Publication: E0pidermal nevüs sendromu: Bir vaka takdimi
Abstract
Epidermal nevus sendromu (Schimmelpenning sendromu, Feuerstein ve Mimms sendromu) epidermal nevüs ile birlikte özellikle deri, göz, sinir sistemi, kardiovasküler sistem ve ürogenital sisteme ait çeşitli gelişimsel anomalilerin birarada olduğu seyrek görülen bir sendromdur. Hastaların %10'unda üç ve daha fazla anomali bulunmaktadır. Bu yazıda epidermal nevüsle birlikte patent duktus arteriozus, abdusens paralizisi ve kulakta Mondini deformitesi saptadığımız bir hastamız sunulmuştur. Dört yaşında kız hasta işitme kaybı nedeni ile odyolojik değerlendirme yapılmak üzere hastanemize getirildi. Fizik muayenesinde sol kolda dorsal yüzde 10x3 cm boyutlarında deriden kabarık, yüzeyi pürtüklü, sarı-kahverengi lineer nevüs, sol klavikula altında devamlı üfürüm ve sol gözde abdusens paralizisi saptandı. Ekokardiyografık incelemesinde geniş bir patent duktus arteriozus görüldü. Başvurusundan altı ay önce koklear implant uygulanmış olan hastanın temporal kemik ve kranial tomografi incelemelerinde Mondini deformitesi ile uyumlu iç kulak deformitesi vardı. Bu bulgularla epidermal nevüs sendromu olarak değerlendirilen hasta deri bulgularının önemi ve eşlik edebilecek multipl anomalilerin araştırılması gereğini vurgulaması açısından ilginç bulundu.
Epidermal nevus syndrome (Schimmelpenning syndrome, Feuerstein and Mims syndrome) is; the association of epidermal nevus with various developmental abnormalities such as eye, central nervous system, cardiovascular system and urogenital system anomalies. Three or more different anomalies are found together in 10% of the patients. We present a case in which epidermal nevus was found to be associated with patent ductus arteriosus, abducens paralysis and Mondini deformity of the inner ear. A 4-year-old girl was admitted to our clinic for audiologic evaluation. Her physical examination revealed an epidermal nevus with rough surface and yellow-brown discoloration, a continuous murmur audible on the subclavicular region and abducens paralysis of the left eye. Echocardiography showed a large patent ductus arteriosus. Cranial CT showed temporal bone anomaly consistent with Mondini deformity. The patient was diagnosed to have epidermal nevus syndrome. In conclusion, in patients with such cutaneous findings, presence of multiple systemic anomalies must be considered and investigated.
Epidermal nevus syndrome (Schimmelpenning syndrome, Feuerstein and Mims syndrome) is; the association of epidermal nevus with various developmental abnormalities such as eye, central nervous system, cardiovascular system and urogenital system anomalies. Three or more different anomalies are found together in 10% of the patients. We present a case in which epidermal nevus was found to be associated with patent ductus arteriosus, abducens paralysis and Mondini deformity of the inner ear. A 4-year-old girl was admitted to our clinic for audiologic evaluation. Her physical examination revealed an epidermal nevus with rough surface and yellow-brown discoloration, a continuous murmur audible on the subclavicular region and abducens paralysis of the left eye. Echocardiography showed a large patent ductus arteriosus. Cranial CT showed temporal bone anomaly consistent with Mondini deformity. The patient was diagnosed to have epidermal nevus syndrome. In conclusion, in patients with such cutaneous findings, presence of multiple systemic anomalies must be considered and investigated.