Rare Diseases Symptoms Automatic Extraction

Syndromes with focal overgrowth in infancy: Diagnostic approach and surgical treatment.

[proteus syndrome]

Abstract Syndromes with focal overgrowth are sporadic diseases and comprise Proteus syndrome and congenital lipomatous overgrowth, vascular malformations, and epidermal naevi (CLOVE) syndrome, and isolated hemihyperplasia. We describe 3 children classified according to standard criteria with dysregulated growth of various tissues that was excised, together with excess toes, and tumours. Correct classification facilitates diagnosis and operations. Interdisciplinary treatment and follow-up are recommended to prevent disfiguration.

Diseases presenting "naevi" symptom

  • harlequin ichthyosis
  • proteus syndrome

This symptom has already been validated