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
Validation

Diseases presenting "sepsis" symptom

acute rheumatic fever

carcinoma of the gallbladder

congenital diaphragmatic hernia

cushing syndrome

cystinuria

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

focal myositis

harlequin ichthyosis

heparin-induced thrombocytopenia

hirschsprung disease

homocystinuria without methylmalonic aciduria

inclusion body myositis

junctional epidermolysis bullosa

kindler syndrome

lamellar ichthyosis

locked-in syndrome

malignant atrophic papulosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

primary effusion lymphoma

primary hyperoxaluria type 1

pyomyositis

scrub typhus

systemic capillary leak syndrome

typhoid

This symptom has already been validated