Umbilical Hernia in Patients withBerardinelliseipSyndrome: Is it Really Hernia

Umbilical hernia is often described in several cases of Berardinelli-Seip congenital lipodystrophy (BSCL). The aim of this article is to identify whether BSCL patients have umbilical herniation or protrusion. Cases and methods. We clinically evaluated twelve BSCL patients (eight females) through abdominal palpation sensitized by Valsalva maneuver. None of them had a history of surgical treatment for umbilical hernia repair neither complained of symptoms such as pain, abdominal discomfort, nausea, nor vomiting. We did not find any case of umbilical hernia, but all of them had protrusion of the umbilicus. Conclusion. At least in our patients, umbilical hernia is not part of BSCL and patients truly have protrusion of the umbilicus due to the almost complete absence of subcutaneous fat tissue.