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Pancreatic Cystic Dysplasia (Dysgenesis) Presenting as a Surgical Pathology Specimen in a Patient with Multiple Malformations and Familial Ear Pits

A peculiar 6 x 5 x 3 cm, multilobed, septated, cystic tumor presented in the tail of the pancreas in a 5-month-old infant with left ear pit, bilateral cleft palate, brachydactyly type B, and familial ear pits. This combination was not found previously reported. The cysts were lined by attenuated epithelium and PAS-positive, mucus-containing cells. These were keratin 8-, 18-, and 19-positive and CA 19.9-negative. Ductuloinsular complexes were present in the adjacent pancreatic tissue. Pancreatic cystic dysplasia (dysgenesis) may associate with several malformation syndromes. A similar lesion may present isolated as a tumor in the first year of life and has been reported under a variety of names (hamartoma, cystadenoma, and cyst). The lesion does not fit with the criteria of cystadenomas as seen in adults.