Review of genodermatoses with characteristic histopathology and potential diagnostic delay

Journal of Cutaneous Pathology
Christine J KoKeith A Choate

Abstract

Advances in human genetics have enabled discovery of new genes for inherited skin diseases and cutaneous malformations as well as refined categorization of genodermatoses. Careful phenotyping has been central to genetic discoveries, and it provides critical clues for clinical diagnoses, particularly when the skin disorder is not congenital. This article will review several lesser-known genodermatoses that often present after infancy with recognizable histopathologic features.

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Citations

Sep 18, 2020·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Martino RuggieriConcezio Di Rocco

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