Rare Diseases Symptoms Automatic Extraction

A case of Proteus syndrome with severe spinal canal stenosis, scoliosis, and thoracic deformity associated with tethered cord.

[proteus syndrome]

Proteus syndrome is a rare, sporadic, hamartomatous disorder manifesting with multifocal overgrowth of tissue. The features seem to develop most often during childhood. Vertebral overgrowth with severe spinal canal stenosis is unusual, although scoliosis with abnormal vertebral bodies is one of the typical features of Proteus syndrome. We report a case of Proteus syndrome with severe spinal canal stenosis, scoliosis, cervical kyphosis, and thoracic deformity with airway obstruction because of asymmetrical overgrowth of vertebrae and ribs associated with a tethered cord, lipomas, strawberry hemangioma, flat nasal bridge, and bilateral hypoplasty of the first metatarsal bones with hyperplasty of soft tissue.

Diseases presenting "lipomas" symptom

  • cowden syndrome
  • dedifferentiated liposarcoma
  • focal myositis
  • liposarcoma
  • pleomorphic liposarcoma
  • proteus syndrome
  • well-differentiated liposarcoma

This symptom has already been validated