未经证实:银色头发综合征(SHS),常染色体隐性遗传性疾病,包括Chediak-Higashi综合征(CHS),格里斯切利综合征(GS),Hermansky-Pudlak综合征(HPS),和Elejalde综合征.相关的免疫和神经系统缺陷以及噬血细胞淋巴组织细胞增多症(HLH)的偏爱使其成为儿科实践中的独特实体。彻底的临床检查,床边调查,如外周血涂片(PBS)和头发显微镜,和骨髓(BM)检查是廉价和可靠的诊断工具。
未经授权:我们报告了12例SHS(CHS,n=06;GS,n=04;HPS,n=02)。
未经评估:12名SHS儿童(CHS-05,GS-03)中有8名出现HLH。5例CHS合并HLH,2死了,第3位是稳定的化疗后;第4位完成化疗,进行了匹配的相关造血干细胞移植(HSCT),并且是稳定的8个月的治疗。第5名儿童完成化疗,正在移植。一个没有HLH的CHS儿童在没有任何治疗的情况下蓬勃发展。在4个一般事务案件中,3患者接受HLH治疗并接受化疗(HLH2004方案)。一个在最初缓解后失去随访;另一个在治疗后7个月复发,并停止了进一步治疗。第三个孩子在初次化疗后1.5年复发;HLH2004方案重新启动,然后从匹配的同胞供体进行HSCT;目前情况良好,移植后2.5年。一名GS患儿有神经系统特征,没有HLH的证据,没有接受治疗。在2名患有HPS的儿童中,一个出现严重的败血症,另一个出现神经系统问题。他们被对症管理。
未经批准:在带有HLH的SHS中,化疗后进行异基因造血干细胞移植是一种有希望的治疗选择.
UNASSIGNED: Silvery Hair Syndromes (SHS), an autosomal recessive inherited disorder, includes Chediak-Higashi syndrome (CHS), Griscelli syndrome (GS), Hermansky-Pudlak syndrome (HPS), and Elejalde syndrome. Associated immunological and neurological defects and predilection for hemophagocytic lymphohistiocytosis (HLH) makes them a distinctive entity in pediatric practice. Thorough clinical examination, bedside investigations such as peripheral blood smear (PBS) and hair microscopy, and bone marrow (BM) examination are inexpensive and reliable diagnostic tools.
UNASSIGNED: We report 12 cases with SHS (CHS, n = 06; GS, n = 04; HPS, n = 02).
UNASSIGNED: 8 out of 12 SHS children (CHS-05, GS-03) presented with HLH. Out of 5 cases of CHS with HLH, 2 died, 3rd is stable post-chemotherapy; 4th completed chemotherapy, underwent matched related hematopoietic stem cell transplant (HSCT), and is stable 8 months off treatment. The 5th child completed chemotherapy and is in process of transplant. One CHS child without HLH is thriving without any treatment. Of the 4 GS cases, 3 presented with HLH and received chemotherapy (HLH 2004 protocol). One lost follow-up after initial remission; another had recurrence 7 months off treatment and discontinued further treatment. The third child had recurrence 1.5 years after initial chemotherapy; HLH 2004 protocol was restarted followed by HSCT from matched sibling donor; is currently well, 2.5 years post-transplant. One child with GS had neurological features with no evidence of HLH and did not take treatment. Of 2 children with HPS, one presented with severe sepsis and the other with neurological problems. They were managed symptomatically.
UNASSIGNED: In SHS with HLH, chemotherapy followed by allogeneic hematopoietic stem cell transplantation is a promising curative option.