Atypical Café‐au‐Lait Macules in a Patient with Koolen‐de Vries Syndrome (17q21.31 Microdeletion Syndrome)
| Autor: | Fred Soeprono, Allison M. Han, Ayan Kusari, Lawrence F. Eichenfield |
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| Rok vydání: | 2019 |
| Předmět: |
Male
medicine.medical_specialty Neurofibromatosis 1 Adolescent Koolen De Vries syndrome Dermatology Risk Assessment Melanosis 030207 dermatology & venereal diseases 03 medical and health sciences Rare Diseases 0302 clinical medicine Intellectual Disability Biopsy medicine Humans Abnormalities Multiple Genetic Predisposition to Disease Neurofibromatosis medicine.diagnostic_test business.industry Cafe-au-Lait Spots Genetic disorder Microdeletion syndrome medicine.disease 17q21.31 microdeletion syndrome Cafe-au-lait macules 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Dermatopathology Chromosome Deletion business Chromosomes Human Pair 17 Follow-Up Studies |
| Zdroj: | Pediatric Dermatology. |
| ISSN: | 1525-1470 0736-8046 |
| DOI: | 10.1111/pde.13849 |
| Popis: | Koolen-de Vries syndrome (KdVS), 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 KdVS (17q21.31 microdeletion syndrome) who presented with diffuse freckling and multiple pigmented lesions, found to be most consistent with atypical café-au-lait macules (CALMs) on biopsy. We review the cutaneous findings commonly associated with KdVS (17q21.31 microdeletion syndrome) and propose the addition of diffuse freckling and atypical CALMs, histologically similar to those that may be found in neurofibromatosis type 1, to the cutaneous findings associated with KdVS (17q21.31 microdeletion syndrome). |
| Databáze: | OpenAIRE |
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