Clinical practice guidelines for the diagnosis and treatment of cutaneous leishmaniasis in Turkey.

BACKGROUND: Cutaneous leishmaniasis (CL) is a vector-born parasitic disease characterized by various skin lesions that cause disfiguration if healed spontaneously. Although CL has been endemic for many years in the southern regions of Turkey, an increasing incidence in nonendemic regions is being observed due to returning travelers and, more recently, due to Syrian refugees. Thus far, a limited number of national guidelines have been proposed, but no common Turkish consensus has emerged. OBJECTIVES: The aim of this study was to develop diagnostic and therapeutic guidelines for the management of CL in Turkey. METHODS: This guideline is a consensus text prepared by 18 experienced CL specialists who have been working for many years in areas where the disease is endemic. The Delphi method was used to determine expert group consensus. Initially, a comprehensive list of items about CL was identified, and consensus was built from feedback provided by expert participants from the preceding rounds. RESULTS: Evidence-based and expert-based recommendations through diagnostic and therapeutic algorithms according to local availability and conditions are outlined. CONCLUSION: Because CL can mimic many other skin diseases, early diagnosis and early treatment are very important to prevent complications and spread of the disease. The fastest and easiest diagnostic method is the leishmanial smear. The most common treatment is the use of local or systemic pentavalent antimony compounds.

Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.

The autosomal recessive disorder lipoid proteinosis results from mutations in extracellular matrix protein 1 (ECM1), a glycoprotein expressed in several tissues (including skin) and composed of two alternatively spliced isoforms, ECM1a and ECM1b, the latter lacking exon 7 of this 10-exon gene (ECM1). To date, mutations that either affect ECM1a alone or perturb both ECM1 transcripts have been demonstrated in six cases. However, lipoid proteinosis is clinically heterogeneous with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurological abnormalities such as temporal lobe epilepsy. In this study, we sequenced ECM1 in 10 further unrelated patients with lipoid proteinosis to extend genotype-phenotype correlation and to add to the mutation database. We identified seven new homozygous nonsense or frameshift mutations: R53X (exon 3); 243delG (exon 4); 507delT (exon 6); 735delTG (exon 7); 785delA (exon 7); 892delC (exon 7) and 1190insC (exon 8), as well as two new compound heterozygous mutations: W160X/F167I (exon 6) and 542insAA/R243X (exons 6/7), none of which were found in controls. The mutation 507delT occurred in two unrelated subjects on different ECM1 haplotypes and may therefore represent a recurrent mutation in lipoid proteinosis. Taken with the previously documented mutations in ECM1, this study supports the view that exons 6 and 7 are the most common sites for ECM1 mutations in lipoid proteinosis. Clinically, it appears that mutations outside exon 7 are usually associated with a slightly more severe mucocutaneous lipoid proteinosis phenotype, but neurological features do not show any specific genotype-phenotype correlation.