title: 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.
  
  
  METHODS
  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.
authors.affiliation: The Center for Blistering Diseases, Boston, MA, USA;
authors.forename: Diogo Fabris
authors.initials: DF
authors.lastname: Rabelo
authors.affiliation: The Center for Blistering Diseases, Boston, MA, USA;
authors.forename: Tegan
authors.initials: T
authors.lastname: Nguyen
authors.affiliation: Naval Medical Center, Portsmouth, Virginia, USA.
authors.forename: Brooke Ann
authors.initials: BA
authors.lastname: Caufield
authors.affiliation: The Center for Blistering Diseases, Boston, MA, USA;
authors.forename: Abdul Razzaque
authors.initials: AR
authors.lastname: Ahmed
keywords: IVIG; basement membrane zone; dapsone; dysphagia; family; pemphigoid; tacrolimus
references.citation: J Immunol. 2000 Sep 1;165(5):2824-9
references.pmid: 10946315
references.citation: Proc Natl Acad Sci U S A. 1994 Aug 2;91(16):7747-51
references.pmid: 8052655
references.citation: Arch Dermatol. 2003 Aug;139(8):1051-9
references.pmid: 12925395
references.citation: Am J Clin Dermatol. 2009;10(6):383-96
references.pmid: 19824739
references.citation: Lancet. 2013 Jan 26;381(9863):320-32
references.pmid: 23237497
references.citation: Int Immunopharmacol. 2006 Apr;6(4):557-78
references.pmid: 16504919
references.citation: Arch Dermatol. 2002 Mar;138(3):370-9
references.pmid: 11902988
references.citation: Proc Natl Acad Sci U S A. 1991 Dec 15;88(24):11579-82
references.pmid: 1763074
references.citation: Clin Immunol. 2001 Oct;101(1):100-5
references.pmid: 11580232
references.citation: Eur J Dermatol. 2007 May-Jun;17(3):191-200
references.pmid: 17478379
references.citation: Clin Immunol. 2004 Sep;112(3):268-72
references.pmid: 15308120
references.citation: Clin Immunol. 2002 Jan;102(1):59-67
references.pmid: 11781068
references.citation: Br J Dermatol. 2001 Dec;145(6):998-1004
references.pmid: 11899157
references.citation: Arch Ophthalmol. 1995 Feb;113(2):202-7
references.pmid: 7864752
references.citation: Curr Eye Res. 2000 Aug;21(2):646-54
references.pmid: 11148601
references.citation: Invest Ophthalmol Vis Sci. 2001 Feb;42(2):379-85
references.pmid: 11157870
references.citation: J Invest Dermatol. 1996 Jul;107(1):136-9
references.pmid: 8752852
references.citation: Dent Clin North Am. 2013 Oct;57(4):611-30
references.pmid: 24034069
references.citation: J Invest Dermatol. 2006 Dec;126(12):2631-6
references.pmid: 16810295