Proteus syndrome versus Bannayan-Zonana syndrome: a problem in differential diagnosis.

摘要: The Proteus syndrome (PS) and the Bannayan-Zonana (BZS) both have multiple hamartomata as prominent features. Hemihypertrophy, macrodactyly, exostoses, skin lesions, scoliosis, sporadic occurrence are seen in PS, whereas patients with BZS macrocephaly related craniofacial findings. has been observed families an autosomal dominant trait. Although two syndromes can be distinguished most patients, there features common to that may pose a diagnostic dilemma isolated case. We report case of 3-year-old girl macrocephaly, superficial intra-abdominal who illustrates problem differentiating recently reported patient other published cases PS BZS. Patients general, show more extensive systemic involvement, including skeletal cutaneous manifestations. Macrocephaly, all BZS, is also found 14% PS. Overlap among which include suggests they might etiologically or pathogenetically related. present usefulness imaging techniques diagnosis mixed mesodermal hamartomata.