Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency
Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency
复制标题
DOI：
10.1111/j.1365-2230.2009.03473.x
复制
发表时间：
2009-10
影响因子：
4.1
通讯作者：
S. Minakawa;H. Takeda;H. Nakano;C. Tono;Y. Takahashi;S. Sasaki;K. Terui;E. Ito;D. Sawamura
中科院分区：
文献类型：
--
作者：
S. Minakawa;H. Takeda;H. Nakano;C. Tono;Y. Takahashi;S. Sasaki;K. Terui;E. Ito;D. Sawamura
无汗性外胚层发育不良和免疫缺陷（EDA-ID）是一种 X 连锁隐性遗传性皮肤病，其特征是严重的湿疹、少汗、牙齿异常、脱发和免疫缺陷。我们报告一例 EDA-ID 患者出现顽固性湿疹，在同种异体脐带血移植后完全消失。一名4个月大的日本男孩，自出生以来全身出现瘙痒性皮疹，被转诊至我们诊所。体格检查发现弥漫性红斑和微红色丘疹，全身大部分有抓挠痕迹，符合特应性皮炎（图1）。此外，胸部、背部和四肢皮肤干燥，鳞片状。皮肤活检标本的组织学检查发现表皮和血管周围淋巴样海绵状变化以及真皮浅层嗜酸性粒细胞浸润。实验室研究缺乏细胞免疫。
Anhidrotic ectodermal dysplasia and immunodeficiency (EDA-ID) is an X-linked recessive genodermatosis, characterized by a severe eczematous eruption, hypohidrosis, dental anomalies, alopecia and immunodeficiency. We report a case of intractable eczematous eruption in a patient with EDA-ID, which disappeared completely after allogenic transplantation of umbilical-cord blood. A 4-month-old Japanese boy with a pruritic eruption over his whole body since birth was referred to our clinic. On physical examination, diffuse erythema and reddish papules were seen, with evidence of scratching over most of the body, which was compatible with atopic dermatitis (Fig. 1). In addition, dry skin with flaky scales was found on the chest, back and limbs. Histological examination of a skin biopsy specimen found spongiotic changes in the epidermis and perivascular lymphoid and eosinophilic infiltration in the superficial dermis. Laboratory investigations deficient cellular immunity.