Background: Among ocular vector-borne pathogens,Onchocerca volvulus, the agent of the so-called “river blindness”, affects about 37 million people globally. OtherOnchocercaspp. have been sporadically reported as zoonotic agents. Cases of canine onchocerciasis caused byOnchocerca lupiare on the rise in the United States and Europe. Its zoonotic role has been suspected but only recently ascertained in a single case from Turkey. The present study provides further evidence on the occurrence ofO. lupiinfesting human eyes in two patients from Turkey (case 1) and Tunisia (case 2). The importance of obtaining a correct sample collection and preparation of nematodes infesting human eyes is highlighted.Methods: In both cases the parasites were identified with morpho-anatomical characters at the gross examination, histological analysis and anatomical description and also molecularly in case 1.Results: The nematode from the first case was obviouslyO. lupibased on their morphology at the gross examination, histological analysis and anatomical description. In the second case, although the diagnostic cuticular characters were not completely developed, other features were congruent with the identification ofO. lupi. Furthermore, the morphological identification was also molecularly confirmed in the Turkish case.Conclusions: The results of this study suggest thatO. lupiinfestation is not an occasional finding but it should be considered in the differential diagnosis of other zoonotic helminths causing eye infestation in humans (e.g.,D. immitisandDirofilaria repens). Both cases came from areas where no cases of canine onchocerciasis were previously reported in the literature, suggesting that an in depth appraisal of the infestation in canine populations is necessary. Physicians and ophthalmologists are advised on how to preserve nematode samples recovered surgically, to allow a definitive, correct etiological diagnosis.

The brittle hair syndrome Trichothiodystrophy (TTD) is characterized by variable clinical features, including photosensitivity, ichthyosis, growth retardation, microcephaly, intellectual disability, hypogonadism, and anaemia. TTD‐associated mutations typically cause unstable mutant proteins involved in various steps of gene expression, severely reducing steady‐state mutant protein levels. However, to date, no such link to instability of gene‐expression factors for TTD‐associated mutations in MPLKIP / TTDN1 has been established. Here, we present seven additional TTD individuals with MPLKIP mutations from five consanguineous families, with a newly identified MPLKIP variant in one family. By mass spectrometry‐based interaction proteomics, we demonstrate that MPLKIP interacts with core splicing factors and the lariat debranching protein DBR1. MPLKIP ‐deficient primary fibroblasts have reduced steady‐state DBR1 protein levels. Using Human Skin Equivalents (HSEs), we observed impaired keratinocyte differentiation associated with compromised splicing and eventually, an imbalanced proteome affecting skin development and, interestingly, also the immune system. Our data show that MPLKIP, through its DBR1 stabilizing role, is implicated in mRNA splicing, which is of particular importance in highly differentiated tissue.

Annular elastolytic giant cell granuloma (AEGCG) is a rare granulomatous and elastolytic skin disease of unknown pathogenesis. Therapy for AEGCG is controversial. The data about the effectiveness of chloroquine in the treatment of AEGCG are also variable. Here, we report a case of AEGCG with significant improvement after a total treatment period of 22 weeks with hydroxychloroquine. Although a possibility of spontaneous remission cannot be ruled out, we think that chloroquine can be considered as an effective treatment of this chronic disorder.