Caesiomarble phacomatosis Q84.2

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

History
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Enjolrs and Mulliken, 2009; Torrelo et al. 2003

Definition
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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)
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These hamartomas (naevi) can be described as blue sclerae, increased growth of a leg and asymmetry of the brain hemispheres and ventricles.

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020