Phakomatosis cesioflammea

Phakomatosis cesioflammea is considered a variant of phakomatosis pigmentovascularis (phakomatosis pigmentovascularis type II a/b). Phakomatosis pigmentovascularis is a rare congenital multisystem disease with variable manifestations in which a vascular malformation of the skin is associated with a pigmentary nevus(Mongolian spot). Asymmetries of the extremities, dysplasia of the veins and lymphatic vessels can be associated as well as a nevus anaemicus.

Ocular involvement: This includes glaucoma, choroidal hemangioma and pigmentary changes that predispose to choroidal melanoma.

In 2008, the Fernández-Guarino review showed that 77% of the 222 cases of phacomatosis pigmentovascularis described up to that point were type II or phacomatosis cesioflammea, of which around 60% had systemic involvement.

Mutation in the GNAQ/GNA11 genes

Diagnosis is based on clinical findings, although recent advances in molecular genetics have better clarified the aetiopathogenesis of the disease.

The introduction of improved imaging techniques such as spectral domain optical coherence tomography with improved depth imaging has provided new insights into the ocular changes and enabled better follow-up of patients.

In 2005, Happle proposed a simplified classification of , in which he listed only three types of phacomatosis pigmentovascularis (PPV):

Phacomatosis cesioflammea (joint occurrence of a Mongolian spot and a nevus flammeus)

Phakomatosis spilorosea (nevus spilus next to a pale pink telangiectatic nevus) and phakomatosis cesiomarmorata (bruises and cutis marmorata telangiectatica congenita).

Sturge-Weber syndrome (SWS) is a neurovascular disorder with a capillary malformation in the face (port wine stain), a capillary-venous malformation in the eye and a capillary-venous malformation in the brain (leptomeningeal angioma) (Comi AM 2011). Brain involvement and SWS should be suspected in any neonate with a port wine stain in the V1 distribution (forehead to one side and/or upper eyelid). Intracranial calcification has been described in association with vascular anomalies other than Sturge-Weber syndrome, such as phacomatosis pigmentovascularis type IIB with external hydrocephalus (Okunola P et al. 2012).

Case report (Jha AK et al. 2016): A one and half year old girl presented with extensive red patch on the face, trunk and limbs and multiple bluish patches mainly on the trunk, buttocks and thighs since birth. The patient had a history of recurrent seizures. Skin examination revealed a naevus flammeus affecting the face, upper chest, back and limbs including the soles of the feet. Aberrant Mongolian spots affecting the upper chest, back, buttocks and limbs. Neurological examination revealed increased muscle tone with muscle twitching. Ophthalmologic examination revealed no abnormalities. Bladder, bowel and other autonomic functions were normal. Computed tomography (CT) revealed calcification of the cortical and subcortical white matter of the left frontal lobe with bilateral frontal atrophy, the left lobe being more atrophied than the right. Interictal electroencephalography (EEG) was normal. A diagnosis of phacomatosis cesioflammea with bilateral frontal atrophy, cortical and subcortical white matter calcification and recurrent seizures was made.

1. Abdolrahimzadeh S et al. (2021) Ocular manifestations in phakomatosis pigmentovascularis: Current concepts on pathogenesis, diagnosis, and management. Surv Ophthalmol 66:482-492
2. Chiu HH et al. (2009) Phakomatosis cesioflammea with late-onset glaucoma and acquired nevus spilus-like lesion - 15 years of follow-up. Int J Dermatol 48:416-418.
3. Comi AM (2011) Presentation, diagnosis, pathophysiology and treatment of the neurologic features of Sturge-Weber syndrome. Neurologist 17:179-184.
4. Fernández-Guarino M et al. (2008) Phakomatosis pigmentovascularis: Clinical findings in 15 patients and review of the literature. J Am Acad Dermatol 58:88-93.
5. Happle R (2005) Phacomatosis pigmentovascularis revisited and reclassified. Arch Dermatol. 141:385-388.

6. Jha AK et al (2016) Phacomatosis cesioflammea with bilateral frontal atrophy. Indian Dermatol Online J. 7:128-130.

7. Okunola P et al. (2012) Phakomatosis pigmentovascularis type IIb in association with external hydrocephalus. BMJ Case Rep:pii-bcr1220115432.
8. Pan Y et al. (2021) Phakomatosis pigmentovascularis IIb (phakomatosis cesioflammea) associated with the absence of infrarenal inferior vena cava. Int J Dermatol 60:647-649.
9. Pan Y et al. (2021) Phakomatosis pigmentovascularis IIb (phakomatosis cesioflammea) associated with the absence of infrarenal inferior vena cava. Int J Dermatol 60:647-649.