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Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation.
JAMA Dermatol. 2013 Jun; 149(6):727-31.JD

Abstract

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.

Authors+Show Affiliations

Department of Dermatology, Worcestershire Royal Hospital, Charles Hastings Way, Worcester WR5 1DD, England. sivanie@doctors.org.ukNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

23616197

Citation

Vivehanantha, Sivanie, et al. "Epidermolysis Bullosa Pruriginosa: a Case With Prominent Histopathologic Inflammation." JAMA Dermatology, vol. 149, no. 6, 2013, pp. 727-31.
Vivehanantha S, Carr RA, McGrath JA, et al. Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation. JAMA Dermatol. 2013;149(6):727-31.
Vivehanantha, S., Carr, R. A., McGrath, J. A., Taibjee, S. M., Madhogaria, S., & Ilchyshyn, A. (2013). Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation. JAMA Dermatology, 149(6), 727-31. https://doi.org/10.1001/jamadermatol.2013.155
Vivehanantha S, et al. Epidermolysis Bullosa Pruriginosa: a Case With Prominent Histopathologic Inflammation. JAMA Dermatol. 2013;149(6):727-31. PubMed PMID: 23616197.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation. AU - Vivehanantha,Sivanie, AU - Carr,Richard A, AU - McGrath,John A, AU - Taibjee,Saleem M, AU - Madhogaria,Sharmila, AU - Ilchyshyn,Andrew, PY - 2013/4/26/entrez PY - 2013/4/26/pubmed PY - 2013/9/3/medline SP - 727 EP - 31 JF - JAMA dermatology JO - JAMA Dermatol VL - 149 IS - 6 N2 - 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. SN - 2168-6084 UR - https://wwww.unboundmedicine.com/medline/citation/23616197/Epidermolysis_bullosa_pruriginosa:_a_case_with_prominent_histopathologic_inflammation_ L2 - https://jamanetwork.com/journals/jamadermatology/fullarticle/10.1001/jamadermatol.2013.155 DB - PRIME DP - Unbound Medicine ER -