Porokeratosis (PK) is a rare group of acquired or hereditary genodermatosis characterized by an epidermal differentiation disorder and sharing common histology. Their etiopathogenesis is still not fully understood. Porokeratosis of Mibelli (PM) is a rare autosomal form of PK, linked to the MVK and PMVK genes. We aim to establish molecular evidence of PM in our Tunisian patients. 9 PK patients belonging to a cohort of 2 families from central Tunisia were sequenced for PMVK and MVK genes by the Sanger technique. We identified a known nonsense variant, c.412C> T at a heterozygous state in exon 4 of the PMVK gene in 7 patients and 2 of their healthy relatives. A second synonym variant, newly described, c.147A>G, was identified at a heterozygous state in exon 2 of the same gene in 6 patients with porokeratosis of Mibelli (PM) and 4 of their healthy relatives. The same variant was noticed among our patients, members of 2 unrelated families from 2 different Tunisian regions, very likely a founder mutation in our population. The newly described synonym variant found exclusively in our patients with PM, could be a modifier gene. We report the first genetic study of PK in the Tunisian population. Given the phenotypic heterogeneity of our patients, further molecular investigations are required.

ESDR314 - Porokeratosis of Mibelli in the Tunisian Population

The scientific meeting of the European Society for Dermatological Research (ESDR) is held yearly, usually in September. With an international attendance of more than 1000 skin scientists from around the globe, the four-day event includes short oral presentations from peer-reviewed abstracts, keynote lectures from international experts, sponsored symposia, satellite programs, educational events as well as an important focus on posters, networking and building collaborations amongst scientists. For more information about this year’s meeting visit our website.