Caesiomarble phacomatosisQ84.2

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

OMIM 185300; Phacomatosis pigmentovascularis type Va/b

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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.

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Last updated on: 29.10.2020