Document Detail

Congenital cerebellar malignant rhabdoid tumor in an infant with junctional epidermolysis bullosa.
MedLine Citation:
PMID:  18001159     Owner:  NLM     Status:  MEDLINE    
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.
Henry F Krous; Amy E Chadwick; Elisabeth A Haas; Eric Breisch; Homeyra Masoumi
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society     Volume:  10     ISSN:  1093-5266     ISO Abbreviation:  Pediatr. Dev. Pathol.     Publication Date:    2007 Nov-Dec
Date Detail:
Created Date:  2007-11-16     Completed Date:  2007-12-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9809673     Medline TA:  Pediatr Dev Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  481-6     Citation Subset:  IM    
Department of Pathology, Rady Children's Hospital and Health Center, San Diego, CA, USA.
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MeSH Terms
Cerebellar Neoplasms / complications,  congenital*,  pathology*
Epidermolysis Bullosa, Junctional / complications,  pathology*
Fatal Outcome
Pseudomonas Infections / complications,  diagnosis
Pseudomonas aeruginosa / isolation & purification
Rhabdoid Tumor / complications,  congenital*,  pathology*
Sepsis / diagnosis,  etiology

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