Background and Aim: Sarcoidosis is a non-caseous granulomatous disease that can involve several organs such as lung, kidney, liver, heart and skin. In systemic sarcoidosis, skin lesions occur in 20-35% of patients. Cutaneous sarcoidosis with no systemic involvement was found in about 25% of patients. Mutation within Butyrophilin-like 2 (BTNL2) gene, rs2076530 was reported in systemic sarcoidosis. However, there is no report of evaluation of mutation in BTNL2 gene with the diagnosis of skin sarcoidosis.
Methods: In this study ten patients with skin sarcoidosis were evaluated for the mutation of rs2076530 allele in exon 5 of BTNL2 gene. This assessment was performed by the single strand conformation polymerase chain reaction (SSCP-PCR) in which the existing mutations with positive shift were deteced using directl sequence analysis. Data from sequence analysis were evaluated and blusted by means of Choroms computer software.
Results: Our results showed the BTNL2 G→A transition of rs2076530 in seven patients and three patients were normal.
Conclusion: This pilot study concludes the presence of a mutation at rs2076530 in exon 5 of BTNL2 gene in patients with skin sarcoidosis. Larger studies are needed to evaluate the role of this finding.