HLA AND EPIDERMOLYSIS-BULLOSA - ASSOCIATION BETWEEN THE HLA COMPLEX AND RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA

Background and Design. - Epidermolysis bullosa refers to a group of genetic diseases characterized by marked skin fragility and blister formation following minor mechanical trauma. The patients with recessive dystrophic epidermolysis bullosa (RDEB) are the most severely affected with marked internal and external blistering, scarring, and death at an early age, secondary to malnutrition, septicemia, and/or metastatic squamous cell carcinoma. An association between RDEB and HLA antigens was explored in 28 patients with RDEB and their family members. Results. - Our data demonstrate that susceptibility to develop RDEB may be associated with the HLA complex. The gene frequencies of DR4 and DQw3 were much higher in the patients than expected. These increases were likely due to statistically significant excess of DR4 and DQw3 homozygotes in the patients. In addition, the observed frequencies of two HLA haplotypes: Bw62, DR4, DQw3 and Bw60, DR4, DQw3 were significantly higher than expected. Conclusion. - If these observations are confirmed in the larger series of patients, the association between RDEB and HLA complex may have clinical utility in genetic counseling of siblings of child-bearing age who are at risk of being carriers of RDEB.