Document Detail

Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation.
MedLine Citation:
PMID:  23616197     Owner:  NLM     Status:  MEDLINE    
IMPORTANCE: Epidermolysis bullosa (EB) pruriginosa is a rare variant of dystrophic EB. It may manifest late in life and is characterized by intense pruritus, resulting in a phenotype resembling acquired inflammatory dermatoses. Dermatopathology textbooks include hereditary forms of EB among the "cell-poor" list of subepidermal blistering disorders.
OBSERVATIONS: We report a case of dominant dystrophic EB pruriginosa with late-onset cutaneous manifestations. A biopsy specimen showed subepidermal blistering with prominent inflammatory cells, including numerous eosinophils. Unfamiliarity with the distinctive clinicopathologic features of EB pruriginosa led to an initial erroneous histopathologic diagnosis of an acquired autoimmune blistering disorder. Direct immunofluorescence study results were negative for immune reactants. A strong clinical suspicion of hereditary EB pruriginosa led to mutation analysis of COL7A1, which confirmed a novel, heterozygous nonglycine missense mutation. Subsequently, 2 other family members who had nail dystrophy were also correctly diagnosed as having dominant dystrophic EB, highlighting the clinical spectrum of the disorder and the intrafamilial variability in disease presentation.
CONCLUSIONS AND RELEVANCE: The clinical features of EB pruriginosa are becoming more widely recognized, but dermatologists, dermatopathologists, and histopathologists should be aware that inflammatory infiltrates and late presentation are potential pitfalls in correctly diagnosing this subtype of hereditary EB.
Sivanie Vivehanantha; Richard A Carr; John A McGrath; Saleem M Taibjee; Sharmila Madhogaria; Andrew Ilchyshyn
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  JAMA dermatology     Volume:  149     ISSN:  2168-6084     ISO Abbreviation:  JAMA Dermatol     Publication Date:  2013 Jun 
Date Detail:
Created Date:  2013-06-20     Completed Date:  2013-09-02     Revised Date:  2013-12-13    
Medline Journal Info:
Nlm Unique ID:  101589530     Medline TA:  JAMA Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  727-31     Citation Subset:  AIM; IM    
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MeSH Terms
Collagen Type VII / genetics*
Diagnostic Errors
Epidermolysis Bullosa / diagnosis,  genetics,  pathology*
Fluorescent Antibody Technique, Direct
Inflammation / diagnosis,  pathology*
Reg. No./Substance:
0/COL7A1 protein, human; 0/Collagen Type VII

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