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先天性角化不良还是慢性移植物抗宿主病?再生障碍性贫血骨髓移植八年后一名儿童面临的诊断困境。

Dyskeratosis congenita or chronic graft-versus-host disease? A diagnostic dilemma in a child eight years after bone marrow transplantation for aplastic anemia.

作者信息

Ivker R A, Woosley J, Resnick S D

机构信息

Department of Dermatology, University of North Carolina at Chapel Hill 27514.

出版信息

Pediatr Dermatol. 1993 Dec;10(4):362-5. doi: 10.1111/j.1525-1470.1993.tb00400.x.

DOI:10.1111/j.1525-1470.1993.tb00400.x
PMID:8302741
Abstract

A 12-year-old boy had striking reticulate hyperpigmentation of the neck and upper chest, dystrophic nails, patchy alopecia, and a white streak on the buccal mucosa. He was diagnosed as having chronic graft-versus-host disease (GVHD) based on clinical findings, skin biopsy findings, and his history of a bone marrow transplantation for aplastic anemia eight years earlier. Dyskeratosis congenita (DC) was not a diagnostic consideration, although the clinical findings and history of aplastic anemia made it a compelling possibility. This case highlights the clinical similarities between DC and chronic GVHD and the difficulty in arriving at an unequivocal diagnosis.

摘要

一名12岁男孩颈部和上胸部有明显的网状色素沉着、甲营养不良、斑秃,颊黏膜有白色条纹。根据临床表现、皮肤活检结果以及他八年前因再生障碍性贫血接受骨髓移植的病史,他被诊断为患有慢性移植物抗宿主病(GVHD)。尽管临床表现和再生障碍性贫血病史使先天性角化不良(DC)成为一种很有可能的诊断,但并未将其作为诊断考虑。该病例突出了DC与慢性GVHD之间的临床相似性以及明确诊断的困难。

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