Rare Diseases Symptoms Automatic Extraction

Congenital cerebellar malignant rhabdoid tumor in an infant with junctional epidermolysis bullosa.

[junctional epidermolysis bullosa]

Epidermolysis bullosa (EB), a hereditary blistering condition of the skin, is divided into simplex, hemidesmosomal, junctional, and dystrophic types. It may be complicated by the development of squamous cell carcinoma of the skin, but other neoplasms, especially those separate from involved skin, are distinctly rare. We report a male infant with junctional EB who died of Pseudomonas sepsis and was found at autopsy to have a clinically unrecognized cerebellar malignant rhabdoid tumor (MRT). This is the first reported case of an infant with EB and a coincident extracutaneous neoplasm. It is also the first known case of EB associated with a pathologically confirmed malignant brain tumor. Cytogenetic results from the infant and his tumor and both of his parents suggest the infant's EB and MRT were not genetically linked.

Diseases presenting "neoplasm" symptom

  • adrenal incidentaloma
  • alexander disease
  • aromatase deficiency
  • carcinoma of the gallbladder
  • cholangiocarcinoma
  • cowden syndrome
  • cushing syndrome
  • cutaneous mastocytosis
  • dedifferentiated liposarcoma
  • dentin dysplasia
  • erdheim-chester disease
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • familial hypocalciuric hypercalcemia
  • focal myositis
  • hodgkin lymphoma, classical
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • liposarcoma
  • lymphangioleiomyomatosis
  • pleomorphic liposarcoma
  • primary effusion lymphoma
  • proteus syndrome
  • pyomyositis
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • werner syndrome
  • wolf-hirschhorn syndrome

This symptom has already been validated