Hoarse cry in a newborn with epidermolysis bullosa simplex, generalized severe. Issue 2 (19th January 2020)

• Record Type: Journal Article
• Authors: Diociaiuti, Andrea; Giancristoforo, Simona; Pisaneschi, Elisa; Condorelli, Angelo Giuseppe; Boldrini, Renata; Zambruno, Giovanna; El Hachem, May
• Is Part Of: Pediatric dermatology. Volume 37:Issue 2(2020)
• Page Start: 393
• Page End: 395
• Publication Date: 2020-01-19
• Subjects: keratin 14 -- laryngeal involvement -- respiratory stridor -- skin and mucosal fragility; Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.14105
• Languages: English
• ISSNs: 0736-8046

Abstract

Abstract: Hoarse cry and respiratory stridor are the signs of potentially life‐threatening laryngeal involvement in selected severe and frequently early lethal subtypes of inherited epidermolysis bullosa (EB). We present a newborn with generalized skin blistering and onychodystrophy who developed a hoarse cry and inspiratory stridor. Ultrastructural skin examination revealed tonofilament clumping in basal keratinocytes and genetic testing identified the de novo missense mutation p.Arg125Cys in the KRT14 gene, consistent with EB simplex generalized severe, which is characterized by major morbidity in infancy but a favorable long‐term prognosis. The present case underlines the importance to consider EB simplex generalized severe in the differential diagnosis of EB infants presenting hoarseness and stridor.