A Case of H Syndrome Showing Immunophenotye Similarities to Rosai-Dorfman Disease
A Case of H Syndrome Showing Immunophenotye Similarities to Rosai-Dorfman Disease
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DOI：
10.1097/dad.0b013e3181ee547c
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发表时间：
2011-02-01
影响因子：
1.1
通讯作者：
Bergman, Reuven
中科院分区：
文献类型：
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作者：
Avitan-Hersh, Emily;Mandel, Hanna;Bergman, Reuven
H综合征（OMIM 612391）是一种最近发现的常染色体隐性遗传病，其特征是皮肤硬化、色素沉着和多毛，全身性表现包括肝脾肿大、心脏异常、听力丧失、性腺功能减退、身高低下、高甘油三酯血症、拇外翻和屈曲挛缩。H综合征是由SLC29A3基因突变引起的，该基因编码人类平衡核苷转运蛋白hENT3。皮肤组织病理学的特点是真皮中有明显的单核细胞浸润，由CD68+单核细胞衍生细胞和CD34+和因子XIIIa+树突细胞组成。我们描述了一例H综合征，其中浸润的单核细胞为CD68+、CD163+、S-100+和CD1a+，从而模拟了在Rosai-Dorfman病（RDD）中观察到的免疫表型。CD21、fasin、CD34免疫染色均为阴性，致密的单核细胞浸润内也有较多的XIIIa+因子树突细胞穿插。最近在2个家族性RDD和一个Faisalabad组织细胞增多症（OMIM 602782）的亲属中发现SLC29A3双等位基因突变，Faisalabad组织细胞增多症是一种常染色体遗传的组织细胞增多症，与RDD相似，这可能解释了我们H综合征病例中的RDD样免疫表型。
H syndrome (OMIM 612391) is a recently described autosomal recessive genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin and systemic manifestations including hepatosplenomegaly, cardiac anomalies, hearing loss, hypogonadism, low height, hypertriglyceridemia, hallux valgus, and flexion contractures. H syndrome results from mutations in the SLC29A3 gene, which encodes the human equilibrative nucleoside transporter hENT3. The cutaneous histopathology is characterized by a striking mononuclear cell infiltrate in the dermis consisting of CD68+ monocyte-derived cells and CD34+ and factor XIIIa+ dendrocytes. We describe a case of H syndrome in which the infiltrating mononuclear cells were CD68+, CD163+, S-100+, and CD1a+, thus simulating the immunophenotype observed in Rosai-Dorfman disease (RDD). The immunostaining for CD21, fascin, and CD34 were negative, and there were also many factor XIIIa+ dendrocytes interspersed within the dense mononuclear cell infiltrate. Recent findings of biallelic mutations in SLC29A3 in 2 families reported to have familial RDD and in a kindred with Faisalabad histiocytosis (OMIM 602782), which is an autosomal inherited form of histiocytosis with similarities to RDD, may explain the RDD-like immunophenotype in our H syndrome case.