Review of genodermatoses with characteristic histopathology and potential diagnostic delay. (27th June 2019)

• Record Type: Journal Article
• Authors: Ko, Christine J.; Atzmony, Lihi; Lim, Young; McNiff, Jennifer M.; Craiglow, Brittany G.; Antaya, Richard J.; Choate, Keith A.
• Is Part Of: Journal of cutaneous pathology. Volume 46:Number 10(2019)
• Page Start: 756
• Page End: 765
• Publication Date: 2019-06-27
• Subjects: genetic -- genodermatosis -- psoriasiform -- stiff skin syndrome -- verruciform xanthoma; Skin -- Diseases -- Periodicals; Dermatology -- Periodicals; 616
• DOI: 10.1111/cup.13520
• Languages: English
• ISSNs: 0303-6987

Abstract

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.