Bertelsen Trine, Salskov-Iversen Maria Luise, Stausbøl-Grøn Birgitte, Hedelund Lene
Dermatologisk Afdeling, Aarhus Universitetshospital, P.P. Ørumsgade 11, 8000 Aarhus C.
Ugeskr Laeger. 2013 Sep 9;175(37):2118-9.
Infantile haemangiomas are the most common tumours in infants. Large facial haemangiomas are associated with posterior fossa malformations, haemangiomas, arteriel malformations, cardiac defects and eye anomalies (PHACE) syndrome in 20-31%. The diagnosis requires a large facial haemangiom and the minimum of one extracutaneous manifestation. Infants with large facial haemangiomas are in risk of PHACE syndrome and need to be referred to paediatric expertise. This case represents an infant with a large facial haemangioma, who was diagnosed with a coarctatio aortae and hence the PHACE syndrome.
婴儿血管瘤是婴儿中最常见的肿瘤。大型面部血管瘤在20%至31%的病例中与后颅窝畸形、血管瘤、动脉畸形、心脏缺陷和眼部异常(PHACE)综合征相关。诊断需要有大型面部血管瘤且至少有一项皮肤外表现。患有大型面部血管瘤的婴儿有患PHACE综合征的风险,需要转诊至儿科专家处。本病例为一名患有大型面部血管瘤的婴儿,被诊断出患有主动脉缩窄,从而确诊为PHACE综合征。