569208
research-article2015
CPJXXX10.1177/0009922815569208Clinical PediatricsVuong et al
Resident Round
Nasal Root Venous Malformation
Clinical Pediatrics 2015, Vol. 54(7) 700–702 © The Author(s) 2015 Reprints and permissions: sagepub.com/journalsPermissions.nav DOI: 10.1177/0009922815569208 cpj.sagepub.com
Kim T. Vuong1, Katherine M. Varman, MD1, Joseph Stavas, MD1, and Dean S. Morrell, MD1
Case Report An 8-year-old, otherwise healthy girl presents with a 2-month history of focal swelling in her right nasal root area. The swelling improves when she sits upright and worsens with supine positioning, facial movements, and physical activity. The mother reports prominent veins on her nose since birth and smaller superficial vessels on her eyelids and chin. She has diminished visual acuity, a “popping” sensation in the corner of her right eye, and nasal congestion with tenderness. Because of significant pain caused by the nasal swelling and improperly fitting eyeglasses, she experienced difficulties in school and began homeschooling. She was unable to play softball because of inability to see without her eyeglasses. After a prior sinus computed tomography scan revealed an ethmoid sinus infection, she was treated with antibiotics. Her fever and tenderness resolved but the swelling was unchanged. There is no history of nasal trauma, relevant family history, or other areas of similar swelling. Examination revealed an ill-defined, nonpulsatile, nontender, reducible subcutaneous mass with surrounding soft tissue edema on the right aspect of the nasal root. Mild yellowish discoloration of the nasal bridge with 2 overlying dilated veins were noted, but no pigment, nodularity, or epidermal changes were present. The mass and edema are most visible when in a Trendelenburg position and bulge with Valsalva maneuvers (Figure 1A). The fullness decreases quickly on sitting upright (Figure 1B).
Clinical Course After being seen by 17 physicians with workup including sinus computed tomography, brain magnetic resonance imaging (MRI), magnetic resonance angiography/venography, nasal endoscopy, chest radiography, and bloodwork, a Doppler ultrasound and MRI were performed. Doppler ultrasound over the right nasal bridge showed a small soft tissue mass containing numerous dilated slow flow veins. Axial T2-weighted MRI at the level of the upper nares and ethmoid sinus revealed a 1.7 × 0.7 × 0.6 cm high signal, homogenously enhancing irregular soft tissue mass in the subcutaneous region closely associated
with the right angular vein (Figure 2). Incidental ethmoid mucosal edema was present, and the adjacent nasal bone was dehiscent, suggesting a slowly growing chronic lesion. Surgical excision was considered but, because of proximity to the eye and possible cosmetic morbidity, percutaneous sclerotherapy was performed instead and swelling rapidly resolved. Digital subtraction venogram during direct needle puncture of the malformation showed venous outflow in a medial periorbital vein. The venous egress was compressed in order to avoid optic or intracranial effects of sclerotherapy agent. There were no complications following sclerotherapy, and no other treatment was given. At the 2-month posttreatment follow-up, the venous malformation (VM) remained asymptomatic and the patient’s eyeglasses were able to fit, allowing her to return to school and return to playing softball. No additional follow-up was needed at this time, but the possibility of recurrence during puberty, pregnancy, or due to trauma was explained to the patient’s mother.
Diagnosis Nasal root venous malformation.
Discussion Patients with VMs often experience high rates of misdiagnosis because of challenges in distinguishing VMs from other vascular anomalies. Classification of vascular abnormalities can be based on both vascular kinetics and clinical aspects.1 Two major classifications include vascular tumors, which are caused by endothelial hyperplasia and vascular malformations, which are due to dysmorphogenesis rather than abnormal endothelial growth.1 Hemangiomas are the most common type of vascular tumor, occurring on the skin of 4% to 10% of infants.2 Because of their prevalence, VMs are frequently misdiagnosed as hemangiomas despite biologic 1
University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
Corresponding Author: Kim T. Vuong, 9925 Park Walk West, Charlotte, NC 28269, USA. Email: [email protected]
Vuong et al
701
Figure 1. Trendelenburg positioning (A) and sitting upright (B).
Figure 2. Axial T2 WI MRI at the level of the upper nares and ethmoid sinus.
and pathologic differences. Hemangiomas are well circumscribed and exhibit rapid neonatal proliferative growth with hypercellularity, followed by diminished cellularity, and eventual involutional fibrosis.3 In comparison, vascular malformations, such as VMs, are due to errors in embryonic development during angiogenesis or vasculogenesis.1 They are also present at birth but are less well-circumscribed, have normal growth rates commensurate with the child, and are composed of normal, flat endothelial-lined vascular spaces.3 Unlike hemangiomas, vascular malformations do not regress.2 Instead, these malformations remain stable throughout the child’s life but enlarge in response to trauma or hormonal changes such as during puberty or pregnancy.2 Vascular malformations can be further classified based on histology of the abnormality, flow characteristics of low flow or high flow, and clinical behavior.4
Venous malformations are the most common type of vascular malformations and are abnormal collections of dilated, thin-walled vessels resembling veins. VMs are hemodynamically variable and can involve multiple layers from the skin to muscle. Common sites include the head and neck (40%), extremities (40%), and trunk (20%), with VMs in the craniofacial area tending to be more superficial.1,2,5 VM lesions are soft, compressible, can appear blue-tinged if more superficial, and may enlarge with Valsalva or dependent positioning when located on the head or neck.2,5 These lesions can have associated superficial ecchymoses, telangiectasias, varicosities, or phleboliths.3 VMs often present clinically due to potential disfigurement, swelling, and symptoms of pain or mass effect on adjacent structures. Pain from these malformations can be due to intermittent swelling, congestion within the VM, or the formation of phleboliths.1 Venous malformations can be diagnosed clinically, but differentiation from other vascular malformations or masses requires imaging. MRI is the most informative imaging technique and can be used to differentiate VMs based on the presence of vascular spaces as well as identify any phleboliths or thrombi.2 Doppler ultrasound can be used to differentiate between a high-flow lesion such as arteriovenous malformation and a low-flow lesion such as a VM. MRI is the imaging modality of choice for VMs because of improved soft tissue characterization, ability to determine degree of flow, and multiplanar reconstruction.3 MRI findings can define the internal architecture of the malformation and its relation to adjacent structures, influencing management decisions and assessing therapeutic outcomes. Contrast computed tomography is of limited use but can reveal adjacent bony pathology and the anatomic location of the lesion.3 Treatment of VMs is conservative. If a VM is asymptomatic, no interventional methods should be performed, but the patient should be informed of possible growth
702 during puberty and pregnancy, the importance of avoiding trauma to the area, and the need for elastic support stockings for extremity lesions.1 Low-dose aspirin can be taken daily to minimize the formation of painful phlebothromboses.6 If a VM causes significant functional impairment, pain, or disfigurement, treatment with sclerotherapy or surgical excision is indicated. Percutaneous image-guided sclerotherapy performed by an experienced interventional radiologist is the mainstay of treatment.2 Sclerotherapy is effective in treating small VMs but recurrence is common and additional treatments may be required if the malformation is large, symptoms persist, or recanalization occurs.6 Sclerotherapy involves the injection of a sclerosant, commonly sodium tetradecyl sulfate or ethanol, into the vascular space of the VM.3 Injected sclerosants chemically irritate vascular endothelial cells, leading to activation of the coagulation system and thrombotic obliteration of the venous anomaly and outflow vein.5 Sodium tetradecyl sulfate is preferred as a sclerosing agent because it is less toxic and is associated with less frequent skin necrosis, neurologic complications, and systemic complications.6 Anaphylactic reaction to sodium tetradecyl sulfate is rare but has been reported.6 Local complications include nerve damage, skin blistering or ulceration, or cutaneous necrosis of nearby regions.6 Systemic complications include hemolysis, renal toxicity, and cardiac arrest.6 There is a small postprocedural risk of deep vein thrombosis, bleeding, and skin ulceration.5 For select patients, especially those with larger VMs, a coagulative profile should be performed and the patient should receive prophylactic low-molecular-weight heparin.5 Surgical excision is indicated if a VM remains despite sclerotherapy or if the location of the VM requires reconstructive operations.1 Surgical excision is more successful if a lesion is well localized and small.
Conclusion The patient presented here saw 17 physicians before she was correctly diagnosed and treated. Because of
Clinical Pediatrics 54(7) their relative infrequency, VMs are often poorly understood and misdiagnosed, leading to numerous physician visits and unnecessary and ineffective treatments. Malformations are a multidisciplinary process often requiring treatment from different specialists, and location and characteristics of the lesion help determine best treatment modality. While the diagnosis can be made clinically, Doppler ultrasound with MRI should be considered in a child with focal swelling that enlarges with dependent positioning and the Valsalva maneuver. Declaration of Conflicting Interests The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding The author(s) received no financial support for the research, authorship, and/or publication of this article.
References 1. Kumar S, Kumar V, Kumar S, Kumar S. Management strategy for facial venous malformations. Natl J Maxillofac Surg. 2014;5:93-96. doi:10.4103/0975-5950.140188. 2. Mulliken JB, Fishman SJ, Burrows PE. Vascular anomalies. Curr Probl Surg. 2000;37:517-584. 3. Legiehn GM, Heran MK. Venous malformations: classification, development, diagnosis, and interventional radiologic management. Radiol Clin North Am. 2008;46:545-597, vi. doi:10.1016/j.rcl.2008.02.008. 4. Enjolras O. Classification and management of the various superficial vascular anomalies: hemangiomas and vascular malformations. J Dermatol. 1997;24:701-710. 5. Redondo P. The hidden face of venous malformations: a multidisciplinary therapeutic approach. Arch Dermatol. 2008;144:922-926. doi:10.1001/archderm.144.7.922. 6. Legiehn GM, Heran MK. Classification, diagnosis, and interventional radiologic management of vascular malformations. Orthop Clin North Am. 2006;37:435-474, vii-viii.
Copyright of Clinical Pediatrics is the property of Sage Publications Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
research-article2015
CPJXXX10.1177/0009922815569208Clinical PediatricsVuong et al
Resident Round
Nasal Root Venous Malformation
Clinical Pediatrics 2015, Vol. 54(7) 700–702 © The Author(s) 2015 Reprints and permissions: sagepub.com/journalsPermissions.nav DOI: 10.1177/0009922815569208 cpj.sagepub.com
Kim T. Vuong1, Katherine M. Varman, MD1, Joseph Stavas, MD1, and Dean S. Morrell, MD1
Case Report An 8-year-old, otherwise healthy girl presents with a 2-month history of focal swelling in her right nasal root area. The swelling improves when she sits upright and worsens with supine positioning, facial movements, and physical activity. The mother reports prominent veins on her nose since birth and smaller superficial vessels on her eyelids and chin. She has diminished visual acuity, a “popping” sensation in the corner of her right eye, and nasal congestion with tenderness. Because of significant pain caused by the nasal swelling and improperly fitting eyeglasses, she experienced difficulties in school and began homeschooling. She was unable to play softball because of inability to see without her eyeglasses. After a prior sinus computed tomography scan revealed an ethmoid sinus infection, she was treated with antibiotics. Her fever and tenderness resolved but the swelling was unchanged. There is no history of nasal trauma, relevant family history, or other areas of similar swelling. Examination revealed an ill-defined, nonpulsatile, nontender, reducible subcutaneous mass with surrounding soft tissue edema on the right aspect of the nasal root. Mild yellowish discoloration of the nasal bridge with 2 overlying dilated veins were noted, but no pigment, nodularity, or epidermal changes were present. The mass and edema are most visible when in a Trendelenburg position and bulge with Valsalva maneuvers (Figure 1A). The fullness decreases quickly on sitting upright (Figure 1B).
Clinical Course After being seen by 17 physicians with workup including sinus computed tomography, brain magnetic resonance imaging (MRI), magnetic resonance angiography/venography, nasal endoscopy, chest radiography, and bloodwork, a Doppler ultrasound and MRI were performed. Doppler ultrasound over the right nasal bridge showed a small soft tissue mass containing numerous dilated slow flow veins. Axial T2-weighted MRI at the level of the upper nares and ethmoid sinus revealed a 1.7 × 0.7 × 0.6 cm high signal, homogenously enhancing irregular soft tissue mass in the subcutaneous region closely associated
with the right angular vein (Figure 2). Incidental ethmoid mucosal edema was present, and the adjacent nasal bone was dehiscent, suggesting a slowly growing chronic lesion. Surgical excision was considered but, because of proximity to the eye and possible cosmetic morbidity, percutaneous sclerotherapy was performed instead and swelling rapidly resolved. Digital subtraction venogram during direct needle puncture of the malformation showed venous outflow in a medial periorbital vein. The venous egress was compressed in order to avoid optic or intracranial effects of sclerotherapy agent. There were no complications following sclerotherapy, and no other treatment was given. At the 2-month posttreatment follow-up, the venous malformation (VM) remained asymptomatic and the patient’s eyeglasses were able to fit, allowing her to return to school and return to playing softball. No additional follow-up was needed at this time, but the possibility of recurrence during puberty, pregnancy, or due to trauma was explained to the patient’s mother.
Diagnosis Nasal root venous malformation.
Discussion Patients with VMs often experience high rates of misdiagnosis because of challenges in distinguishing VMs from other vascular anomalies. Classification of vascular abnormalities can be based on both vascular kinetics and clinical aspects.1 Two major classifications include vascular tumors, which are caused by endothelial hyperplasia and vascular malformations, which are due to dysmorphogenesis rather than abnormal endothelial growth.1 Hemangiomas are the most common type of vascular tumor, occurring on the skin of 4% to 10% of infants.2 Because of their prevalence, VMs are frequently misdiagnosed as hemangiomas despite biologic 1
University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
Corresponding Author: Kim T. Vuong, 9925 Park Walk West, Charlotte, NC 28269, USA. Email: [email protected]
Vuong et al
701
Figure 1. Trendelenburg positioning (A) and sitting upright (B).
Figure 2. Axial T2 WI MRI at the level of the upper nares and ethmoid sinus.
and pathologic differences. Hemangiomas are well circumscribed and exhibit rapid neonatal proliferative growth with hypercellularity, followed by diminished cellularity, and eventual involutional fibrosis.3 In comparison, vascular malformations, such as VMs, are due to errors in embryonic development during angiogenesis or vasculogenesis.1 They are also present at birth but are less well-circumscribed, have normal growth rates commensurate with the child, and are composed of normal, flat endothelial-lined vascular spaces.3 Unlike hemangiomas, vascular malformations do not regress.2 Instead, these malformations remain stable throughout the child’s life but enlarge in response to trauma or hormonal changes such as during puberty or pregnancy.2 Vascular malformations can be further classified based on histology of the abnormality, flow characteristics of low flow or high flow, and clinical behavior.4
Venous malformations are the most common type of vascular malformations and are abnormal collections of dilated, thin-walled vessels resembling veins. VMs are hemodynamically variable and can involve multiple layers from the skin to muscle. Common sites include the head and neck (40%), extremities (40%), and trunk (20%), with VMs in the craniofacial area tending to be more superficial.1,2,5 VM lesions are soft, compressible, can appear blue-tinged if more superficial, and may enlarge with Valsalva or dependent positioning when located on the head or neck.2,5 These lesions can have associated superficial ecchymoses, telangiectasias, varicosities, or phleboliths.3 VMs often present clinically due to potential disfigurement, swelling, and symptoms of pain or mass effect on adjacent structures. Pain from these malformations can be due to intermittent swelling, congestion within the VM, or the formation of phleboliths.1 Venous malformations can be diagnosed clinically, but differentiation from other vascular malformations or masses requires imaging. MRI is the most informative imaging technique and can be used to differentiate VMs based on the presence of vascular spaces as well as identify any phleboliths or thrombi.2 Doppler ultrasound can be used to differentiate between a high-flow lesion such as arteriovenous malformation and a low-flow lesion such as a VM. MRI is the imaging modality of choice for VMs because of improved soft tissue characterization, ability to determine degree of flow, and multiplanar reconstruction.3 MRI findings can define the internal architecture of the malformation and its relation to adjacent structures, influencing management decisions and assessing therapeutic outcomes. Contrast computed tomography is of limited use but can reveal adjacent bony pathology and the anatomic location of the lesion.3 Treatment of VMs is conservative. If a VM is asymptomatic, no interventional methods should be performed, but the patient should be informed of possible growth
702 during puberty and pregnancy, the importance of avoiding trauma to the area, and the need for elastic support stockings for extremity lesions.1 Low-dose aspirin can be taken daily to minimize the formation of painful phlebothromboses.6 If a VM causes significant functional impairment, pain, or disfigurement, treatment with sclerotherapy or surgical excision is indicated. Percutaneous image-guided sclerotherapy performed by an experienced interventional radiologist is the mainstay of treatment.2 Sclerotherapy is effective in treating small VMs but recurrence is common and additional treatments may be required if the malformation is large, symptoms persist, or recanalization occurs.6 Sclerotherapy involves the injection of a sclerosant, commonly sodium tetradecyl sulfate or ethanol, into the vascular space of the VM.3 Injected sclerosants chemically irritate vascular endothelial cells, leading to activation of the coagulation system and thrombotic obliteration of the venous anomaly and outflow vein.5 Sodium tetradecyl sulfate is preferred as a sclerosing agent because it is less toxic and is associated with less frequent skin necrosis, neurologic complications, and systemic complications.6 Anaphylactic reaction to sodium tetradecyl sulfate is rare but has been reported.6 Local complications include nerve damage, skin blistering or ulceration, or cutaneous necrosis of nearby regions.6 Systemic complications include hemolysis, renal toxicity, and cardiac arrest.6 There is a small postprocedural risk of deep vein thrombosis, bleeding, and skin ulceration.5 For select patients, especially those with larger VMs, a coagulative profile should be performed and the patient should receive prophylactic low-molecular-weight heparin.5 Surgical excision is indicated if a VM remains despite sclerotherapy or if the location of the VM requires reconstructive operations.1 Surgical excision is more successful if a lesion is well localized and small.
Conclusion The patient presented here saw 17 physicians before she was correctly diagnosed and treated. Because of
Clinical Pediatrics 54(7) their relative infrequency, VMs are often poorly understood and misdiagnosed, leading to numerous physician visits and unnecessary and ineffective treatments. Malformations are a multidisciplinary process often requiring treatment from different specialists, and location and characteristics of the lesion help determine best treatment modality. While the diagnosis can be made clinically, Doppler ultrasound with MRI should be considered in a child with focal swelling that enlarges with dependent positioning and the Valsalva maneuver. Declaration of Conflicting Interests The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding The author(s) received no financial support for the research, authorship, and/or publication of this article.
References 1. Kumar S, Kumar V, Kumar S, Kumar S. Management strategy for facial venous malformations. Natl J Maxillofac Surg. 2014;5:93-96. doi:10.4103/0975-5950.140188. 2. Mulliken JB, Fishman SJ, Burrows PE. Vascular anomalies. Curr Probl Surg. 2000;37:517-584. 3. Legiehn GM, Heran MK. Venous malformations: classification, development, diagnosis, and interventional radiologic management. Radiol Clin North Am. 2008;46:545-597, vi. doi:10.1016/j.rcl.2008.02.008. 4. Enjolras O. Classification and management of the various superficial vascular anomalies: hemangiomas and vascular malformations. J Dermatol. 1997;24:701-710. 5. Redondo P. The hidden face of venous malformations: a multidisciplinary therapeutic approach. Arch Dermatol. 2008;144:922-926. doi:10.1001/archderm.144.7.922. 6. Legiehn GM, Heran MK. Classification, diagnosis, and interventional radiologic management of vascular malformations. Orthop Clin North Am. 2006;37:435-474, vii-viii.
Copyright of Clinical Pediatrics is the property of Sage Publications Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
