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Review of genodermatoses with characteristic histopathology and potential diagnostic delay
Author(s) -
Ko Christine J.,
Atzmony Lihi,
Lim Young,
McNiff Jennifer M.,
Craiglow Brittany G.,
Antaya Richard J.,
Choate Keith A.
Publication year - 2019
Publication title -
journal of cutaneous pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 75
eISSN - 1600-0560
pISSN - 0303-6987
DOI - 10.1111/cup.13520
Subject(s) - dermatopathology , histopathology , pathology , medical diagnosis , medicine , molecular pathology , biology , genetics , gene
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.