4.4 Review

Skin manifestations in CDG

期刊

JOURNAL OF INHERITED METABOLIC DISEASE
卷 37, 期 5, 页码 699-708

出版社

SPRINGER
DOI: 10.1007/s10545-014-9678-7

关键词

-

资金

  1. Research Foundation (FWO) Flanders [G.0553.08, G.0505.12]
  2. ERA-Net for Research Programs on Rare Diseases Joint Transnational Call (EURO-CDG) [ERARE11-135]

向作者/读者索取更多资源

The group of congenital disorders of glycosylation (CDG) has expanded tremendously since its first description in 1980, with around 70 distinct disorders described to date. A great phenotypic variability exists, ranging from multisystem disease to single organ involvement. Skin manifestations, although inconsistently present, are part of this broad clinical spectrum. Indeed, the presence of inverted nipples, fat pads and orange peel skin in a patient with developmental delay are considered as a hallmark of CDG, particularly seen in PMM2 deficiency. However, over the years many more dermatological findings have been observed (e.g., ichthyosis, cutis laxa, tumoral calcinosisaEuro broken vertical bar). In this review we will discuss the variety of skin manifestations reported in CDG. Moreover, we will explore the possible mechanisms that link a certain glycosylation deficiency to its skin phenotype.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.4
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据