ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS - CASE-REPORT AND REVIEW OF THE LITERATURE

被引：33

作者：

GRIMALT, R ^{[1
]}

ERMACORA, E ^{[1
]}

MISTURA, L ^{[1
]}

RUSSO, G ^{[1
]}

TADINI, GL ^{[1
]}

TRIULZI, F ^{[1
]}

CAVICCHINI, S ^{[1
]}

RONDANINI, GF ^{[1
]}

CAPUTO, R ^{[1
]}

机构：

[1] UNIV MILAN,OSPED MAGGIORE,IRCCS,DEPT DERMATOL & PEDIAT DERMATOL 1,I-20122 MILAN,ITALY

来源：

PEDIATRIC DERMATOLOGY | 1993年 / 10卷 / 02期

关键词：

D O I：

10.1111/j.1525-1470.1993.tb00047.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

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.

引用

页码：164 / 168

页数：5

共 17 条

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