Vabres P, Sevin C, Amoric J C, Odièvre M H, Saudubray J M, de Prost Y
Service de Dermatologie, Hôpital Necker-Enfants Malades, Paris.
Ann Dermatol Venereol. 1998 Oct;125(10):715-6.
Type I carbohydrate deficient glycoprotein (CDG) syndrome is an inborn hereditary error of metabolism with a broad clinical spectrum. It is characterized by partial N-glycan deficiency of glycoproteins. Skin features may be part of this syndrome in infancy.
A male infant failed to thrive, presenting psychomotor retardation, liver disease and multiple biological abnormalities. Very suggestive prominent skin manifestations were noted including abnormal subcutaneous fat with lipoma-like pads on the lower back and buttocks, thickened orange-peel skin on the limbs, thinned proximal knuckles, inverted nipples. Deficient serum transferrin sialylation and phosphomannomutase deficiency were identified confirming type I CDG syndrome.
Although inconstantly present, skin manifestations of type I CDG syndrome are very suggestive and may be the inaugural signs of the disease.
I型糖基化缺陷糖蛋白（CDG）综合征是一种先天性遗传性代谢紊乱疾病，临床谱广泛。其特征是糖蛋白部分N-聚糖缺乏。皮肤特征可能是该综合征婴儿期的一部分表现。
一名男婴生长发育迟缓，伴有精神运动发育迟缓、肝脏疾病和多种生物学异常。发现了非常具有提示性的明显皮肤表现，包括下背部和臀部有脂肪瘤样垫的异常皮下脂肪、四肢橘皮样皮肤增厚、近端指关节变细、乳头内陷。血清转铁蛋白唾液酸化缺乏和磷酸甘露糖变位酶缺乏得以确诊，证实为I型CDG综合征。
虽然I型CDG综合征的皮肤表现并非始终存在，但极具提示性，可能是该疾病的首发症状。
