Oranje A P
Pediatr Dermatol. 1986 Sep;3(4):304-10. doi: 10.1111/j.1525-1470.1986.tb00530.x.
Blue rubber bleb nevus syndrome (BRBN) is a rare disease entity of which at least 22 cases of pediatric origin have been described since 1958. Only a few known cases have developed in adulthood. This syndrome is characterized by cutaneous, usually multiple, cavernous hemangiomas associated with similar lesions of the gastrointestinal tract. The cutaneous hemangiomas are a variant of the cavernous type, which are generally soft, rubbery, and compressible. Most cases are sporadic, although autosomal dominant inheritance has been described. Complications of this syndrome may include gastrointestinal bleeding leading to anemia, amputations of extremities, and hematologic disturbances such as chronic consumption coagulopathy. Children suffering from BRBN syndrome should be surveyed extensively for comprehensive care. This syndrome is important to consider in cases of unexplained intestinal bleeding. Therapy is mainly symptomatic and directed to complications.
蓝色橡皮疱痣综合征(BRBN)是一种罕见的疾病实体,自1958年以来,至少已描述了22例儿科病例。已知仅有少数病例在成年期发病。该综合征的特征是皮肤出现通常为多发性的海绵状血管瘤,并伴有胃肠道的类似病变。皮肤血管瘤是海绵状类型的一种变体,通常质地柔软、有弹性且可压缩。大多数病例为散发性,不过也有常染色体显性遗传的描述。该综合征的并发症可能包括导致贫血的胃肠道出血、肢体截肢以及血液系统紊乱,如慢性消耗性凝血病。患有BRBN综合征的儿童应接受全面检查以获得综合治疗。在不明原因肠道出血的病例中,需要考虑这种综合征。治疗主要是对症治疗,并针对并发症。