Immunofluorescence mapping (IFM) in inherited epidermolysis bullosa - A study of eighty-six cases from India.
[kindler syndrome]
Epidermolysis bullosa (EB) poses diagnostic challenges in infancy. In India, the diagnosis is largely clinical. There were no facilities to perform IFM until recently and electron microscopy, which requires expertise to interpret, is limited to a few research laboratories.The aim of the study was to describe the pattern of IFM staining in the various forms of EB in Indian patients and to correlate these findings with clinical diagnosis. Method- we conducted a cross-sectional study of IFM findings in EB. Antibodies against type IV collagen, cytokeratin 14, laminin 332 and type VII collagen were used. Clinical correlation was done in all cases and concordance- discordance rates were calculated.Eighty-six patients with a diagnosis of EB were included in the study. There were 29 EB simplex (EBS), 18 junctional EB (JEB) and 15 dystrophic EB (DEB) cases. The remaining 24 cases included rare variants, cases with overlapping clinical features and cases where EB type was not known. On IFM, there were 32 EBS, 15 JEB, 17 DEB and 2 Kindler Syndrome (KS) cases. Two cases were not EB and 18 were inconclusive. IFM could establish the type in 12/15 cases (80%) that had overlapping clinical features. Most of these cases were under one year of age. Overall the concordance was 57 percent and was best seen in EBS cases.This is the first large study of immunofluorescence mapping in the subtypes of EB in Indian patients. The study provides a framework for better understanding of EB in Indian patients and for a better diagnosis and management particularly in the infantile period. This article is protected by copyright. All rights reserved.
