Vernarbendes Pemphigoid mit Autoantikörpern gegen Laminin-5 (Epiligrin) bei einer Patientin mit metastasierendem Endometriumkarzinom

Abstract

A 71-year-old female patient presented with erosions of the oral, genital and ocular mucosa, but without skin lesions. One year prior to the onset of lesions, a metastatic adenocarcinoma of the endometrium had been diagnosed. In perilesional skin, direct immunofluorescence showed linear deposits of C3 and IgG along the basement membrane zone. Indirect immunofluorescence demonstrated anti-basement membrane zone antibodies which bound exclusively to the dermal side of 1M NaCl-split skin. In immunoprecipitation studies, the autoantibodies bound a set of proteins characteristic of epiligrin/laminin-5, and they specifically immunoblotted the alpha-subunit of this protein. These results confirmed our presumed diagnosis of anti-epiligrin cicatricial pemphigoid. Combined treatment with methylprednisolone and dapsone resulted in prompt remission, despite progression of her malignancy. So far, only eight patients with anti-epiligrin cicatricial pemphigoid have been reported worldwide. Our patient represents the first case from Austria and is clinically and immunopathologically similar to previously reported cases.

Paraneoplastic cicatricial pemphigoid

“…A potential association with underlying malignancy is beginning to emerge 1 –4 . Antiepiligrin CP has been reported in association with large cell carcinoma of the bronchus, 1 adenocarcinoma of the lung in a patient with HIV, 2 endometrial carcinoma 3 and gastric carcinoma 4 . However, none of these cases has clearly fulfilled the criteria suggested by Curth for a paraneoplastic disorder, namely, that the dermatosis and neoplasia follow a parallel course 19 .…”

“…Antiepiligrin cicatricial pemphigoid (CP) is a rare subgroup of CP comprising ≈ 5% patients in whom blisters and erosions involve both cutaneous and mucosal sites. There have been four previously published cases of antiepiligrin CP in association with malignancy 1 –4 . We discuss the pathogenesis of antiepiligrin CP and the developing association with malignancy.…”

Antiepiligrin Cicatricial Pemphigoid with Autoantibodies to the Beta Subunit of Laminin 5 and Associated with Severe Laryngeal Involvement Necessitating Tracheostomy

“…Some patients have antibodies to laminin β3, and others show reactivity to the α3- and γ2-subunits [8, 9, 10]or to the β3- and γ2-subunits [11]. In addition, an association between antiepiligrin CP and neoplasm has recently been reported in patients with gastric carcinoma [12, 13], lung carcinoma [14]and endometrial carcinoma [15]. Our patient’s serum was reactive to the laminin β3-subunit on immunoblotting and there was no evidence of associated neoplasm.…”

Antiepiligrin cicatricial pemphigoid represents an autoimmune response to subunits present in laminin 5 (α3β3γ2)

“…Using this technique in 1992, our laboratory identified a group of patients with one form of cicatricial pemphigoid (CP) who have IgG autoantibodies directed against a set of disulphide-linked polypeptides in HK extracts. 1,2,4,[6][7][8][9][10][11][12][13][14][15][16][17] All patients in our series (21 patients to date) have had mucosal involvement and clinical findings indistinguishable from those seen in patients with other forms of CP. Because this autoantigen had the same tissue distribution and immunoreactivity as that of epiligrin, this form of disease was designated antiepiligrin CP.…”

“…[3][4][5] Since its original description, several patients with this form of CP have been described. 1,2,4,[6][7][8][9][10][11][12][13][14][15][16][17] All patients in our series (21 patients to date) have had mucosal involvement and clinical findings indistinguishable from those seen in patients with other forms of CP. While these patients probably comprise a minority of individuals with CP, it is plausible that some such patients have gone unrecognized due to a lack (or very low titre) of disease-specific 'marker' anti-BM autoantibodies in their circulation.…”