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Article Abstract
We present 9-year-old fraternal twins from a family with piebaldism, having congenital depigmented macules and meeting the diagnostic criteria for neurofibromatosis type 1 () due to the multiple café-au-lait macules (CALMs) and intertriginous freckling at the same time. It's still a debatable issue that CALMs and intertriginous freckling may be seen in the clinical spectrum of piebaldism or these patients should be regarded as coexistence of piebaldism and . However, based on recent literature and our patients' findings, we suggest that this rare phenotypic variant of piebaldism may not need the careful clinical follow-up and molecular testing for . Besides, it may be suitable that these individuals with piebaldism showing -like clinical phenotypes should be further tested for and gene mutations.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7992560 | PMC |
| http://dx.doi.org/10.5021/ad.2019.31.5.567 | DOI Listing |
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