科研之友
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摘要
In the present paper we report on a Taiwanese case of X-linked recessive dyskeratosis congenita (DC), confirmed by detection of a 214 C -> T mutation in the DKC1 gene, and provide a detailed description of mottled pigmentary changes of the skin, specifically numerous small, whitish macules dispersed against a background of diffuse, finely reticulated hyperpigmentation. The hypopigmented macules showed no discernible erythema upon rubbing or the local application of heat. The naevus anaemicus-like macules may be a relatively common but under-recognized feature in DC. More studies are required to determine the incidence and histopathology of these macules.
- 出版日期2011-5
