Phakomatosis caesiomarmorata

Happle 2005

Phakomatosis caesiomarmorata is considered a variant of phakomatosis pigmentovascularis (phakomatosis pigmentovascularis type IV a/b). Phakomatosis pigmentovascularis is a diagnosis that denotes the coexistence of pigmentary and vascular hamartomas of certain types accompanied by variable multisystem involvement, including CNS disease, asymmetric growth and a predisposition to malignancy.

Mutations in the GNAQ or GNA11 genes. The genetic results confirm the role of mosaic somatic mutations in GNAQ and GNA11 in phacomatosis cesioflammea (phacomatosis pigmentovascularis type II) and cesiomarmorata (phacomatosis pigmentovascularis type V). The clinical and molecular findings place these disorders in a clinical spectrum that also includes other disorders related to GNAQ and GNA11. The clinical association is interpreted as a non-allelic twin spot ( Torrelo A et al. 2003)

Phacomatosis caesiomarmorata is characterized by a vascular malformation of the skin (cutis marmorata teleangiectatica) in combination with an ipsi- or contralaterally located pigmentary nevus (Mongolian spot). The syndrome can occur in isolation but also with asymmetries with overgrowth of a lower extremity, blue sclerae, asymmetry of the cerebral hemispheres. The association with hypospadias and melanosis oculi has also been described (Kaur T et al. 2015).

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7. Torrelo A et al. (2003) Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis. Br J Dermatol 148(2):342-345.
8. Polubothu S et al. (2019) Phacomatosis pigmentovascularis spilorosea and speckled lentiginous naevus syndrome are caused by mosaic mutations in gene PTPN11. Pediatr Dermatol 36:S7
9. Thomas AC et al. (2016) Mosaic activating mutations in GNA11 and GNAQ are associated with phacomatosis pigmentovascularis and extensive dermal melanocytosis. J Invest Dermatol 136:770-778.