两名同父异母姐妹患黏膜类天疱疮。抗β4整合素亚基自身抗体和HLA - DQβ1*0301的潜在作用
Mucous membranepemphigoid in two half-sisters. The potential roles of autoantibodies to β4 integrin subunits and HLA-DQβ1*0301.
作者信息
Rabelo Diogo Fabris, Nguyen Tegan, Caufield Brooke Ann, Ahmed Abdul Razzaque
机构信息
The Center for Blistering Diseases, Boston, MA, USA;
Naval Medical Center, Portsmouth, Virginia, USA.
出版信息
J Dermatol Case Rep. 2014 Mar 31;8(1):9-12. doi: 10.3315/jdcr.2014.1162.
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.
背景
黏膜类天疱疮（MMP）是一种上皮下自身免疫性黏膜皮肤疾病。它最常累及口腔黏膜，其次是眼和鼻黏膜、鼻咽部、肛门生殖器、皮肤、喉和食管黏膜。
主要观察结果
两名同父异母的姐妹在大致相同的年龄患上了黏膜类天疱疮。姐姐主要表现为黏膜疾病，而妹妹的皮肤病变更为明显。组织病理学显示上皮下水疱形成，直接免疫荧光显示两名姐妹病变周围组织的基底膜区均有IgG和C3沉积。两名患者血清中均存在抗人β4整合素抗体，且与疾病活动相关。两名姐妹均携带相同的HLADQβ1* 0301等位基因。
结论
这是首例同父异母姐妹患黏膜类天疱疮的病例。也许是黏膜类天疱疮发病率较低，导致该病家族性病例的报道较少。
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