Warburg M, Tommerup N, Vestermark S, Parving A, Weismann K, Russell B, Thomsen H K
Department of Ophthalmology, University Hospital, Gentofte, Denmark.
Ophthalmic Paediatr Genet. 1990 Sep;11(3):201-7. doi: 10.3109/13816819009020980.
We have seen a Yemenite sister and brother with cutaneous hypomelanotic and pigmented spots and patches, microcornea, coloboma, severe hearing loss and normal karyotypes. Histopathological examinations of the skin showed absent melanocytes in the depigmented areas; in the normal and hyperpigmented skin there was abundant melanotic pigment. Similar patients have not been described previously, but there are corresponding mutations in mice and rats.
我们见过一对也门裔姐弟，他们有皮肤色素减退和色素沉着的斑点及斑块、小角膜、缺损、严重听力损失且核型正常。皮肤的组织病理学检查显示，色素脱失区域没有黑素细胞；在正常皮肤和色素沉着过度的皮肤中，有丰富的黑素色素。此前尚未描述过类似患者，但在小鼠和大鼠中有相应的突变。
