Rare Diseases Symptoms Automatic Extraction

Successful radiation therapy for supratentorial primitive neuroectodermal tumor and epidermolysis bullosa simplex.

[epidermolysis bullosa simplex]

Epidermolysis bullosa simplex (EBS) is a heritable skin disorder characterized by skin fragility and blistering. While its most severe variant, dystrophic epidermolysis bullosa (DEB) is associated with squamous cell carcinoma (SCC), the development of extracutaneous neoplasms in EBS is extremely rare. We report a novel case of supratentorial primitive neuroectodermal tumor (sPNET) in a 7-year male with EBS. Experience of radiation therapy and its challenges in children with EBS has rarely been reported.

Diseases presenting "skin fragility" symptom

  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erythropoietic protoporphyria
  • harlequin ichthyosis
  • junctional epidermolysis bullosa
  • kindler syndrome

This symptom has already been validated