A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosis.

ABSTRACT: CLOVES syndrome is characterized by congenital lipomatous overgrowth, vascular malformation, epidermal nevi, and scoliosis/spinal malformation. It is caused by somatic mosaicism of gain-of-function variants of PIK3CA. Here, we describe a novel case of a 5-year-old Japanese girl with CLOVES and concurrent pancreatic steatosis. She had a recurrent somatic mutation in PIK3CA (NM_006218.3: c.1357G>A, p.Glu453Lys), elevated HbA1c levels, and pancreatic steatosis. This case indicates that pancreatic screening is critical for PIK3CA-related disorders.

SUBMITTER: Hanafusa H 

PROVIDER: S-EPMC6591404 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature