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.
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.
Authors: S Kumari; K C Bhol; R K Simmons; M S Razzaque; E Letko; C S Foster; A Razzaque Ahmed; A R Ahmed Journal: Invest Ophthalmol Vis Sci Date: 2001-02 Impact factor: 4.799
Authors: Lawrence S Chan; A Razzaque Ahmed; Grant J Anhalt; Wolfgang Bernauer; Kevin D Cooper; Mark J Elder; Jo-David Fine; C Stephen Foster; Reza Ghohestani; Takashi Hashimoto; Thanh Hoang-Xuan; Gudula Kirtschig; Neil J Korman; Susan Lightman; Francina Lozada-Nur; M Peter Marinkovich; Bartly J Mondino; Catherine Prost-Squarcioni; Roy S Rogers; Jane F Setterfield; Dennis P West; Fenella Wojnarowska; David T Woodley; Kim B Yancey; Detlef Zillikens; John J Zone Journal: Arch Dermatol Date: 2002-03
Authors: A R Ahmed; S Foster; M Zaltas; G Notani; Z Awdeh; C A Alper; E J Yunis Journal: Proc Natl Acad Sci U S A Date: 1991-12-15 Impact factor: 11.205