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Background: The presence of a vascular, blue linear discoloration on the nasal root of infants and young children is a frequent incidental feature, rarely reported in the medical literature. It is related to the trajectory of the transverse nasal root vein (TNRV)., Objective: To study the frequency and clinical characteristics of the vascular discoloration of the nasal root in children., Methods: A prospective study was performed to address the presence or absence of vascular discoloration of the nasal root in all children under 6 years of age attending a pediatric dermatology clinic from November 2022 to November 2023. Data on age and skin phototype (Fitzpatrick classification I-VI) were also collected., Results: Of 701 patients examined, 345 (49.2%) presented with a vascular discoloration of the nasal root. This was present in 97 of 193 (50.3%), 127 of 261 (48.7%), and 121 of 247 (49.0%) patients for the age groups 0-1, 1-3, and 3-6 years, respectively. The presence of vascular discoloration of the nasal root was more frequent in patients with lighter Fitzpatrick skin phototypes: 49 of 69 (71.0%) phototype II, 157 of 290 (54.1%) phototype III, and 137 of 337 (40.7%) phototype IV., Conclusions: A vascular discoloration of the nasal root is a frequent skin feature in infants and children, persisting at least until the age of 6. It does not constitute any medical problem aside from cosmetic concern and parents can be reassured of its benign nature. We propose the medical term "prominent TNRV" to describe this condition., (© 2024 Wiley Periodicals LLC.)

Background: Cutaneous venous malformation (VM) can be associated with internal vascular anomalies. Our objective was to investigate the frequency of internal vascular anomalies in patients with an isolated genital venous malformation to assess the utility of screening for internal findings., Methods: We retrospectively reviewed our Vascular Anomalies Center database for patients with a focal genital venous malformation presenting between 1999 and 2016. Abdominal and pelvic imaging reports were reviewed for internal vascular anomalies. Endoscopy reports were also reviewed when available., Results: A focal genital venous malformation was found in 22 patients (14 female, 8 male). Ten (45%) had a venous malformation of at least one internal structure, most commonly the pelvic floor (n = 6), colon (n = 5), urethra (n = 4), and/or bladder (n = 3). Eight experienced hematuria, hematochezia, and/or rectorrhagia secondary to their internal venous malformation. In patients with internal venous malformations, the mean age of symptom presentation was 7.3 years (range 1-22 years). Two patients had malformed inferior mesenteric and portal veins visible using ultrasonography and magnetic resonance imaging. They required surgical intervention to prevent thrombosis and decrease urogenital and gastrointestinal bleeding., Conclusion: Nearly half of our patients with a focal genital venous malformation had internal venous anomalies. Physicians should suspect urogenital or gastrointestinal venous malformations in patients with a focal genital venous malformation, especially if they develop hematuria, hematochezia, or rectorrhagia. Significant mesenteric venous trunk anomalies can also occur. Because these require surgical intervention, early recognition is important. We recommend that all patients with a focal genital venous malformation undergo abdominal and pelvic ultrasound to evaluate for internal venous anomalies., (© 2017 Wiley Periodicals, Inc.)

Background: Lehmann et al., [2003, 2006] have documented two different substitutions at position 486 of the BMPR1B gene which resulted in a phenotype of brachydactyly A2 [MIM 112600] or brachydactyly C with symphalangism [MIM 113100]., Methods: In this article we report a family of Polish extraction with a novel mutation: c.1457G>T (R486L) which segregated with a complex brachydactyly. Clinical and radiological data are presented and details of previously reported patients with a pathogenic change of an amino acid at position 486 of the BMPR1B gene are summarized., Conclusion: Our data extends the previously known mutational and radiological spectrum associated with mutations in the BMPR1B gene and confirms the existence of a universal hotspot in the BMPR1B gene in this distinctive autosomal dominant brachydactyly disorder. It is of interest that an affected female in the Polish family had a severe congenital malformation of the venous system in addition to her digital anomalies. This observation raises the possibility of disturbance of embryonic angiogenesis by specific mutations in BMPR1B., (© 2015 Wiley Periodicals, Inc.)

We present a group of patients with regional capillary malformations of the upper limbs and few additional findings other than prominent veins. We believe that this entity is the upper extremity equivalent of capillary-venous malformation of the lower limb and, likewise, belongs at the minor end of the spectrum of vascular disorders with overgrowth., (© 2015 Wiley Periodicals, Inc.)

Venous malformations (VMs) are often painful and may enlarge over time. Chronic coagulopathy is common in VMs and may contribute to phleboliths and potentially to disease progression. Few studies have examined the effects of anticoagulation on VMs and to our knowledge none have examined the use of aspirin therapy. A survey was administered to patients and parents of patients with VMs who attended the University of California at San Francisco Vascular Anomalies Center over a 4-year period (2008-2012) to whom aspirin had been recommended. They were surveyed regarding whether they were taking aspirin and, if yes, whether aspirin had resulted in any appreciable benefit. Sixty-five letters were sent to potential subjects: 38 participated and 27 declined to participate or could not be contacted. Twenty-eight of the 38 had begun aspirin and 22 reported current use. Seventeen reported some benefit, including less aching (n = 2), less shooting pain (n = 15), less fullness and swelling (n = 13), and shrinking of the VM (n = 1). Discontinuation of aspirin was associated with worsening VM symptoms in five of six patients. Side effects were reported in 6 of 28 patients, including five episodes of minor bleeding or excessive bruising and one of nausea and vomiting. This study suggests that aspirin may be a beneficial treatment for VM, with a reduction in pain and soft tissue swelling and an acceptable side-effect profile, but the retrospective nature of the study and the small size of the cohort limited our conclusions. Larger prospective studies of aspirin for VM using clinical and laboratory outcome measures are needed to confirm these observations., (© 2014 Wiley Periodicals, Inc.)

Sinus pericranii is a rare vascular malformation in which the extracranial veins are connected to the intracranial venous circulation. It typically appears as a soft mass with a blue hue on the scalp. We describe a patient with sinus pericranii and associated hair collar sign., (© 2014 Wiley Periodicals, Inc.)

Mucosal involvement of venous malformations can cause bleeding, pain, and functional impairment. Treatment options include surgery, sclerotherapy, or laser therapy. Neodymium:yttrium aluminum garnet (Nd:Yag) laser therapy has been used to treat mucosal disease, but few studies have focused purely on the oral cavity. We present a retrospective review of 4 patients (5 subsites) with oral cavity venous malformations treated with the Nd:YAG laser using an underwater technique. Photographs of the venous malformations before and after treatment were evaluated by 2 blinded physicians. A visual analog scale was used to rate the treatment. The medical record was reviewed to assess change in symptoms and to note complications. Four sites were rated as having "significant improvement" and 1 site as "some improvement." Our study demonstrates that the Nd:YAG laser can be a feasible option in the treatment of venous malformations of the oral cavity.

Venous malformations (VMs) are congenital anomalies of the venous vasculature, but not all are evident at birth. The factors that lead to presentation later in life are not well understood. The objective of this retrospective cohort study of patients with VMs evaluated at the University of California at San Francisco Birthmarks and Vascular Anomalies Center from 2005 to 2009 was to investigate the clinical presentation of VMs and correlate these features with different types of tissues (e.g., skin, subcutis, intramuscular). Main outcomes included the age at which lesions were first noticed, tissue type involved, presenting signs and symptoms, aggravating factors, and morbidities. A total of 115 subjects was included. The mean age when VM was first noted was 6.7 ± 0.9 years. Tissue types involved included skin/subcutaneous (46%); intramuscular (40%); and bone, tendon, or joint (14%). Presenting signs/symptoms included soft tissue swelling (44%), discrete mass (34%), pain (33%), and skin discoloration (26%). When compared with VMs limited to the skin or subcutis, those restricted to the intramuscular compartment were less likely to present at birth (27% vs 53%, p < 0.05) but were more frequently painful (79% vs 60%, p < 0.05) and contained more phleboliths (28% vs 11%, p < 0.05), and were associated with more exercise limitation (35% vs 16%, p < 0.05). VMs differ in age of onset, clinical features, and complications based on differing tissues and sites of involvement, with isolated intramuscular involvement associated with later presentation and greater morbidity., (© 2013 Wiley Periodicals, Inc.)

Objective: Describe single-stage removal of head and neck venous malformations using percutaneous embolization with n-butyl cyanoacrylate (n-BCA) glue prior to surgical resection., Study Design: Case series with chart review., Setting: Tertiary-care pediatric hospital., Subjects and Results: A total of 169 venous malformations were identified between 2000 and 2012, and 102 (60.1%) were in the head and neck. Thirty-five of 102 (34.3%) were observed, 56 of 102 (54.9%) had invasive therapy, and 11 of 102 (10.8%) underwent n-BCA embolization and surgery ("GES procedure"). The median age of the glue embolization and surgery cohort was 14 years (range, 6-19), and 7 of 11 (63.6%) were female. Treated venous malformations involved the oral cavity/tongue (4/11; 36.4%) and parotid/face (7/11; 63.6%). During facial lesion excision, intraoperative facial nerve monitoring was used. All surgical sites (11/11) were closed primarily. No patient in this cohort had any posttreatment nerve deficits, dysarthria, and dysphagia or lesion persistence., Conclusions: Localized venous malformations can be treated with preoperative percutaneous embolization with n-BCA glue followed by surgical excision. This technique, with selective motor nerve monitoring, appears safe and allows for complete venous malformation removal with limited nerve dissection, to allow maximal tissue and functional preservation.

Objectives: To describe fetal spectrum and echocardiographic characteristics of anomalous systemic venous return (ASVR, cardinal veins) without other structural heart defects (isolated ASVR), evaluate associated extracardiac and genetic anomalies and review neonatal outcome., Methods: From 2003 to 2009, 369 consecutive fetuses were diagnosed with cardiac malformation, including 27 cases with an isolated ASVR. The following variables were collected: type of ASVR, extracardiac anomalies, karyotype and short-term outcome., Results: The most common forms of ASVR were persistent left superior vena cava (SVC) (n = 15) and interrupted inferior vena cava (IVC) (n = 6). The other ASVR types were a persistent left SVC without a right SVC (n = 4), bilateral agenesis of the SVC with cephalic venous drainage toward the IVC through the azygos system (n = 1) and total ASVR to the coronary sinus (n = 1). Genetic disorders were confirmed in five cases, all with a persistent left SVC, with extracardiac anomalies present in four of them. Ten other patients had extracardiac anomalies detected prenatally or postnatally. When available, ASVR diagnosis was confirmed postnatally in all cases., Conclusion: Isolated ASVRs can be accurately diagnosed prenatally and are frequently associated with extracardiac and genetic anomalies. A detailed morphological ultrasound and fetal karyotype should be suggested. Neonatal outcome was mainly related to the associated anomalies., (Copyright © 2011 John Wiley & Sons, Ltd.)

Objective: To describe a typical presentation of venous malformation within the masseter muscle, including physical findings and imaging, and to present the University of California, San Francisco's (UCSF) Vascular Anomalies and Birthmark Center's (VABC) experience with sclerotherapy for these lesions., Study Design: Case series with chart review., Setting: Tertiary care medical center., Subjects and Methods: Retrospective chart review of all patients presenting to the UCSF VABC over a 10-year period., Results: Twelve patients with isolated venous malformations of the masseter muscle were identified. All of these patients presented with pain and facial asymmetry that was more pronounced with jaw-clenching. All underwent magnetic resonance imaging demonstrating a T2 hyperintense homogenous mass contained within the masseter muscle. Eleven of 12 had evidence on imaging of phleboliths within the mass; 10 patients underwent sclerotherapy. All treated patients had initial improvement in symptoms and/or appearance. Seven of 10 have had sustained improvement at a mean follow-up of 28 months., Conclusion: Masseteric venous malformations have a typical clinical presentation and imaging characteristics that should allow clinicians to distinguish them from other abnormalities presenting in this area. Percutaneous sclerotherapy should be considered as a treatment option for these patients and can result in excellent outcomes., (Copyright © 2010 American Academy of Otolaryngology-Head and Neck Surgery Foundation. Published by Mosby, Inc. All rights reserved.)

Objective: To identify hormone receptors within vascular malformations (arteriovenous malformations [AVMs], venous malformations [VMs], and lymphatic malformations [LMs]) of the head and neck., Study Design: Immunohistochemical staining for estrogen receptor (ER) and progesterone receptor (PR) was performed on archival vascular malformation tissue collected from both pediatric and adult patients., Setting: Tertiary referral center from 2006 to 2008., Subjects and Methods: Twelve AVM, 10 VM, and eight LM specimens were stained for both ER and PR. Ten breast carcinoma specimens were used as controls, with the carcinoma cells serving as positive controls, and the endothelium and smooth muscle cells of the blood vessels serving as negative controls. Five normal supraglottic mucosal samples served as head and neck controls. The Fisher exact test was used for statistical analysis., Results: Ten of the 12 (83%) AVM specimens stained diffusely positive for PR within the nuclei of the endothelium and smooth muscle of the malformed vessels (P < 0.0001). Five of the 10 (50%) VM specimens stained positive for PR (2 [20%] focal, 3 [30%] diffuse) within the nuclei of the endothelium and smooth muscle of the malformed vessels (P = 0.0325). Four of the eight (50%) LM specimens stained focally positive for PR within the nuclei of the endothelium of the malformed vessels (P = 0.0229). None of the vascular malformation specimens stained positive for ER., Conclusion: Our data suggest that PR, but not ER, is expressed in AVMs, VMs, and LMs of the head and neck.

Background: Corrosion casting and immunohistochemical staining with anti-alpha smooth muscle actin and anti-CD34 was utilized to demonstrate the capillary plexus and venous system in control and malformed mouse hearts., Methods: Outflow tract malformations (e.g., double outlet right ventricle, transposition of the great arteries, and common truncus arteriosus) were induced in progeny of pregnant mice by retinoic acid administration at day 8.5 of pregnancy., Results: Although control hearts exhibited areas in which capillaries tended to be oriented in parallel arrays, the orientation of capillaries in the respective areas of malformed hearts was chaotic and disorganized. The major branch of a conal vein in control hearts runs usually from the left side of the conus to its right side at the root of the pulmonary trunk and opens to the right atrium below the right auricle; thus, it has a curved course. On the other hand, a conal vein in malformed hearts courses from the left side or from the anterior side of the conus and tends to traverse straight upwards along the dextroposed aorta or along the aortopulmonary groove with its proximal part located outside of the heart. Other cardiac veins in outflow tract malformations are positioned in the same locations as in control hearts., Conclusions: We postulate that the changed location of the conal vein and disorganized capillary plexus result from malformed morphogenesis of the outflow tract and/or a disturbed regulation of angiogenic growth factor release from the adjacent environment.

The coexistence of enchondromas and vascular lesions characterizes the principal feature of a rare congenital condition known as Maffucci syndrome. We present a 20-year-old male with a mosaic distribution of vascular malformations and atrophic overlying dermis and subcutis. Enchondroma and multiple periosteal chondromas of the ipsilateral limb led to the working diagnosis of Maffucci syndrome. Of interest, this patient also has a history of congenital fibrosarcoma with concomitant thrombocytopenia. To our knowledge this is the first report of this constellation of findings, which may represent a form of mesenchymal mosaicism analogous to the Blaschkoid distribution of other genodermatoses.

Dermoscopy has become an important tool for evaluating skin lesions in children. We report the dermoscopic findings in a case of Bean syndrome and emphasize the utility of this technique in vascular lesions.

Objectives: The purpose of our study was to review our own experience and the available literature on the prenatal diagnosis of absent ductus venosus associated with direct insertion of the umbilical vein into the heart., Methods: A retrospective review of the database of a tertiary fetal cardiology centre. The literature was searched for cases with a prenatal diagnosis of such an umbilical venous anomaly., Results: Between January 2000 and June 2003, nine fetuses were diagnosed as having absence of the ductus venosus with the umbilical vein directly draining into the heart. This represents the largest reported clinical experience of this anomaly. We also report, to our knowledge, the first prenatal diagnosis of insertion of the umbilical vein into the left atrium. Combining our series with those found in the literature, a total of 35 cases were identified. Cardiomegaly was reported in 25 of the 35 cases (71%). Structural cardiac abnormalities and other extra-cardiac anomalies were found in 13 of the 35 cases (37%). Hydrops was present or developed in 6 cases (17%). The outcome data were available for 33. The overall survival rate was 67% (22 of 33)., Conclusions: Careful assessment of the ductus venosus and the umbilical vein should be a part of the evaluation of every fetus with unexplained cardiomegaly. All fetuses with abnormal connection of the umbilical vein should undergo a clinical and ultrasonographic assessment both in utero and after birth to exclude any cardiac and extra-cardiac abnormalities. During the prenatal period, serial ultrasound examinations are indicated and delivery is considered when there is evidence of progressive cardiovascular compromise., (Copyright 2004 John Wiley & Sons, Ltd.)

Objective: This study was performed to determine the clinical presentation of jugular diverticulum and its relevance with the extension of the lesion., Study Design: The records and high-resolution CT scans of 1474 patients, with otologic symptoms or related clinical findings, were evaluated retrospectively. In 17 cases in which CT scans revealed the presence of jugular diverticulum, sensorineural symptoms were evaluated with respect to a reference line, perpendicular to the basal turn of the cochlea and tangent to the vestibule in axial CT scan images., Results: When the extension of jugular diverticulum was posterior to the reference line, sensorineural symptoms with vertigo were dominant in most patients (72.7%) in this group. On the other hand, for the patients with anterior-extending jugular diverticulum, sensorineural symptoms without vertigo were detected in 50% of patients, whereas 33.3% had sensorineural symptoms with vertigo., Conclusion: This study revealed a relationship between the extension of jugular diverticulum and clinical symptoms. However, this relationship lacks statistical evidence because of the limited number of patients.

Objectives: We present an observational study of 12 cases of anomalies of the umbilical and portal vein systems associated with absence of the ductus venosus (DV) diagnosed over the past 5 years. The hemodynamic implications of each pattern of umbilico-portal system anomalies associated with absence of the DV have been investigated, as well as the frequency and types of associated anomalies and their embryological origin., Methods: In all cases ultrasound, color Doppler, and cytogenetic investigations were performed., Results: Four main patterns of abnormal venous circulation were documented: (1). the umbilical vein (UV) bypasses the liver and drains into the right atrium directly or through a dilated coronary sinus (three cases); (2). the UV bypasses the liver, with an infrahepatic or suprahepatic connection directly to the inferior vena cava (IVC) (two cases); (3). the UV bypasses the liver and drains directly into the iliac or renal veins (four cases); and (4). the UV drains directly into the portal veins (three cases). Among seven cases with other associated anomalies (58%), there were three cases of Turner's and Noonan's syndromes. Two fetuses and two neonates died and there were two terminations of pregnancy (TOP)., Conclusions: In utero diagnosis of ultrasound patterns associated with DV anomalies is feasible. Fetal karyotyping should be considered, serial ultrasound examinations recommended and, in the presence of heart failure, delivery can be anticipated., (Copyright 2002 John Wiley & Sons, Ltd.)

A three-day-old foal died from intestinal strangulation due to a remnant of vitelline vein which extended between the umbilicus and the portal vein. The strangulating vein was identified on the basis of its morphological and histological structure. This finding, which is the first reported case of a persistent vitelline vein in a horse, is discussed in relation to the normal development and involution of the vitelline circulation.

An 8-month old Welsh Cob filly had shown progressive ataxia of the hindquarters since about 3 months of age. Autopsy revealed a venous malformation resulting in malacia in the ninth thoracic segment of the spinal cord. It is proposed that the tissue destruction associated with this congenital lesion gave rise to the ataxia.

Six boars were deficient in penile erection and incapable of intromission, but produced ejaculates containing spermatozoa. In five of these boars impotence was primary, but one boar had served normally for two seasons before showing secondary impotence. Sexual libido was good in two, moderate in two and poor in two of these animals. Post mortem studies on the reproductive tracts revealed no abnormalities except in the penes. In one of the boars with primary impotence, the penis showed an abnormal type of spiral deviation during simulated erection, but there was no abnormality in the venous drainage of the organ. In the other five boars, injection experiments revealed venous drainage of the corpus cavernosum penis (ccp) into the dorsolateral (left) tributary of the v dorsalis penis. In four cases, the apical cavernous spaces of the ccp communicated with the vascular spaces of the corpus spongiosum glandis. No direct communications with the corpus spongiosum penis (csp) were demonstrated but the csp was injected from the ccp indirectly, by way of the dorsal venous system. It is suggested that these abnormalities may have been the immediate cause of impotence in these five boars. This possibility is discussed in relationship to the processes of erection and ejaculation and to various clinical signs shown by these animals. The abnormalities of venous drainage were thought to be developmental in origin and the condition may be inherited.

Headache associated with intracranial venous anomalies is well described but headache associated with extracranial venous malformation previously has not been recognized. A case of extracranial venous malformation producing vascular headache is presented.

Six young bulls (two Friesian, two Charolais, one polled Devon and one North Devon) that had never served successfully, showed good libido but lacked penile erection. In five of these bulls, the short flaccid organ was not protruded during attempted service. Radiography of the cavernous bodies and veins of the penis in the living animal demonstrated major venous drainage of the corpus cavernosum penis (ccp) by the dorsal venous system in all cases. This was not seen in normal bulls. Radiography and anatomical preparations of post mortem specimens showed that the ccp was drained by the dorsal venous system throughout the length of the organ. Proximally, the cavernous spaces of the ccp anastomosed with those of the corpus spongiosum penis (csp) and were drained by numerous small veins. Distally, a system of larger veins, not seen in normal bulls, drained into left and right sides of the dorsal venous system. No microscopical abnormalities of spermatozoa or of testes were found, but there was a marked lack of spermatozoa in the caudae epididymides. The evidence suggests that abnormal venous drainage of the ccp may have been the immediate cause of impotence in these bulls.