent, is the second-most common primary hepatic malignancy in children, after hepatoblastoma (HB). The prognosis is very poor. We present our series of children with HCC referred to our transplant unit to be assessed as candidates for liver transplantation (LT).

Sirolimus in the Treatment of Vascular Anomalies.

 mTOR inhibitors are showing promising results in the management of vascular anomalies. Although current controlled trials remain to be completed, many individual experiences are being published. We present our series of children with complex vascular anomalies treated with sirolimus.

Western view of the management of gastroesophageal foreign bodies.

The best modality for foreign body removal has been the subject of much controversy over the years. We have read with great interest the recent article by Souza Aguiar Municipal Hospital, Rio de Janeiro, Brazil, describing their experience with the management of esophageal foreign bodies in children. Non-endoscopic methods of removing foreign bodies (such as a Foley catheter guided or not by fluoroscopy) have been successfully used at this center.