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Atypical Café‐au‐Lait Macules in a Patient with Koolen‐de Vries Syndrome (17q21.31 Microdeletion Syndrome)
Author(s) -
Han Allison M.,
Kusari Ayan,
Soeprono Fred,
Eichenfield Lawrence F.
Publication year - 2019
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13849
Subject(s) - medicine , microdeletion syndrome , neurofibromatosis , dermatology , genodermatosis , pathology , genetics , gene , biology , chromosome
Koolen‐de Vries syndrome (Kd VS ), also referred to as the 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by developmental delay, typical facial dysmorphism, and congenital defects. Associated anomalies include many cutaneous findings. Here, we report a 17‐year‐old boy with Kd VS (17q21.31 microdeletion syndrome) who presented with diffuse freckling and multiple pigmented lesions, found to be most consistent with atypical café‐au‐lait macules ( CALM s) on biopsy. We review the cutaneous findings commonly associated with Kd VS (17q21.31 microdeletion syndrome) and propose the addition of diffuse freckling and atypical CALM s, histologically similar to those that may be found in neurofibromatosis type 1, to the cutaneous findings associated with Kd VS (17q21.31 microdeletion syndrome).