Capillary malformation

OBJECTIVE: Port-wine stains are a kind of dermatological disease of congenital capillary malformation. Based on the biological characteristics of port-wine stains and the advantages of microneedle transdermal administration, we intend to construct a nanodrug co-loaded with rapamycin (RPM), an anti-angiogenesis drug, and photochlor (HPPH), a photosensitizer, and integrate the nanodrug with dissolvable microneedles (MN) to achieve anti-angiogenesis and photodynamic combination therapy for port-wine stains...

BACKGROUND: Approximately 10% of people with hereditary hemorrhagic telangiectasia (HHT) have brain vascular malformations (VMs). Few reports describe de novo brain VM formation. International HHT Guidelines recommend initial brain VM screening upon HHT diagnosis in children but do not address rescreening. We aimed to confirm whether brain VMs can form de novo in patients with HHT. METHODS: The Brain Vascular Malformation Consortium HHT project is a 17-center longitudinal study enrolling patients since 2010...

Capillary malformation (CM), or port wine birthmark, is a cutaneous congenital vascular anomaly that occurs in 0.1%-2% of newborns. Patients with a CM localized on the forehead have an increased risk of developing a neurocutaneous disorder called encephalotrigeminal angiomatosis or Sturge-Weber syndrome (SWS), with complications including seizure, developmental delay, glaucoma, and vision loss. In 2013, a groundbreaking study revealed causative activating somatic mutations in the gene (GNAQ) encoding guanine nucleotide-binding protein Q subunit α (Gαq) in CM and SWS patient tissues...

RASopathies are a heterogeneous group of genetic syndromes caused by germline mutations in a group of genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include neurofibromatosis type 1, Legius syndrome, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, central conducting lymphatic anomaly, and capillary malformation-arteriovenous malformation syndrome. These disorders are grouped together as RASopathies based on our current understanding of the Ras/MAPK pathway...

BACKGROUND: Infantile hemangiomas (IHs) are common benign vascular tumors in infants. Apelin, an endogenous cytokine, is implicated in the angiogenesis of neoplastic diseases. We aimed to explore the association between apelin and IHs, providing a foundation for clinical applications. METHODS: We identified differential expression of apelin in proliferative IHs compared to healthy controls (HCs) through bioinformatics analysis of publicly available databases and verified by Immunofluorescence...

Port-wine stain (PWS) birthmarks are congenital capillary malformations occurring in 0.3 %∼0.5 % of newborns. Hemoporfin-mediated vascular-acting photodynamic therapy (Hemoporfin PDT) is an emerging option for treating PWS. This in vivo study aimed to compare laser and light-emitting diodes (LED) as light source for Hemoporfin PDT. Chicken wattles were used as the animal model. Color and histopathological changes were evaluated after combining Hemoporfin with KTP laser or LED light source of 532 nm at the same doses...

The coexistence of kaposiform hemangioendothelioma (KHE) and capillary malformation (CM) is quite rare, and few relevant studies can be found to confirm whether this phenomenon is accidental. We diagnosed and treated two such patients, revealing interesting phenomena associated with the development of vascular diseases. These cases offer the possibility that the coexistence of KHE and CM is not accidental and open up a new field of research related to pediatric vascular tumors and vascular malformations. Personalization and precision are required in the diagnosis and treatment of such patients, and the present findings provide a reliable theoretical and practical basis for further research on the pathogenesis and therapy of patients with multiple vascular diseases...

Birthmarks in newborns can be classified as vascular, melanocytic or pigmented, or markers of underlying developmental abnormalities of the nervous system. A nevus simplex is a benign capillary malformation. Newborns with a nevus flammeus can be safely treated before one year of age with a pulsed dye laser to reduce the visibility of lesions. Infantile hemangiomas should be treated with systemic beta blockers if there is a risk of life-threatening complications, functional impairment, ulceration, underlying abnormalities, permanent scarring, or alteration of anatomic landmarks...

Vascular anomalies represent a diverse group of disorders of abnormal vascular development or proliferation. Vascular anomalies are classified as vascular tumors and vascular malformations. Significant advances have been made in the understanding of the pathogenesis, natural history, and genetics of vascular anomalies, allowing for improvements in management including targeted molecular therapies. Infantile hemangiomas are the most common vascular tumor of childhood and follow a distinct natural history of proliferation and involution...

BACKGROUND: Intradural, extramedullary capillary hemangiomas of the cauda equina are exceedingly rare malformations arising from the endothelial cells of the nervous system vasculature. Roughly 20 cases have been reported in the literature, with the youngest and only pediatric case being in a 17-year-old patient. We report the youngest case of intradural extramedullary capillary hemangioma of the cauda equina in a 14-year-old patient. CASE DESCRIPTION: A 14-year-old female presented with two-month history of low back pain with bilateral leg pain and numbness...

BACKGROUND: Vascular malformations belong to the group of vascular anomalies. They are rare congenital diseases resulting from abnormal development of vessels and can arise in any location, often in the head and neck region. Clinical symptoms are variable, functional handicaps and esthetic problems may result. MATERIALS AND METHODS: One differentiates between arteriovenous, lymphatic, venous, and capillary malformations and combinations thereof. Their classification, symptoms, diagnostics, and treatment options are discussed...

No abstract text is available yet for this article.

We report two cases with localized vascular malformations clinically resembling the "dominant lesion" seen in capillary malformation-arteriovenous malformation (CM-AVM) syndrome, however, lacking germline RASA1 variants but presenting double somatic RASA1 variants in affected tissue. Both patients presented with localized and superficial high-flow vascular malformations were treated with surgery and laser therapy and showed partial resolution. The study underscores the rarity of somatic RASA1 variants, contributes to understanding the "second-hit" pathophysiology in vascular lesions, and emphasizes the significance of clinical distinctions and genotyping for accurate diagnoses, offering implications for diagnosis, prognosis, and genetic counseling...

BACKGROUND An arteriovenous malformation (AVM) is an abnormal connection between an artery and a vein, bypassing the capillary network. An AVM of the superficial temporal artery (STA) can occur after trauma, iatrogenic injury, infection, or spontaneously. Spontaneous, or iatrogenic, presentations of STA AVM are thought to be rare, with very few reported cases. Symptoms include local pain, headache, tinnitus, or paresthesia, in addition to a palpable mass associated with thrill on palpation. Options for diagnosis include intra-arterial angiography, doppler ultrasound, magnetic resonance angiography (MRA), and computed tomography angiography (CTA)...

Sturge-Weber syndrome (SWS), a neurocutaneous disorder, is characterized by capillary malformations (CM) in the skin, brain, and eyes. Patients may suffer from seizures, strokes, and glaucoma, and only symptomatic treatment is available. CM are comprised of enlarged vessels with endothelial cells (ECs) and disorganized mural cells. Our recent finding indicated that the R183Q mutation in ECs leads to heightened signaling through phospholipase Cβ3 and protein kinase C, leading to increased angiopoietin-2 (ANGPT2)...

Klippel Trenaunay Syndrome (KTS) is an uncommon inherited syndrome identified by venous varicosities and capillary abnormalities. von Willebrand Disease is the most common inherited hemorrhage disturbance in humans, leading to insufficiency in von Willebrand Factor, which is a complex multimeric protein with two functions: it forms a bridge between the platelets and injured vascular areas and it attaches factor VIII and stabilizes it. We present a 13-year-old son with a typical clinical manifestation of KTS, including "port-wine stains" as capillary malformation, venous malformation, and hypertrophy of the left lower extremity, who also suffers from von Willebrand Disease type 3...

INTRODUCTION: Pediatric non-galenic pial arteriovenous fistulas (pAVFs) are rare vascular malformations that are characterized by a pial arterial-venous connection without an intervening capillary bed. Outcomes and treatment strategies for pAVFs are highly individualized, owing to the rarity of the disease and lack of large-scale data guiding optimal treatment approaches. METHODS: We performed a systematic review of pediatric patients (< 18 years at diagnosis) diagnosed with a pAVF by digital subtraction angiogram (DSA)...

Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disease (frequency 1 in 25-90 000) characterized by the formation of tumors of the central nervous system due to a mutation in the NF2 gene on chromosome 22q12. Bilateral vestibular schwannomas are recognized as absolute diagnostic criteria of NF2 and occur in 95% of patients, are accompanied by hearing impairment, manifest at the age of 18-24 years. Skin manifestations can precede vestibular schwannomas for several years and predict the course of the disease: neurofibromas, cafe-au-lait macules, hypopigmented spots, recently described mesh capillary malformations...

AIMS: BMP9 is a high affinity ligand of ALK1 and endoglin receptors that are mutated in the rare genetic vascular disorder Hereditary Hemorrhagic Telangiectasia (HHT). We have previously shown that loss of Bmp9 in the 129/Ola genetic background leads to spontaneous liver fibrosis via capillarization of liver sinusoidal endothelial cells (LSEC) and kidney lesions. We aimed to decipher the molecular mechanisms downstream of BMP9 to better characterize its role in vascular homeostasis in different organs...

Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder defined as a triad of capillary malformation, venous malformation, and hypertrophy of soft tissue and bones, with or without lymphatic malformation. We report a case of a KTS patient with a hospital course complicated by Group A Streptococcus bacteremia and multiple organ failure. The 39-year-old female with KTS presented to the emergency department with a fever, tachycardia, hypotension, and profuse diarrhea for one week. Blood cultures grew Group A Streptococcus necessitating a multi-antibiotic regimen and intravenous immunoglobulins (IVIG)...