Giant vascular malformations invading the skull:A case report

BACKGROUND Vascular malformations(VMs)arise as a result of errors in the process of angiogenesis and are usually present at birth,but may not become apparent until after birth.However,giant VMs of the head and face are uncommon,with few reported cases,and the prognosis for their surgical intervention is unclear.CASE SUMMARY A 12-year-old girl was admitted to the hospital with findings of an enlarged right temporal scalp.After admission,computed tomography(CT)angiography of cerebral ateries showed a right occlusal gap and a right temporal artery venous malformation.Furthermore,cerebral angiography showed a right temporal lobe VM with multiple vessels supplying blood.The patient underwent surgery to remove the malformed vessels and the eroded skull.Two hours after the surgery,the patient's right pupil was dilated,and an urgent CT scan of the skull showed a right subdural haematoma under the incision,which was urgently removed by a second operation.After surgery,we gave continuous antibiotic anti-infection treatment,and the patient recovered well and was discharged two weeks later.CONCLUSION Surgical removal of giant haemangiomas is risky and adequate preoperative(including interventional embolisation)and intraoperative preparations should be made.

Whole mount of adult ear skin as a model to study vascular malformations

Background:Genetic analysis in human patients has linked mutations in PIK3CA,the catalytic subunit of PI-3′Kinase,to sporadic incidences of vascular malformations.Methods:We have developed a mouse model with inducible and endothelial-specific expression of PIK3CA H1047R,resulting in the development of vascular malformations.Systemic induction of this mutation in adult mice results in rapid lethality,limiting our ability to track and study these lesions;therefore,we developed a topical and local induction protocol using the active metabolite of tamoxifen,4OH-T,on the ear skin of adults.Results:This approach allows us to successfully model the human disease in a mature and established vascular bed and track the development of vascular malformations.To validate the utility of this model,we applied a topical rapamycin ointment,as rapamycin is therapeutically beneficial to patients in clinical trials.We found that the induced ear lesions showed significant attenuation after treatment,which was easily quantified.Conclusions:These data collectively provide evidence of a new model to study vascular malformations in adult tissues,which should be particularly useful in environments lacking specialized small-animal imaging facilities.

Mandibular Embryonal Rhabdomyosarcoma Confused with a Vascular Malformation: About a Case

Malignant mesenchymal tumors (MTM) in children represent 5% to 10% of malignant tumors in children. They constitute a heterogeneous group of tumors of various differentiations depending on their supposed tissue of origin. They mainly include tumors of muscular origin, those derived from connective, vascular, nervous, or adipose tissue. Rhabdomyosarcoma (RMS) is the most common mesenchymal tumor in children and adolescents (60% to 70% of them). And it accounts for 5.8% of all malignant solid tumors in children. Almost half of rhabdomyosarcomas occur in the head and neck. The prognosis for this type of tumor is particularly poor. A case of rhabdomyosarcoma in the mandible with extension to the abdominal wall and unilateral testis in a 6-month-old infant is reported with evolution since birth. It is a purplish lesion at the level under the right chin which was initially taken for vascular malformation, evolving very quickly towards a mandibular mass deforming the painful face with inflammatory signs, followed by the appearance of a hard swelling under the skin on the left flank taking on the same aspect of the mandibular mass. This observation illustrates the need to know how to systematically think about tumor causes in the face of atypical aspects and to carry out an anatomopathological examination.

Concentration is more important than dose when using intralesional Pingyangmycin injection for treatment of vascular malformations

Vascular anomalies represent a wide spectrum of pathology with different clinico-pathological characteristics. Approximately 60% of them occur in the head and neck region. A variety of therapeutic modalities have been reported to manage vascular anomalies over the years, including surgical resection,

Thalidomide for refractory gastrointestinal bleeding from vascular malformations in patients with significant comorbidities

BACKGROUND Refractory gastrointestinal bleeding(GIB)secondary to gastrointestinal vascular malformations(GIVM)such as gastrointestinal angiodysplasia(GIAD)and gastric antral vascular ectasia(GAVE)remains challenging to treat when endoscopic therapy fails.Recently thalidomide has been suggested as a treatment option for refractory GIB.AIM To determine the outcome of patients treated with thalidomide for refractory GIB due to GIVM.METHODS IRB approved,single center,retrospective review of electronic medical records from January 2012 to November 2018.Patients age>18 years old,who had>3 episodes of GIB refractory to medical or endoscopic therapy,and who had been treated with thalidomide for at least 3 mo were included.The primary endpoint was recurrence of GIB 6 mo after initiation of thalidomide.RESULTS Fifteen patients were included in the study,all with significant cardiac,hepatic,or renal comorbidities.The cause of GIB was GIAD in 10 patients and GAVE in 5 patients.Two patients were lost to follow up.Of the 13 patients followed,38.5%(n=5)had no recurrent GIB or transfusion requirement after treatment with thalidomide.Furthermore,84.6%(n=11)of patients had a reduction in transfusion requirements and hospitalizations for GIB.Thalidomide was discontinued in 2 patients due to cost(n=1)and medication interaction(n=1).Reported adverse reactions included fatigue(n=3),neuropathy(n=2),dizziness(n=1),and constipation(n=1).Six patients died during follow up due to unknown cause(n=4)and sepsis(n=2).CONCLUSION Thalidomide appears to be an effective treatment for refractory GIB due to GIAD or GAVE in a Western population with significant comorbidities.

Small intestinal vascular malformation bleeding:A case report with imaging findings

The small intestine is approximately 5-6 m long and occupies a large area in the abdominal cavity. These factors preclude the use of ordinary endoscopy and X-ray to thoroughly examine the small intestine for bleeding of vascular malformations. Thus,the diagnosis of intestinal bleeding is very difficult. A 47-year-old man presented at the hospital 5 mo ago with dark stool. Several angiomas were detected by oral approach enteroscopy,but no active bleeding was observed. Additionally,no lesions were detected by anal approach enteroscopy;however,gastrointestinal tract bleeding still occurred for an unknown reason. We performed an abdominal vascular enhanced computed tomography examination and detected ileal vascular malformations. Ileum angioma and vascular malformation were detected by a laparoscopic approach,and segmental resection was performed for both lesions,which were confirmed by pathological diagnosis. This report systemically emphasizes the imaging findings of small intestinal vascular malformation bleeding.

Hemorrhagic shock due to ruptured lower limb vascular malformation in a neurofibromatosis type 1 patient:A case report

BACKGROUND Neurofibromatosis type 1(NF-1)is a common autosomal dominant genetic disorder.It is characterized by café-au-lait spots and cutaneous neurofibromas.Although NF-1 typically involves the skin,nerves,bones,and eyes,vascular manifestation in the form of devastating hemorrhage can occur rarely.CASE SUMMARY We present the case of a 47-year-old female with NF-1 who had a ruptured right lower limb arterial malformation.She presented with sudden right lower limb swelling for two hours and symptoms of hemorrhagic shock on admission.The physical examination revealed a right lower limb presenting as elephantiasis and visible dark-brown pigmentation over a large area.Computed tomography angiography showed right lower limb arteriovenous malformation.Therefore,the patient underwent emergency right lower limb digital subtraction angiography(DSA)and vascular embolization after blood transfusions.However,after DSA,vascular embolization,and repeated blood transfusions,the anemia and right lower limb swelling and tenderness did not improve.As a result,the patient underwent right lower extremity above-knee amputation.After amputation,the patient's hemoglobin level improved significantly without blood transfusion,and she was discharged from the hospital after the incision healed.Postoperative pathological examination suggested neurogenic tumors.No other complications had occurred 1-year follow-up.CONCLUSION Vascular malformation and rupture are fatal complications of NF-1.Embolization may not provide complete relief,the patient might need to undergo neurofibroma resection or amputation.

Microsurgery for brainstem vascular malformation:report of 19 cases

Objective To investigate the microsurgical treatment of brainstem vascular malformation and evaluate the surgical outcome. Methods Brain stem vascular malformations in 19 cases were resected by microsurgical techniques. Six cases of cavernous malformations (CM) in the dorsal of pons and medulla underwent

Expression of glucocorticoid receptor isoforms in cutaneous hemangiomas and vascular malformations

Background Hemangiomas are the most common tumors in children. Some hemangiomas may require intervention because of their location, size, behavior, or potential for important complications. Pharmacological therapy with glucocorticoids is the mainstay treatment, but there is no consensus on therapeutic regimens or candidate selection, therapeutic efficacy vaires, and the mechanism mediating the beneficial effects of glucocorticoids remains unclear. This study was performed to investigate the expression patterns of the glucocorticoid receptor (GR) and its α isoform (GRα) in cutaneous hemangiomas and vascular malformations.Methods SP immunohistochemical technique was used to examine the expression of GR(e-20) (GR) and GR (p-20) (GRα) on vascular endothelial cells in 80 specimens that included 33 proliferating hemangiomas, 32 involuting hemangiomas, 7 vascular malformations as well as 8 normal skin tissues, all obtained from infants and children. GR and GRα expression in prepared tissue slides were examined using automated computer-assisted microscopic analysis. Mean gray scale values were compared among the various tumor types.Results The mean gray scale values of GR were 127.0±6.4 and 121.4±6.6 in hemangiomas and vascular malformations respectively, but this difference was not statistically significant ( P =0.104). However, these values were all markedly higher than that of normal skin, which was only 108.6±6.8 ( P =0.001 and P =0.000 for comparison with hemangiomas and vascular malformations respectively). The gray scale of GR in proliferation and involuting hemangiomas were 127.9±4.8 and 126.0±5.8 respectively, but this difference was not significant ( P =0.146). However, GRα expression in hemangiomas, vascular malformations and normal skin declined gradually in stepwise fashion (127.3±5.4, 120.4±6.1 and 109.9±5.3 respectively; P <0.001). GRα expression was higher in proliferating hemangiomas than in involuting hemangiomas (127.2±6.3 and 122.5±6.3; P =0.004).Conclusions GR and GRα are strongly expressed in hemangiomas and vascular malformations. The expression of GRα is closely related to the phase of the hemangioma. Determination of GR and GRα may be a positive significance to understand the information of hemangiomas and vascular malformations and may further help determining proper strategies of steroid therapy for hemangiomas and vascular malformations.

Management of extensive intraparotid vascular malformation: a case report

Treatment of large soft tissue vascular lesions remains one of the greatest challenges in modern plastic surgery.The extent of the disease and the involved structures,but also the expectations of the patients are important in determining the way of treatment.The effective management of hemangiomas and vascular malformations of the head and neck requires a team approach,in order to understand the biologic behavior of the lesion,complete the diagnostic studies necessary to define the area of involvement,and understand the benefits and limitations of interventional radiologic and surgical procedures.The synthesis of this knowledge can help determine the best treatment.The strategic plan and subsequent management of a 34-year-old Maori man with an extensive arteriovenous intraparotid malformation is presented.

Rare giant intradural epidural hemolymphangioma:A case report

BACKGROUND Hemolymphangioma is a rare,noninvasive benign tumor that originates from vascular and lymphatic malformations.It is usually congenital and can present with varying symptoms depending on its location and size.There are very few reports of hemolymphangiomas within the spinal canal,and giant lesions are exceptionally rare.CASE SUMMARY In July 2023,a 64-year-old male with a giant intravertebral epidural hemolymphangioma from thoracic 11 to lumbar 2(T11-L2)was admitted to the Department of Spine Surgery at the People's Hospital of Binzhou City,China.The patient experienced progressive lumbar and left lower limb pain,numbness,weakness in both lower limbs,and difficulty with urination and defecation.Imaging studies revealed a large cystic mass in the spinal canal at T11-L2.Surgical decompression was performed,and the pathology confirmed hemolymphangioma.CONCLUSION Complete resection of hemolymphangiomas has the best prognosis,and final diagnosis relies on pathologic diagnosis.In this case,the mass was removed intact with a pedicle nail rod system,leading to adequate spinal decompression and restoration of spinal stability.

Anorectal hemangioma, a rare cause of lower gastrointestinal bleeding, treated with selective embolization: A case report

BACKGROUND Anorectal hemangioma is a rare and frequently misdiagnosed cause of lower gastrointestinal(GI)bleeding.Here,we present a minimally invasive therapy with selective embolization.CASE SUMMARY A 21-year-old male patient experienced painless rectal bleeding since childhood and was treated for ulcerative colitis.Diagnostic studies later revealed specific characteristics for vascular lesions-anorectal hemangiomas.The severity of rectal bleeding caused symptomatic anemia and possible surgical treatment was asso-ciated with a high risk of fecal incontinence.Here,we present selective emboli-zation,a minimally invasive therapeutic approach that is proven as an alternative therapeutic method of choice.The patient significantly improved temporarily and had a small ischemic ulcer,which healed with a control colonoscopy and deve-loped no stenosis.CONCLUSION Awareness of the clinical and radiological features of GI hemangiomas may help improve diagnostics and avoid inappropriate therapeutic procedures.

Familial cerebral cavernous malformation Retrospective analysis of one Chinese pedigree

Cerebral cavemous malformation （CCM） is a frequently occurring disease in Latin American populations, but little is known about the prevalence in China. This study enrolled one Chinese family with CCM, comprising 16 members; four were diagnosed with CCM which corresponded with autosomal incomplete dominance inheritance. The main clinical manifestations included headache, focal neural dysfunction, and cerebral hemorrhage. The lesions were a mixture of hyperintensity and hypointensity signals on TlWl and T2Wl, with a black hypointensity ring on T2Wl. CCM cranial magnetic resonance imaging T2Wl revealed an iron ring as a result of hemosiderin deposition. Pathological findings of CCM revealed tightly packed and variably thickened vascular channels lacking smooth muscle or elastic tissue. Intralesional hyalinosis, calcification, or bleeding of different phases and perilesional glial hyperplasia were observed, as well as hemosiderin deposition within or around the lesions. These features of this family were consistent with specific genetic, imaging and pathological features of familial CCM. Pathological characteristics reveal repeated hemorrhage, as well as intralesional and perilesional hemosiderin deposition.

Easily misdiagnosed complex Klippel-Trenaunay syndrome: A case report

BACKGROUND Klippel-Trenaunay syndrome(KTS) is a congenital vascular malformation with a complicated etiology. It is sporadic and clinically rare in occurrence. The typical characteristics are capillary malformation(also known as port-wine stain),varicose veins and malformations, and bony and/or soft tissue hypertrophy with or without lymphatic malformation, which are known as the “classic clinical triad”. Herein, a rare case of KTS characterized by crossed-bilateral limb hypertrophy accompanied by intermittent hematochezia and hematuria is reported.CASE SUMMARY We described a 37-year-old female with KTS. She was admitted to our hospital owing to the gradual enlargement of the left lower extremity along with intermittent hematochezia and hematuria. The patient was diagnosed to have hemorrhoid bleeding by other hospitals and treated with conventional hemostatic drugs, but continued to have intermittent gastrointestinal bleeding and hematuria. Therefore, she visited our hospital to seek further treatment. During hospitalization, relevant imaging and laboratory examinations and colonoscopy were performed. In combination with the patient’s history and relevant examinations, we considered that the patient had a complex form of KTS. We recommended a combined diagnosis and treatment from the vascular, interventional,anorectal, and other departments, although she declined any further treatment for financial reasons.CONCLUSION The clinical manifestations of KTS are extensive and diverse and chiefly include the typical triad. However, Vascular malformations of KTS can also involve several parts and systems such as digestive and urogenital systems. Therefore, the atypical manifestations and rare complications necessitate the clinician’s attention and are not to be ignored.

Balloon-occluded retrograde transvenous obliteration for treatment of congenital intrahepatic portosystemic venous shunt:A case report

Congenital intrahepatic portosystemic venous shunt(CPSVS), a rare vascular malformation, has been described in both children and adults and can lead to severe neurophysiological complications. However, a standard therapeutic protocol for CPSVS has not been elucidated. With the advantage of minimally invasive techniques,transcatheter embolization has been used to treat CPSVS. The condition is challenging to manage, especially in patients with large or multiple shunts, through which rapid blood flow can cause ectopic embolism. Here, we describe a case of CPSVS with a large shunt that was successfully treated with balloon-occluded retrograde transvenous obliteration with interlocking detachable coils.

Blue rubber bleb nevus syndrome:A case report and literature review

Blue rubber bleb nevus syndrome(BRBNS)is a rare disease characterized by multiple venous malformations and hemangiomas in the skin and visceral organs.The lesions often involve the cutaneous and gastrointestinal systems.Other organs can also be involved,such as the central nervous system,liver,and muscles.The most common symptoms are gastrointestinal bleeding and secondary iron deficiency anemia.The syndrome may also present with severe complications such as rupture,intestinal torsion,and intussusception,and can even cause death.Cutaneous malformations are usually asymptomatic and do not require treatment.The treatment of gastrointestinal lesions is determined by the extent of intestinal involvement and severity of the disease.Most patients respond to supportive therapy,such as iron supplementation and blood transfusion.For more significant hemorrhages or severe complications,surgical resection,endoscopic sclerosis,and laser photocoagulation have been proposed.Here we present a case of BRBNS in a 45-year-old woman involving 16sites including the scalp,eyelid,orbit,lip,tongue,face,back,upper and lower limbs,buttocks,root of neck,clavicle area,superior mediastinum,glottis,esophagus,colon,and anus,with secondary severe anemia.In addition,we summarize the epidemiology,clinical manifestations,diagnosis,differential diagnosis and therapies of this disease by analyzing all previously reported cases to enhance the awareness of this syndrome.

Abernethy syndrome in Slovenian children: Five case reports and review of literature

BACKGROUND Abernethy syndrome is a congenital vascular anomaly in which the portal blood completely or partially bypasses the liver through a congenital portosystemic shunt.Although the number of recognized and reported cases is gradually increasing,Abernethy syndrome is still a rare disease entity,with an estimated prevalence between 1 per 30000 to 1 per 50000 cases.With this case series,we aimed to contribute to the growing knowledge of potential clinical presentations,course and complications of congenital portosystemic shunts(CPSS)in children.CASE SUMMARY Five children are presented in this case series:One female and four males,two with an intrahepatic CPSS and three with an extrahepatic CPSS.The first patient,who was diagnosed with an intrahepatic CPSS,presented with gastrointestinal bleeding,abdominal pain and hyperammonaemia at six years of age.He underwent a percutaneous embolization of his shunt and has remained asymptomatic ever since.The second patient presented with direct hyperbilirubinemia in the neonatal period and his intrahepatic CPSS later spontaneously regressed.The third patient had pulmonary hypertension and hyperammonaemia due to complete portal vein agenesis and underwent liver transplantation at five years of age.The fourth patient was diagnosed immediately after birth,when evaluated due to another congenital vascular anomaly,and the last patient presented as a teenager with recurrent bone fractures associated with severe osteoporosis.In addition,the last two patients are characterised by benign liver nodules;however,they are clinically stable on symptomatic therapy.CONCLUSION Abernethy syndrome is a rare anomaly with diverse clinical features,affecting almost all organ systems and presenting at any age.

Effective treatment of gastrointestinal bleeding with thalidomide- Chances and limitations

For more than 50 years bleeding from gastrointestinal angiodysplasias has been treated by hormonal therapy with estrogens and progesterons. After a randomized study finally demonstrated that hormones have no effect on bleeding events and transfusion requirements, therapy has switched to endoscopic coagulation. However, angiodysplasias tend to recur over months to years and endoscopy often has to be repeated for long time periods. Thalidomide, which caused severe deformities in newborn children in the 1960 s, is now increasingly used after it was shown to suppress tumor necrosis factor alpha, inhibi t angiogenesis and to be also effective for treatment of multiple myeloma. In 2011 thalidomide was proven to be highly effective for treatment of bleeding from gastrointestinal angiodysplasias in a randomized study. Further evidence by uncontrolled studies exists that thalidomide is also useful for treatment of bleeding in hereditary hemorrhagic telangiectasia. In spite of this data, endoscopic therapy remains the treatment of choice in many hospitals, as thalidomide is still notorious for its teratogenicity. However, patients with gastrointestinal bleeding related to angiodysplasias are generally at an age in which women have no child-bearing potential. Teratogenicity is therefore no issue for these elderly patients. Other side-effects of thalidomide like neurotoxicity may limit treatment options but can be monitored safely.

Analysis and Treatment of Multiple Severe Venous Vascular Malformation Syndrome Combined with Coagulopathy

According to a new international classification of vascular lesions, venous vascular malformation has become the most common type of congenital vascular malformation. A characteristic of this disease is its life-long progressive development, which is the main cause of harm to health and is different from hemangioma. Severe hemangioma with thrombocytopenia （Kasabach-Merritt syndrome） is often encountered in children, especially in infants younger than 1 year old. Coagulation abnormalities in Kasabach-Merritt syndrome are mainly caused by increased platelet destruction. Whereas, severe venous malformation-associated coagulopathy is attributed to the depletion of coagulation substances and extensive intravenous coagulation, and it occurs in adults. In principle, surgery is required.

Spinal dural arteriovenous fistula 8 years after lumbar discectomy surgery: A case report and review of literature

BACKGROUND Spinal dural arteriovenous fistula(SDAVF)is an extremely rare vascular malformation of the central nervous system that is often confused with degenerative spinal disorders due to similar early symptoms and clinical features.Here,we report a case of SDAVF recurrence 8 years after lumbar spine surgery and summarize relevant literature.CASE SUMMARY A 54-year-old male was admitted to our hospital complaining of lower back pain,numbness in both lower extremities and intermittent claudication.Subsequent imaging identified lumbar spinal stenosis.Following surgical treatment,the patient’s symptoms significantly resolved,and he was able to perform daily activities.However,similar symptoms appeared 8 years later,followed by confirmation of SDAVF diagnosis.The patient underwent neurosurgery 7 mo after symptom onset.The follow-up period lasted 14 mo,and the patient remains with marginal neurological symptoms.CONCLUSION This case highlights the importance of prompt SDAVF diagnosis.Due to its nonspecific clinical presentation,the clinical experience of the surgeon and definitive imaging examination are indispensable.Additionally,timely neurosurgery is effective and may significantly improve patient outcomes.