Hamartoma syndromes, exome sequencing, and a protean puzzle.

摘要

Gross malformations have been well known for hamartoma. In 1934, the concept entered the centuries, even millennia. However, it was not field of developmental pathology generally in until 1904 that Albrecht coined the concept of reference to tissue malformations. Hamartomata are localized overgrowths of a single tissue or combination of tissues, indigenous to the affected body part or organ, usually growing at the same rate as the normal components and causing little pain or functional impairment. They are a key finding in the Proteus syndrome, the cause of which has now been identified by Lindhurst et al. in this issue of the Journal.