Dear Editor, Reports on COVID-19 in children are limited. Despite new data emerging, and understanding of the disease improves rapidly, there are as yet several features and complications related to the disease that remain unknown. Herein, we report the first case of a child with chilblains and retinal vasculitis related to COVID-19. An 11-year-old patient arrived at the Dermatology Emergency Department with a 2-week history of asymptomatic plaques on his toes. He did not complain of fever, respiratory symptoms (as cough or dyspnoea), headache, malaise, sore throat, nasal congestion or diarrhoea. He had no history of family exposure, and he was taking strict social distancing measures due to the Spanish Government restrictions applied on 13 March 2020. Physical examination showed oedematous and erythematous to violaceous plaques on the dorsal toes of both feet (Fig. 1). These lesions were clinically compatible with chilblains. A nasopharyngeal sample was obtained, and a reverse transcription polymerase chain reaction (RT-PCR) was negative for SARS-CoV-2. Serologic tests (both immunochromatographic and chemiluminescence immunoassay) showed negative SARS-CoV-2 IgM with positive IgG antibodies. Complementary studies, including Author contributions Drs Quintana-Castanedo Feito-Rodr ıguez and Mayor-Ibarguren conceptualized and designed the study, coordinated and drafted the initial manuscript, and reviewed and revised the manuscript. Drs Fern andez-Alcalde, Granados-Fern andez, Montero-Vega and de Lucas-Laguna designed the data collection instruments, collected data, carried out the initial analyses, and reviewed and revised the manuscript. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.
Our purpose was to identify mutations responsible for non-syndromic congenital cataracts through the implementation of next-generation sequencing (NGS) in our center. A sample of peripheral blood was obtained from probands and willing family members and genomic DNA was extracted from leukocytes. DNA was analyzed implementing a panel (OFTv2.1) including 39 known congenital cataracts disease genes. 62 probands from 51 families were recruited. Pathogenic or likely pathogenic variants were identified in 32 patients and 25 families; in 16 families (64%) these were de novo mutations. The mutation detection rate was 49%. Almost all reported mutations were autosomal dominant. Mutations in crystallin genes were found in 30% of the probands. Mutations in membrane proteins were detected in seven families (two in GJA3 and five in GJA8). Mutations in LIM2 and MIP were each found in three families. Other mutations detected affected EPHA2, PAX6, HSF4 and PITX3. Variants classified as of unknown significance were found in 5 families (9.8%), affecting CRYBB3, LIM2, EPHA2, ABCB6 and TDRD7. Mutations lead to different cataract phenotypes within the same family.
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