Phakomatosis cesioflammea with bilateral frontal atrophy

Sir,

A one-and-a-half–year-old female child presented with an extensive red patch over the face, trunk and limbs along with multiple bluish patch predominantly on the trunk, buttocks and thighs since birth. The patient had a history of recurrent seizures. On cutaneous examination revealed a nevus flammeus involving the face [Figure 1], upper chest, back, limbs including soles [Figure 2]. Aberrant Mongolian spots involving the upper chest, back, buttocks [Figure 3], and limbs. Neurological examination revealed increased muscle tone and exaggerated tendon jerks. Ophthalmological examination revealed no abnormality. Bladder, bowel, and other autonomic functions were normal. Computed tomography (CT) scan revealed cortical and subcortical white matter calcification of the left frontal lobe with bilateral frontal atrophy where left lobe is more atrophied than right lobe [Figure 4]. Interictal electroencephalography (EEG) was normal. A diagnosis of phakomatosis cesioflammea with bilateral frontal atrophy, cortical, and subcortical white matter calcification with recurrent seizures was made.

Figure 1.

Nevus flammeus involving the face

Figure 2.

Nevus flammeus involving the sole

Figure 3.

Aberrant mongolian spot

Figure 4.

Computed tomography scan shows cortical and subcortical white matter calcification on left frontal lobe with bilateral frontal atrophy where left lobe is more atrophied than right lobe

Happle in 2005 proposed a simplified classification where he included only three types of phakomatosis pigmentovascularis (PPV): phakomatosis cesioflammea (blue spots and nevus flammeus); phakomatosis spilorosea (nevus spilus coexisting with a pale-pink telangiectatic nevus); and phakomatosis cesiomarmorata (blue spots and cutis marmorata telangiectatica congenita).[1] In 2008, the Fernández-Guarino revision showed that 77% of the 222 cases of PPV described until then were of type II or cesioflammea, of which around 60% had systemic involvement. A series of 15 PPV cases reported percentages similar to previous series regarding the distribution of presentations.[2] Sturge–Weber syndrome (SWS) is a neurovascular disorder with a capillary malformation of the face (port wine stain), a capillary-venous malformation in the eye, and a capillary–venous malformation in the brain (leptomeningeal angioma).[3] Brain involvement and SWS should be suspected in any newborn 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 SWS such as phakomatosis pigmentovascularis type IIB with external hydrocephalus.[4] A few cases of phakomatosis cesioflammea with intracranial calcification have been reported after 2010 when the first case report of phakomatosis cesioflammea from India was published.[5] We report a case of phakomatosis cesioflammea with bilateral frontal atrophy, cortical, and subcortical white matter calcification, and recurrent seizures in an 18 month old, which is rare. While there are case reports of phakomatosis cesioflammea occurring with SWS or Klippel–Trenaunay syndrome (KTS), associating our case with SWS or KTS would be a matter of debate.

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Conflicts of interest

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