Zvulunov A, Barak Y, Metzker A
Dermatology Unit, Children's Medical Center of Israel, Petah Tiqwa.
Arch Dermatol. 1995 Aug;131(8):904-8.
The concurrent finding of neurofibromatosis type 1 (NF), juvenile chronic myelogenous leukemia (JCML), and juvenile xanthogranuloma (JXG) has been repeatedly reported. Juvenile chronic myelogenous leukemia has been found more frequently in patients with NF and may present with various cutaneous manifestations, including JXG. To our knowledge, the relationship among these three entities has never been explored. The purpose of the present study is to explore this relationship by using a systematic review of the literature. We present five demonstrative cases of various associations among NF, JCML, and JXG.
A family history of NF was found in 85% to 95% of children with NF and JCML (with or without JXG), as compared with that found in 47% of children with NF and JXG. The observed frequency of the triple association is 30-fold to 40-fold higher than that expected. It is estimated that children with NF and JXG have a 20-fold to 32-fold higher risk for JCML than do patients with NF who do not have JXG.
A concomitant finding of JCML and JXG in children with NF represents a true association, rather than a coincidence. A finding of JXG in an infant with NF should alert a physician to a possible development of JCML.
1型神经纤维瘤病（NF）、青少年慢性粒细胞白血病（JCML）和青少年黄色肉芽肿（JXG）同时出现的情况已有多次报道。青少年慢性粒细胞白血病在NF患者中更为常见，可能伴有包括JXG在内的各种皮肤表现。据我们所知，这三种疾病之间的关系从未被探讨过。本研究的目的是通过对文献进行系统综述来探究这种关系。我们展示了5例NF、JCML和JXG之间各种关联的病例。
在患有NF和JCML（无论有无JXG）的儿童中，85%至95%有NF家族史，而在患有NF和JXG的儿童中这一比例为47%。观察到的三联关联频率比预期高30至40倍。据估计，患有NF和JXG的儿童患JCML的风险比没有JXG的NF患者高20至32倍。
NF患儿同时出现JCML和JXG是一种真正的关联，而非巧合。NF婴儿出现JXG应提醒医生注意可能发生JCML。
