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Phenotypic overlap with Neurofibromatosis\u20101 is well known, with most patients presenting with caf\u00e9\u2010au\u2010lait macules. Other common features include axillary and\/or inguinal freckling and intracranial MRI foci of high T2W\/FLAIR signal intensity similar to the typical FASI seen in Neurofibromatosis\u20101. In this cohort of eight patients with constitutional mismatch repair deficiency we describe overlapping phenotypical features with Tuberous Sclerosis complex. In addition to \u201cash\u2010leaf like\u201d hypomelanotic macules (five patients), we detected intracranial tuber\u2010like lesions (three patients), renal cysts (three patients) and renal angiomyolipomas (two patients). All our patients also had Neurofibromatosis\u20101 like features, mainly caf\u00e9\u2010au\u2010lait macules. This study suggests that features of Tuberous sclerosis especially when overlapping with those of Neurofibromatosis 1 or malignancies atypical for these syndromes should raise the possibility of constitutional mismatch repair deficiency. Correct diagnosis is essential for appropriate genetic counseling and pre\u2010emptive cancer surveillance.<\/jats:p>","DOI":"10.1111\/cge.13656","type":"journal-article","created":{"date-parts":[[2019,11,15]],"date-time":"2019-11-15T11:04:55Z","timestamp":1573815895000},"page":"296-304","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["The great mimicker: Phenotypic overlap between constitutional mismatch repair deficiency and Tuberous Sclerosis complex"],"prefix":"10.1111","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6758-7673","authenticated-orcid":false,"given":"Mika","family":"Shapira Rootman","sequence":"first","affiliation":[{"name":"Department of Radiology Schneider Children's Medical Center of Israel  Petach Tikva Israel"},{"name":"The Sackler faculty of Medicine Tel Aviv University  Tel Aviv 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