Q J Med 2015; 108:135–137 doi:10.1093/qjmed/hcu089 Advance Access Publication 22 April 2014
Case report Vascular manifestations and post-treatment changes of epidermal nevus syndrome Y.-H. JUAN1,2, P. NAGPAL1, S.S. SABOO1, Y.-C. LIN3 and A. KHANDELWAL1 From the 1Department of Radiology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA, 2Department of Medical Imaging and Intervention, Chang Gung Memorial Hospital, Linkou and Chang Gung University, Taoyuan, Taiwan and 3Department of Medical Imaging and Intervention, Chang Gung Memorial Hospital, Keelung and Chang Gung University, Taoyuan, Taiwan Address correspondence to A. Khandelwal, Brigham and Women’s Hospital, 75 Francis Street, Boston, MA 02115, USA. email: [email protected]
Epidermal nevus syndrome (ENS) can rarely present with extensive vascular involvement in the form of arterial stenoses, occlusion or aneurysm formation. Similarly the post-treatment changes can also present with residual stenoses and aneurysms. Clinicians should be aware of possible vascular involvement associated with ENS and the post-treatment changes during follow-up.
Introduction Epidermal nevus syndrome (ENS) is characterized by the presence of epidermal or sebaceous nevus, along with other organ abnormalities, most commonly involving the central nervous system, skeletal system and eye.1–3 Although ENS can have rare complication with extensive arterial involvement, such as vascular stenoses or occlusion,3 posttreatment changes can also present with residual stenoses and aneurysms. We present a posttreatment case of ENS with rare extensive vascular manifestations in the form of stenoses and aneurysm formations.
Case presentation A 33-year-old male had stigmata of ENS in the form of sebaceous nevus in the left-side head and neck region, along with left coloboma, left micro-ophthamia, cleft palate and severe levoscoliosis. Skin biopsy performed in childhood shows hamartoma of the epidermis with multiple immature sebaceous glands. Systemic hypertension was present since childhood, which led to the discovery of extensive intra-thoracic, and intra-abdominal vascular abnormalities, including long-segmental aortic coarctation, left main pulmonary ostial stenosis and obstruction of celiac artery. At the age of nine, the patient received treatment in the form of multiple transcatheter stent placements in the proximal descending aorta, proximal right innominate artery, left common carotid artery and distal descending thoracic aorta with balloon dilation of the left subclavian artery for treatment of vascular stenoses. Recent follow-up with multi-detector computed tomography angiography revealed multiple sites of residual arterial stenoses and aneurysm formations, including stenoses and aneurysms in the aortic arch and distal-descending thoracic aorta despite stent placement (Figure 1A), ostial stenosis of the left pulmonary artery, focal aneurysm in the superior left
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renal artery and occlusion of the celiac (Figure 1B) with collaterals from the intercostal arteries and left internal mammary artery (Figure 1A). Severe scoliosis was also noted along with multiple paraspinal tumors, suggestive of neurofibromas. Patient was asymptomatic at the time of follow–up, and systemic hypertension has resolved after treatment with vascular stents.
with a rare presentation of extensive arteriopathy involving several thoracic and abdominal arteries. Systemic hypertension resulting from ENS are rarely reported,2,3 but it may be due to the rarity of vascular abnormalities in ENS. Aneurysm formation has been a well-known complication associated with aortic coarctation alone; however, it can occur as vascular manifestations of ENS or as a complication related to vascular treatment, either by surgical method or endovascular approach.5
Discussion Since the first description by Solomon et al. in 1968,4 the prevalence of epidermal nevus has been estimated to be one to three per 1000 newborn.1 Vascular abnormalities in ENS are rare, and the reported vascular abnormalities included vascular coarctation, narrowing of the branches of aorta, aneurysm formation, pulmonary artery stenosis, arteriovenous malformation, patent ductus arteriosus and vascular dysplasias.3 To the best of the authors’ knowledge, there had been only one prior reported case with descriptions of the concomitant intrathoracic and intra-abdominal vascular manifestations of the ENS.3 Our patient has a wide spectral of disease involvement, including the central nervous system (left hemiatrophy, neurofibromas and subpial lipomas), skeletal system (severe levoscoliosis), ocular system (coloboma, microophthalmus) and
Conclusion ENS is a multi-system disorder that can have complication with rare extensive vascular involvement in the form of arterial stenoses, aneurysm formation or vascular occlusion. Post-treatment changes can also present with residual stenoses and aneurysms. Clinicians should be aware of possible vascular involvement associated with ENS and the posttreatment vascular changes during follow-up. Conflict of interest: None declared.
References 1. Sugarman JL. Epidermal nevus syndromes. Semin Cutan Med Surg 2007; 26:221–30.
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Figure 1. Multi-detector computed tomography angiography demonstrating post-treatment changes with extensive residual stenoses and aneurysm formation of the thoracic and abdominal vasculature. (A) Three-dimensional volume rendering image of the thoracic aorta shows visible stents in the aortic arch and descending thoracic aorta with residual stenosis of the left subclavian artery orifice (white thin arrow) and distal to the stent in aortic arch (rectangular elbow arrow), along with aneurysms in the proximal portions of stents in the aortic arch and descending thoracic aorta (triangular arrowheads). Note the abnormally dilated left internal mammary artery in the left side of the image (curve arrow), which constitutes as a collateral for the obliterated celiac trunk. (B) Three-dimensional volume-rendering image of the proximal abdominal aorta shows obliteration of the main branches of the celiac trunk (thin white arrows) with a focal aneurysm arising from the superior left renal artery (triangular arrowhead). Note a focal aneurysm in the distal to the stent placed at the descending thoracic aorta (curved arrow).
Epidermal nevus syndrome 2. Aizawa K, Nakamura T, Ohyama Y, Saito Y, Hoshino J, Kanda T, et al. Renal artery stenosis associated with epidermal nevus syndrome. Nephron 2000; 84:67–70. 3. Alsohim F, Abou-Jaoude P, Ninet J, Pracros JP, Phan A, Cochat P. Bilateral renal artery stenosis and epidermal nevus syndrome in a child. Pediatr Nephrol 2011; 26:2081–4.
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4. Solomon LM, Fretzin DF, Dewald RL. The epidermal nevus syndrome. Arch Dermatol 1968; 97:273–85. 5. Preventza O, Livesay JJ, Cooley DA, Krajcer Z, Cheong BY, Coselli JS. Coarctation-associated aneurysms: a localized disease or diffuse aortopathy. Ann Thorac Surg 2013; 95:1961–7.
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Case report Vascular manifestations and post-treatment changes of epidermal nevus syndrome Y.-H. JUAN1,2, P. NAGPAL1, S.S. SABOO1, Y.-C. LIN3 and A. KHANDELWAL1 From the 1Department of Radiology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA, 2Department of Medical Imaging and Intervention, Chang Gung Memorial Hospital, Linkou and Chang Gung University, Taoyuan, Taiwan and 3Department of Medical Imaging and Intervention, Chang Gung Memorial Hospital, Keelung and Chang Gung University, Taoyuan, Taiwan Address correspondence to A. Khandelwal, Brigham and Women’s Hospital, 75 Francis Street, Boston, MA 02115, USA. email: [email protected]
Epidermal nevus syndrome (ENS) can rarely present with extensive vascular involvement in the form of arterial stenoses, occlusion or aneurysm formation. Similarly the post-treatment changes can also present with residual stenoses and aneurysms. Clinicians should be aware of possible vascular involvement associated with ENS and the post-treatment changes during follow-up.
Introduction Epidermal nevus syndrome (ENS) is characterized by the presence of epidermal or sebaceous nevus, along with other organ abnormalities, most commonly involving the central nervous system, skeletal system and eye.1–3 Although ENS can have rare complication with extensive arterial involvement, such as vascular stenoses or occlusion,3 posttreatment changes can also present with residual stenoses and aneurysms. We present a posttreatment case of ENS with rare extensive vascular manifestations in the form of stenoses and aneurysm formations.
Case presentation A 33-year-old male had stigmata of ENS in the form of sebaceous nevus in the left-side head and neck region, along with left coloboma, left micro-ophthamia, cleft palate and severe levoscoliosis. Skin biopsy performed in childhood shows hamartoma of the epidermis with multiple immature sebaceous glands. Systemic hypertension was present since childhood, which led to the discovery of extensive intra-thoracic, and intra-abdominal vascular abnormalities, including long-segmental aortic coarctation, left main pulmonary ostial stenosis and obstruction of celiac artery. At the age of nine, the patient received treatment in the form of multiple transcatheter stent placements in the proximal descending aorta, proximal right innominate artery, left common carotid artery and distal descending thoracic aorta with balloon dilation of the left subclavian artery for treatment of vascular stenoses. Recent follow-up with multi-detector computed tomography angiography revealed multiple sites of residual arterial stenoses and aneurysm formations, including stenoses and aneurysms in the aortic arch and distal-descending thoracic aorta despite stent placement (Figure 1A), ostial stenosis of the left pulmonary artery, focal aneurysm in the superior left
! The Author 2014. Published by Oxford University Press on behalf of the Association of Physicians. All rights reserved. For Permissions, please email: [email protected]
Downloaded from by guest on November 13, 2015
Learning Point for Clinicians
136
Y.-H. Juan et al.
renal artery and occlusion of the celiac (Figure 1B) with collaterals from the intercostal arteries and left internal mammary artery (Figure 1A). Severe scoliosis was also noted along with multiple paraspinal tumors, suggestive of neurofibromas. Patient was asymptomatic at the time of follow–up, and systemic hypertension has resolved after treatment with vascular stents.
with a rare presentation of extensive arteriopathy involving several thoracic and abdominal arteries. Systemic hypertension resulting from ENS are rarely reported,2,3 but it may be due to the rarity of vascular abnormalities in ENS. Aneurysm formation has been a well-known complication associated with aortic coarctation alone; however, it can occur as vascular manifestations of ENS or as a complication related to vascular treatment, either by surgical method or endovascular approach.5
Discussion Since the first description by Solomon et al. in 1968,4 the prevalence of epidermal nevus has been estimated to be one to three per 1000 newborn.1 Vascular abnormalities in ENS are rare, and the reported vascular abnormalities included vascular coarctation, narrowing of the branches of aorta, aneurysm formation, pulmonary artery stenosis, arteriovenous malformation, patent ductus arteriosus and vascular dysplasias.3 To the best of the authors’ knowledge, there had been only one prior reported case with descriptions of the concomitant intrathoracic and intra-abdominal vascular manifestations of the ENS.3 Our patient has a wide spectral of disease involvement, including the central nervous system (left hemiatrophy, neurofibromas and subpial lipomas), skeletal system (severe levoscoliosis), ocular system (coloboma, microophthalmus) and
Conclusion ENS is a multi-system disorder that can have complication with rare extensive vascular involvement in the form of arterial stenoses, aneurysm formation or vascular occlusion. Post-treatment changes can also present with residual stenoses and aneurysms. Clinicians should be aware of possible vascular involvement associated with ENS and the posttreatment vascular changes during follow-up. Conflict of interest: None declared.
References 1. Sugarman JL. Epidermal nevus syndromes. Semin Cutan Med Surg 2007; 26:221–30.
Downloaded from by guest on November 13, 2015
Figure 1. Multi-detector computed tomography angiography demonstrating post-treatment changes with extensive residual stenoses and aneurysm formation of the thoracic and abdominal vasculature. (A) Three-dimensional volume rendering image of the thoracic aorta shows visible stents in the aortic arch and descending thoracic aorta with residual stenosis of the left subclavian artery orifice (white thin arrow) and distal to the stent in aortic arch (rectangular elbow arrow), along with aneurysms in the proximal portions of stents in the aortic arch and descending thoracic aorta (triangular arrowheads). Note the abnormally dilated left internal mammary artery in the left side of the image (curve arrow), which constitutes as a collateral for the obliterated celiac trunk. (B) Three-dimensional volume-rendering image of the proximal abdominal aorta shows obliteration of the main branches of the celiac trunk (thin white arrows) with a focal aneurysm arising from the superior left renal artery (triangular arrowhead). Note a focal aneurysm in the distal to the stent placed at the descending thoracic aorta (curved arrow).
Epidermal nevus syndrome 2. Aizawa K, Nakamura T, Ohyama Y, Saito Y, Hoshino J, Kanda T, et al. Renal artery stenosis associated with epidermal nevus syndrome. Nephron 2000; 84:67–70. 3. Alsohim F, Abou-Jaoude P, Ninet J, Pracros JP, Phan A, Cochat P. Bilateral renal artery stenosis and epidermal nevus syndrome in a child. Pediatr Nephrol 2011; 26:2081–4.
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4. Solomon LM, Fretzin DF, Dewald RL. The epidermal nevus syndrome. Arch Dermatol 1968; 97:273–85. 5. Preventza O, Livesay JJ, Cooley DA, Krajcer Z, Cheong BY, Coselli JS. Coarctation-associated aneurysms: a localized disease or diffuse aortopathy. Ann Thorac Surg 2013; 95:1961–7.
Downloaded from by guest on November 13, 2015
