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LETTER TO THE EDITOR
Year : 2016  |  Volume : 7  |  Issue : 2  |  Page : 128-130  

Phakomatosis cesioflammea with bilateral frontal atrophy


1 Department of Dermatology, STD and Leprosy, All India Institute of Medical Sciences, Patna, Bihar, India
2 Department of Radiodiagnosis, All India Institute of Medical Sciences, Patna, Bihar, India

Date of Web Publication4-Mar-2016

Correspondence Address:
Dr. Abhijeet Kumar Jha
Department of Dermatology, STD and Leprosy, All India Institute of Medical Sciences, Patna, Bihar
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2229-5178.178077

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How to cite this article:
Jha AK, Sinha R, Prasad S, Kumar D. Phakomatosis cesioflammea with bilateral frontal atrophy. Indian Dermatol Online J 2016;7:128-30

How to cite this URL:
Jha AK, Sinha R, Prasad S, Kumar D. Phakomatosis cesioflammea with bilateral frontal atrophy. Indian Dermatol Online J [serial online] 2016 [cited 2019 Dec 5];7:128-30. Available from: http://www.idoj.in/text.asp?2016/7/2/128/178077

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

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Figure 2: Nevus flammeus involving the sole

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Figure 3: Aberrant mongolian spot

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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

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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 More Details (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.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Happle R. Phacomatosis pigmentovascularis revisited and reclassified. Arch Dermatol 2005;141:385-8.  Back to cited text no. 1
    
2.
Fernández-Guarino M, Boixeda P, de Las Heras E, Aboin S, García-Millán C, Olasolo PJ. Phakomatosis pigmentovascularis: Clinical findings in 15 patients and review of the literature. J Am Acad Dermatol 2008;58:88-93.  Back to cited text no. 2
    
3.
Comi AM. Presentation, diagnosis, pathophysiology and treatment of the neurologic features of Sturge-Weber Syndrome. Neurologist 2011;17:179-84.  Back to cited text no. 3
    
4.
Okunola P, Ofovwe G, Abiodun M, Isah A, Ikubor J. Phakomatosis pigmentovascularis type IIb in association with external hydrocephalus. BMJ Case Rep 2012;2012. pii: bcr1220115432.  Back to cited text no. 4
    
5.
Goyal T, Varshney A. Phacomatosis cesioflammea:First case report from India. Indian J Dermatol Venereol Leprol 2010;76:307.  Back to cited text no. 5
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