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

Abstract

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.

• Authors: Henry F Krous, Amy E Chadwick, Elisabeth A Haas, Eric Breisch, Homeyra Masoumi
• Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society (Pediatr Dev Pathol) Vol. 10 Issue 6 Pg. 481-6 ( 2007) ISSN: 1093-5266 [Print] United States
• PMID: 18001159 (Publication Type: Case Reports, Journal Article)

Topics

• Cerebellar Neoplasms (complications, congenital, pathology)
• Epidermolysis Bullosa, Junctional (complications, pathology)
• Fatal Outcome
• Humans
• Infant
• Male
• Pseudomonas Infections (complications, diagnosis)
• Pseudomonas aeruginosa (isolation & purification)
• Rhabdoid Tumor (complications, congenital, pathology)
• Sepsis (diagnosis, etiology)