Document Detail

Herlitz junctional epidermolysis bullosa: a case report and review of current diagnostic methods.
MedLine Citation:
PMID:  9263316     Owner:  NLM     Status:  MEDLINE    
We report an infant with Herlitz junctional epidermolysis bullosa (JEB) presenting at birth with erosions on the scalp, thigh and periumbilical area in addition to nail abnormalities. Ultrastructural studies demonstrated a split through the lamina lucida with poorly formed hemidesmosomes and no clearly defined subbasal dense plates. Indirect immunofluorescence staining with antibodies GB3 (antilaminin 5) and 19-DEJ-1 (antiuncein) was totally absent. These findings, in combination with the clinical picture, favor a diagnosis of Herlitz JEB. Immunohistochemistry findings greatly facilitated an accurate diagnosis, which is essential in view of the poor prognosis for patients with this form of junctional epidermolysis bullosa.
T Basarab; M G Dunnill; R A Eady; R Russell-Jones
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric dermatology     Volume:  14     ISSN:  0736-8046     ISO Abbreviation:  Pediatr Dermatol     Publication Date:    1997 Jul-Aug
Date Detail:
Created Date:  1997-09-24     Completed Date:  1997-09-24     Revised Date:  2009-03-03    
Medline Journal Info:
Nlm Unique ID:  8406799     Medline TA:  Pediatr Dermatol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  307-11     Citation Subset:  IM    
Department of Dermatology, Ealing Hospital NHS Trust, Middlesex, England.
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MeSH Terms
Epidermolysis Bullosa, Junctional / diagnosis*,  pathology
Infant, Newborn
Microscopy, Electron
Skin / pathology

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