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Epitheliogenesis Imperfecta (EI) is a mechanobullous disease that occurs in newborn American Saddlebred and Belgian Draft foals. Necropsy evaluations of two American Saddlebred foals revealed broad skin lesions, dental abnormalities and oral mucosa lesions. Construction of a partial pedigree showing occurrences of EI in American Saddlebred horses was consistent with a recessive pattern of inheritance. An allelic frequency of 0.04 was estimated for the EI gene. The pathological signs of EI were similar to a disease in humans known as Herlitz Junctional Epidermolysis Bullosa (HJEB). HJEB is caused by a defect in one of the three subunits of the laminin 5 protein (LAM 3, LAM 3 and LAM 2), which leads to a separation of the epidermis from the dermis. Transmission electron microscopy revealed a separation within the lamina lucida at the sites of epidermal/dermal splits in the skin of EI affected foals. This indicated that a defect in the laminin 5 protein was responsible for EI. Linkage disequilibrium (LD) between microsatellite markers and the EI disease locus was tested for in the American Saddlebred and Belgian Draft breeds. Genotyping of microsatellite alleles was used to determine fit to Hardy-Weinberg equilibrium for control and EI populations for both breeds using Chi square analysis. Two microsatellite loci (ASB14 and AHT3) were not in Hardy-Weinberg equilibrium in EI affected American Saddlebred horses. This suggested that the EI disease locus was located on ECA 8, the putative location of LAM 3. No evidence of LD between any of the tested microsatellite loci and the EI locus was observed in the Belgian Draft samples. A cDNA library was built from Thoroughbred horse skin to serve as a resource for sequencing equine skin gene transcripts. 313 ESTs were sequenced, of which 207 were putatively identified (66%) by database search. Examination of the pathology and ultrastructure of EI affected foals and comparison with HJEB indicated that laminin 5 was the responsible defective protein. The LD analysis suggested that LAM 3 was the EI disease locus in American Saddlebred horses.

Syfte: Är att ta reda på om man med hjälp av immunhistokemi (IHC) med infärgning avantikroppar mot laminin-5 och C3d kan särskilja mellan slemhinnepemfigoid (MMP) ochorala lichenoida reaktioner (OLR) med epitelsläpp. Vidare undersöks graden inflammation för MMP och OLR för att fastställa om det går att se ett samband mellan grad av inflammation och antikroppsinfärgning.Material och metod: En pilotstudie utfördes på 10 prover med diagnosen MMP respektive 9 prover med OLR, som hämtades från Malmö universitets biobank. Proverna genomgickrutinfärgning respektive antikroppsinfärgning mot laminin-5 och C3d. Granskning av prover skedde i digitalmikroskop. Efteråt delades proverna in i grupper efter var infärgningen sågs. Sammanställning gjordes i Excel med stapeldiagram.Resultat: Ingen tendens till särskiljning ses mellan MMP och OLR avseende infärgning mot laminin-5 och C3d. Positiva utslag för infärgning mot Laminin-5 ses enhetligt på enbart en sida om epitelsläppet hos både snitten för MMP och OLR. Vidare kan det inte ses att snitt med diagnosen OLR har slumpartad infärgning mot laminin-5 på båda sidor om släppet. Det finns en tendens till att MMP-snitt får mer positiva utslag för infärgning mot C3d än för OLR snitt. Graden inflammation var högre i OLR snitt än för MMP snitt.Slutsats: Enligt studien går det inte att, med IHC, med infärgning av antikroppar mot laminin5 och C3d, kunna särskilja MMP och OLR med epitelsläpp. Större urval krävs för definitiva slutsatser. Vidare studier behövs för att utreda om det går att använda IHC för att särskilja MMP och OLR.Nyckelord: C3d, immunhistokemi (IHC), laminin-5, orala lichenoida reaktioner (OLR),slemhinnepemfigoid (MMP) / Aim: To investigate if it is possible to differentiate between the diagnoses mucous membrane pemphigoid (MMP) and oral lichenoid reactions (OLR) with epithelial detachment using immunohistochemistry (IHC) with antibodies against laminin-5 and C3d. Furthermore, the extent of inflammation was examined for MMP and OLR to determine if a correlation between the inflammation and immunostaining is evident.Material and method: A pilot study is conducted using 10 samples diagnosed with MMP and 9 samples diagnosed with OLR, collected from Malmö University’s biobank. H&E staining and immunostaining against laminin-5 and C3d is performed on the samples. Analysis is conducted using a microscope. Samples are then divided into groups depending on the staining. Excel is used to compile the results.Result: No differentiating tendencies are observed between MMP and OLR regardingimmunostaining against laminin-5 and C3d. Immunostaining against laminin-5 is positive for MMP and OLR and is seen continuously on only one side of the epithelial detachment.Furthermore, staining with laminin-5 is not seen as random staining on both sides of theepithelial detachment. Samples with MMP have a higher tendency to stain against C3dcompared to OLR samples. Inflammation is higher in OLR samples than those for MMP.Conclusion: According to this study it is not possible to differentiate between the diagnoses MMP and OLR with epithelial detachment using immunostaining against laminin-5 and C3d. A larger sample size is needed for a definitive conclusion. Additionally, further studies are required to conclude if IHC can be used to differentiate between MMP and OLR.Keywords: C3d, immunohistochemistry (IHC), laminin-5, mucous membrane pemphigoid(MMP), oral lichenoid reactions (OLR)