Even more rare associations have been reported with tuberous sclerosis of Bourneville (tuberous sclerosis complex subunit-1, -2 genes (TSC1, TSC2; ORPHA: 805) [34], neurofibromatosis type-1 (von Recklinghausen disease, NF1 gene; ORPHA: 636) [35] and CHAPLE syndrome (CD55 deficiency with hyperactivation of complement, angiopathic thrombosis and protein-losing enteropathy; ORPHA: 566175) [36]. Here, TSC2 is linked to neurofibromatosis type 1.