FGFR1 and encephalocraniocutaneous lipomatosis: ECCL is characterized by ocular anomalies, skin lesions (e.g., alopecia, naevus psiloliparus, nodular skin tags, and aplastic scalp defects), and central nervous system anomalies and caused by the postzygotic somatic activating variants p.(Asn546Lys) and p.(Lys656Glu) in FGFR1 (Moog 2009; Bennett et al. 2016).