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Cirugía Plástica Ibero-Latinoamericana

On-line version ISSN 1989-2055Print version ISSN 0376-7892

Abstract

PALAFOX, Damián et al. Determination of HLA in patients with Parry Romberg Syndrome treated at the Plastic and Reconstructive Surgery Service General Hospital "Dr. Manuel Gea González. Cir. plást. iberolatinoam. [online]. 2016, vol.42, n.2, pp.115-120. ISSN 1989-2055.

Background and Objectives. Parry Romberg syndrome is a complex and multifactorial disease that affects skin, particularly the face development. The differential diagnosis includes generalized scleroderma, morphea and CREST syndrome. These skin disorders are associated with allelic variants (polymorphic) of the HLA system. Thus, scleroderma is associated with HLA DR*11, CREST syndrome with HLA-DR*03, HLA-DR*01, while the Mexican morphea seems not to be associated. The purpose of this paper is to explore the possibility of association between Parry Romberg syndrome and some alleles of HLA system, in order to understand the physiopathogenic mechanism and the role of ethnicity in the prevalence and incidence of this disease in Mexican Mestizo individuals. Methods. We included 24 patients with Parry Romberg from the outpatient clinic of Plastic Surgery, Hospital "Dr. Manuel Gea Gonzalez", Mexico City. The diagnosis was based on SPR clinical study, imaging and histopathology of lesions. The haplotypes of HLA involving HLA loci A, B, DR, DQ antigens were typified in 24 patients (48 haplotype) and the frequencies were established. The results were compared with frequencies in a group of 99 mexican mestizo controls without history of autoimmune or metabolic disease. The differences in gene frequencies were analyzed using nonparametric statistics that included Chi square test and Fisher's exact, besides determining OR (odds ratio) and confidence intervals of 95%. Results. We hereby report that patients with Parry Romberg showed significant increase in HLA-DRB1*16 (g.f: 14% vs 1% in SPR normal p=0.002, OR: 6.5, IC 95%: 1.9-21.7) and diminished HLA-DR*07 (2% vs. 11% in SPR normal. p = 0.03 OR: 0.17, IC 95% 0.02-1.2). Furthermore, it was found that the HLA-DR*16 is part of haplotypes: HLA-DRB1*16 / DQB1*0301, in combination with HLA-B*39, HLA-B*15 alleles and HLA-B*35, in contrast with normal population HLA-DQB1*0502 allele. Conclusions. These data suggest that the haplotype HLA-DRB1*16 / HLADQB1* 0301 confers risk for PRS. Since the indigenous origin of this haplotype, it suggests that mexican mestizo suffering PRS is influenced by the genetic background of Native American and since the risk alleles (HLA-DR*11, HLA-DR*01 and HLA-DR*03) for diseases related to PRS were diminished in this study, it suggests that the PRS is a stereotyped and single entity.

Keywords : Parry Romberg syndrome; Progressive hemifacial atrophy; Histocompatibility.

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