Abstract

Classifying epidermolysis bullosa (EB) in the new-born period is important because each subtype has different morbidities and prognoses, and diagnostic tests take time to complete and might not be available worldwide. Denuded tongue, which is the complete absence of tongue papillae on the dorsal tongue surface, can be observed in patients with the generalized severe recessive dystrophic type (RDEB-gen-sev).1, 2, 3, 4 Our aim was to study the diagnostic accuracy of absent tongue papillae for predicting the RDEB subtypes. This prospective study included all 223 consecutive patients with an EB diagnosis5 confirmed by mutation analysis seen at DEBRA Chile between 2015 and 2018. Ethic committee approval and informed consent was obtained. The diagnostic criteria analyzed were complete absence, partial absence, and normal tongue papillae, also including normal papillae with a localized chronic ulcer (Fig 1). Age ranged from 2 hours to 75 years, the male-to-female sex ratio was 0.89. The distribution of EB type, subtype, gene affected, absence of tongue papillae, and patient flow diagram can be observed in Supplemental Tables I and II and Supplemental Fig 1 (available via Mendeley at https://doi.org/10.17632/j7fm33t6j2.2).