Visual Diagnosis: Soft Tissue Swellings and Congenital Great Toe Malformations in a 12-year-old Girl.

1. Alison Payson, MD* 2. Paula Prieto, MD* 3. Gabriel Salinas Cisneros, MD* 4. Beatriz Franyie Ladd, MD* 1. *Department of Pediatrics, Nicklaus Children’s Hospital, Miami, FL A previously healthy 12-year-old girl presents to the emergency department with a 1-week history of painful swelling of her right upper back. The swelling started as a tennis-ball-sized mass, which progressively enlarged over 1 week and is currently causing discomfort during movement of her neck and right arm. She denies any numbness, tingling, or decreased range of motion. She denies any trauma but after further questioning admits to recently wearing a heavy purse on her right shoulder. She denies any fevers, rashes, recent viral illnesses, or changes in skin color or temperature of the area. Her mother has given her nonsteroidal anti-inflammatory drugs (NSAIDs) and applied warm compresses to the area with no improvement. Her medical history is remarkable for a neurosurgical intervention at 5 months old for a subcutaneous scalp mass that was removed and diagnosed as a cranial myofibroma, with no further recurrences or sequelae. She also had a significantly swollen right quadriceps muscle after receiving a routine 6-month vaccination in that location. At 10 years old, her mother self-referred the patient to a pediatric orthopedic surgeon for evaluation of bilateral shortened big toes. She was referred to genetics, at which time the results of karyotype, microarray, and fragile X DNA testing were negative. Physical examination reveals an asymmetrical swelling of her right posterior hemithorax with loss of landmarks of the right scapula. The mass is firm and mildly tender to …