Grimalt R, Ermacora E, Mistura L, Russo G, Tadini G L, Triulzi F, Cavicchini S, Rondanini G F, Caputo R
First Department of Dermatology and Pediatric Dermatology, University of Milan, IRCCS, Ospedale Maggiore, Italy.
Pediatr Dermatol. 1993 Jun;10(2):164-8. doi: 10.1111/j.1525-1470.1993.tb00047.x.
Encephalocraniocutaneous lipomatosis is a congenital disorder characterized by unilateral cerebral malformations and ipsilateral scalp, face, and eye lesions. Distinguishing histopathologic features are dysgenesis and neoplasia of the adipose tissue. A Caucasian boy had soft tumors and elastic papules on his head since birth, associated with atrophic areas, and a bilobed lesion on the upper right eyelid. On the bulbar conjunctiva of the right eye, an oval 6-mm lesion was present. Ultrasonogram, computerized tomographic scan, and magnetic resonance imaging revealed a dilation of the right lateral ventriculus, a mass on the pontocerebellar angle, agenesia of the corpus callosum, an arachnoidal cyst on the right hemisphere, microcalcifications, and pachygyria. The histology of a soft cutaneous tumor was consistent with a fibrolipoma, and dispersed extracellular lipid globules in the upper dermis were found on electron microscopy. The diagnosis suggested by these findings was encephalocraniocutaneous lipomatosis. Even in view of the rarity of the syndrome (11 cases described in the literature), this patient seems unusual because of the bilateral distribution of the cutaneous lesions and because of the agenesia of the corpus callosum. The peculiar ultrastructural findings require further confirmation.
脑颅皮肤脂肪瘤病是一种先天性疾病，其特征为单侧脑畸形以及同侧头皮、面部和眼部病变。具有鉴别意义的组织病理学特征是脂肪组织发育异常和肿瘤形成。一名白人男孩自出生起头部就有软肿瘤和弹性丘疹，伴有萎缩区域，右上眼睑有一个分叶状病变。右眼的球结膜上有一个6毫米的椭圆形病变。超声检查、计算机断层扫描和磁共振成像显示右侧侧脑室扩张、桥小脑角有肿块、胼胝体发育不全、右半球有蛛网膜囊肿、微钙化和巨脑回。一个皮肤软肿瘤的组织学表现与纤维脂肪瘤一致，电子显微镜检查发现真皮上层有散在的细胞外脂质球。这些发现提示的诊断为脑颅皮肤脂肪瘤病。即使考虑到该综合征的罕见性（文献中描述了11例），该患者似乎也不寻常，因为皮肤病变为双侧分布且存在胼胝体发育不全。其特殊的超微结构发现需要进一步证实。
