Encephalocraniocutaneous lipomatosis

A rare, genetic skin disease characterized by the ocular, cutaneous, and central nervous system anomalies. Typical clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas, leading sometimes to seizures, spasticity, and intellectual disability. Nevus psiloliparus, focal dermal hypo- or aplasia, eyelid skin tags, colobomas, abnormal intracranial vessels, hemispheric atrophy, porencephalic cyst, and hydrocephalus have also been associated.

Hemihypertrophy

Overgrowth of only one side of the body.


Total: 1

                      


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PMID (PMCID)
8313622
MALE Infant, Newborn
Cranial hemihypertrophy with ipsilateral naevoid streaks, intellectual handicap and epilepsy: a report of two cases.
McMullin GP, Super M, Clarke MA.
Clin Genet. 1993;44(5):249-53.
The literature relating to encephalocraniocutaneous lipomatosis is reviewed, as well as that relating to the syndromes of naevus unius lateris, the Proteus syndrome and the syndrome of cranial hemihypertrophy, and the clinical features of our two cases are compared with the features of these four syndromes.