Mucous membranepemphigoid in two half-sisters. The potential roles of autoantibodies to β4 integrin subunits and HLA-DQβ1*0301

Abstract

Background: Mucous membrane pemphigoid (MMP) is a subepithelial autoimmune mucocutaneous disease. It most frequently affects the oral mucosa, followed by ocular and nasal mucosa, nasopharyngeal, anogenital, skin, laryngeal and esophageal mucosa.

Main observation: Two half-sisters developed mucous membrane pemphigoid at approximately the same age. The older sister presented with primarily mucosal disease, while the younger had a more cutaneous disease. The histopathology demonstrated a subepithelial blister and direct immunofluorescence showed deposition of IgG and C3 at the basement membrane zone of perilesional tissues in both sisters. Antibodies to human β4 integrin were present in the sera of both patients and correlated with disease activity. Both sisters carried the same HLADQβ1* 0301 allele.

Conclusions: This is the first case of mucous membrane pemphigoid occurring in two half-sisters. Perhaps, it is the low incidence of mucous membrane pemphigoid that may account for the lack of reports on familial cases of the disease.

Keywords: IVIG; basement membrane zone; dapsone; dysphagia; family; pemphigoid; tacrolimus.

Figure 1

MMP in older sister. Photographs demonstrate MMP lesions as A) desquamation of the gum, B) early conjunctival involvement and C) erosion of the labia.

Figure 2

MMP in younger sister. Photographs demonstrate MMP lesions as A) a flaccid blister on forehead with crust formation as it heals, B) ruptured blister with thick crust formation above the medial malleolus of the right foot, and C) erosive lesions and denuded epithelium of the hard palate.