Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathy
YH Lim, D Ovejero, KM Derrick, MT Collins… - Journal of the American …, 2016 - Elsevier
Background We recently demonstrated multilineage somatic mosaicism in cutaneous
skeletal hypophosphatemia syndrome (CSHS), which features epidermal or melanocytic
nevi, elevated fibroblast growth factor (FGF)-23, and hypophosphatemia, finding identical
RAS mutations in affected skin and bone. Objective We sought to:(1) provide an updated
overview of CSHS;(2) review its pathobiology;(3) present a new patient with CSHS; and (4)
discuss treatment modalities. Methods We searched PubMed for “nevus AND rickets,” and …
skeletal hypophosphatemia syndrome (CSHS), which features epidermal or melanocytic
nevi, elevated fibroblast growth factor (FGF)-23, and hypophosphatemia, finding identical
RAS mutations in affected skin and bone. Objective We sought to:(1) provide an updated
overview of CSHS;(2) review its pathobiology;(3) present a new patient with CSHS; and (4)
discuss treatment modalities. Methods We searched PubMed for “nevus AND rickets,” and …