Department of Obstetrics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, The Netherlands.
J Perinatol. 2010 Jun;30(6):434-6. doi: 10.1038/jp.2009.156.
Albinism is an autosomal recessive disorder that is caused by a defective synthesis of melanin, resulting in a generalized reduction of pigmentation in the skin, hair and eyes, and leading to an increased risk of skin cancer and vision problems. We report a case of a 22-year-old primigravida of Negroid origin who delivered dichorial diamniotic twins: two daughters were born with a totally different appearance. The first child had a light brown skin, black curly hair and brown eyes, whereas the second had a striking white skin, red-blond curly hair and blue eyes. Oculocutaneous albinism (OCA) and heteropaternal superfecundation were considered in the differential diagnosis. Genetic testing confirmed the diagnosis of OCA type 2 in the second child. The diagnosis of albinism has clinical implications and must be considered when a black and white twin is born.
白化病是一种常染色体隐性遗传病，由于黑色素合成缺陷引起，导致皮肤、毛发和眼睛的色素普遍减少，增加了皮肤癌和视力问题的风险。我们报告了一例 22 岁的黑人初产妇产下异卵双胎：两个女儿出生时外貌完全不同。第一个孩子皮肤浅棕色，头发黑卷，眼睛棕色，而第二个孩子皮肤雪白，红金色卷发，眼睛蓝色。在鉴别诊断中考虑了眼皮肤白化病（OCA）和异父多精受精。基因检测证实第二个孩子患有 OCA 2 型。当黑白双胞胎出生时，白化病的诊断具有临床意义，必须考虑到这一点。
