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 HLA-DQβ1*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. (J Dermatol Case Rep. 2014; 8(1): 9-12)

Mucous membrane pemphigoid: A wide-ranging assessment of various cases and corresponding methods of diagnosis and treatment

“…Both sisters shared the HLA-DQβ1*0301 allele in common, therefore there are theories that this allele is linked to MMP. This recurred in a set of twins who also both carried this allele, however, in this case, only one sister developed a diagnosis for a proven ocular pemphigoid, while the other sister has not yet been reported to develop any form of MMP [24]. With these provided facts and incidences, there should be further research done around this allele to check for a direct correlation, especially in those who share the same DNA.…”

Role of Human Leukocyte Antigen Class II in Antibody-Mediated Skin Disorders

“…Autoantibodies targeting different antigens of the BMZ are detected in MMP: BP180, laminin 332, and integrin beta4 subunit in ocular MMP. The HLA class II allele most studied in MMP is DQB1*0301, the association of which has been highlighted in Caucasian populations and in subsets of patients with ocular cicatricial pemphigoid [51][52][53]. Additional specific HLA class II alleles in MMP are DRB1*04 and DRB1*11 [54].…”