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Familial pemphigus vulgaris in mother and daughter
Author(s) -
Starzycki MD Zbigniew,
Chorzelski MD Tadeusz P.,
Jablonska MD Stefania
Publication year - 1998
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1046/j.1365-4362.1998.00325.x
Subject(s) - pemphigus vulgaris , daughter , medicine , prednisone , disease , human leukocyte antigen , azathioprine , immunology , autoimmune disease , pemphigus , haplotype , family history , dermatology , allele , antibody , antigen , pathology , genetics , gene , biology , evolutionary biology
Background Pemphigus vulgaris is an autoimmune disease in which genetics appears to be of basic importance. Although association with certain human leukocyte antigen (HLA) alleles has been found in some ethnic groups and individuals, no true disease susceptibility genes have been established, and familial cases are very unusual. Methods We report a Polish family with pemphigus vulgaris in the mother and daughter. The diagnosis was confirmed by cytologic, histologic, and immunofluorescence studies. Results The course was severe and the disease long‐lasting in the mother, probably due to treatment with small doses of corticosteroids without immunosuppressive drugs. In the daughter, treated with larger doses of corticosteroids and azathioprine, the lesions regressed within 4 months, after which maintenance therapy was instituted with 10 mg of prednisone daily. The HLA studies performed in the daughter and her three children after the mother had died showed identical haplotypes in both the patient and the healthy children. The patient has given birth to a healthy child while still having a high titer of intercellular (IC) antibodies. Conclusions The familial occurrence of pemphigus in first‐degree relatives is suggestive of inherited susceptibility to the disease, transmitted as a dominant trait. The identical haplotypes in the healthy children of the patient favor the role of other, unknown factors required for the development of the disease in predisposed individuals.