Sanchez N P, Rhodes A R, Mandell F, Mihm M C
Br J Dermatol. 1981 Jan;104(1):89-96. doi: 10.1111/j.1365-2133.1981.tb01717.x.
Encephalocraniocutaneous lipomatosis is a congenital neurocutaneous disorder with the distinguishing histopathological features of dysgenesis and neoplasia of the adipose tissue. The dominant clinical features of the syndrome include convulsions beginning in infancy, mental retardation, and unilateral cutaneous and ophthalmological lesions with ipsilateral cerebral malformations. A patient with this rare disorder of ectomesodermal dysgenesis has been studied in order to classify clinically and histologically the associated skin lesions. To our knowledge, this is the fourth case of encephalocraniocutaneous lipomatosis reported in the English literature.
脑颜面皮肤脂肪瘤病是一种先天性神经皮肤疾病,具有脂肪组织发育异常和肿瘤形成的独特组织病理学特征。该综合征的主要临床特征包括婴儿期开始的惊厥、智力发育迟缓,以及伴有同侧脑畸形的单侧皮肤和眼科病变。为了从临床和组织学上对相关皮肤病变进行分类,对一名患有这种罕见的外胚层中胚层发育异常疾病的患者进行了研究。据我们所知,这是英文文献中报道的第四例脑颜面皮肤脂肪瘤病。