Oculoectodermal syndrome is a rare disease characterized by the association of
aplasia cutis congenita, epibulbar dermoids, and other abnormalities. This
report describes the twentieth case of the disease. We report a 4-year-old
female child who presented with the classical features of the syndrome: aplasia
cutis congenita and epibulbar dermoids. Our case expands the clinical spectrum
of the disease to include: diffuse hyperpigmentation (some following the
Blaschko´s lines); hypopigmented skin areas on the trunk; arachnoid cyst on the
right fronto-parietal border; rounded left side of the hippocampus; and dermoid
cyst underlying the bulb-medullary transition. Our patient also reported
infantile hemangioma on the right wrist and verrucous hemangioma on the left
leg, the latter not previously described in the literature.
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