Caesiomarble phacomatosisQ84.2
Synonym(s)
OMIM 185300; Phacomatosis pigmentovascularis type Va/b
HistoryThis section has been translated automatically.
Enjolrs and Mulliken, 2009; Torrelo et al. 2003
DefinitionThis section has been translated automatically.
Sporadically occurring, binary genodermatosis (mosaic dermatosis; see also pigment-vascular phacomatoses), which is characterized by the joint occurrence of aberrant Mongolian spots and a Cutis marmorata teleangiectatica congenita.
Note(s)This section has been translated automatically.
These hamartomas (naevi) can be described as blue sclerae, increased growth of a leg and asymmetry of the brain hemispheres and ventricles.