Aplasia cutis congenita (ACC) is a rare skin defect usually localized to the vertex. It has been reported in association with other disorders involving mainly ectodermal and mesodermal structures. We discovered the association of ACC and intestinal lymphangiectasia (IL) in a patient and probably in his brother. At birth, the propositus had ACC of the vertex and edema, which persisted for six months. At 3 years of age he presented with generalized edema and was found to have hypoproteinemia and lymphopenia. Radioisotope studies and a small-intestinal biopsy confirmed the diagnosis of IL. On a fat-free, medium-chain triglyceride-containing diet, clinical and laboratory findings returned to normal. A sibling born one year after his brother's presentation had nonpitting limb edema and extensive ACC of the vertex with an underlying bony defect. He died in shock at 2 months of age, after sudden profuse bleeding from the sagittal sinus. The association between ACC and IL is another example of combined anomalies with both ectodermal and mesodermal involvement that is most probably not coincidental.