Encephalocraniocutaneous lipomatosis: Case report and review of the literature

R. Grimalt, E. Ermacora, L. Mistura, G. Russo, G. L. Tadini, F. Triulzi, S. Cavicchini, G. F. Rondanini, R. Caputo

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)164-168
Number of pages5
JournalPediatric Dermatology
Issue number2
Publication statusPublished - 1993

ASJC Scopus subject areas

  • Dermatology
  • Pediatrics, Perinatology, and Child Health


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