Subject(s)
COVID-19 , Ectodermal Dysplasia , Ectodermal Dysplasia/diagnosis , Humans , Infant, Newborn , SARS-CoV-2 , ScalpSubject(s)
Antiviral Agents/therapeutic use , COVID-19/therapy , Ectodermal Dysplasia/pathology , Genetic Diseases, X-Linked/pathology , Primary Immunodeficiency Diseases/pathology , Amides/therapeutic use , Azithromycin/therapeutic use , COVID-19/complications , COVID-19/pathology , Child , Ectodermal Dysplasia/complications , Genetic Diseases, X-Linked/complications , Humans , Hydroxychloroquine/therapeutic use , I-kappa B Kinase/genetics , Immunization, Passive , Male , Primary Immunodeficiency Diseases/complications , Pyrazines/therapeutic use , SARS-CoV-2 , COVID-19 SerotherapyABSTRACT
Background: Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder, the features of the syndrome are: chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation resulting in dwarfism, teeth and craniofacial abnormalities and heart defects (mostly endocardial cushions and atrial septal defects). Case presentation: We describe the first case of COVID-19 infection in a 24-years-old girl, diagnosed with EVC syndrome. The patient suffered only from a mild illness, she remained stable with normal saturation without need of neither respiratory support nor specific therapy and she was rapidly discharged.Conclusions: This case appraises the pathophiosiologic interplay between different specific prognostic variable in a syndromic patient with congenital heart disease and COVID-19.