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Year : 2015  |  Volume : 16  |  Issue : 4  |  Page : 258-260

Phacomatosis cesioflammea and Sturge-Weber syndrome overlap in a 2-year-old boy

1 Department of Dermatology, STD and Leprosy, GB Pant Hospital, Government Medical College (University of Kashmir), Srinagar, Jammu and Kashmir, India
2 Department of Ophthalmology, GB Pant Hospital, Government Medical College (University of Kashmir), Srinagar, Jammu and Kashmir, India
3 Department of Pediatrics, GB Pant Hospital, Government Medical College (University of Kashmir), Srinagar, Jammu and Kashmir, India
4 Department of Medicine, SMHS Hospital, GB Pant Hospital, Government Medical College (University of Kashmir), Srinagar, Jammu and Kashmir, India

Date of Web Publication24-Sep-2015

Correspondence Address:
Iffat Hassan
Department of Dermatology, STD and Leprosy, SMHS Hospital, Government Medical College (University of Kashmir), Srinagar, Jammu and Kashmir
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.165640

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Phacomatosis pigmentovascularis (PPV) is a rare cutaneous congenital malformation syndrome, characterized by the simultaneous occurrence of cutaneous vascular and pigmentary anomalies. Only one case of phacomatosis cesioflemmea has been reported so far from India. We hereby report a second case of the disorder in a two year old boy, who presented with Mongolian spot and nevus flemmus. Our case had systemic involvement in the form of Sturge Weber Syndrome (SWS) with glaucoma, buphthalmos and MRI findings of cerebral cortical atrophy and enlarged choroid plexus.

Keywords: Mongolian spot, nevus flammeus, phacomatosis cesioflammea

How to cite this article:
Hassan I, Yaseen A, Qureshi T, Ahmad K, Shah PA. Phacomatosis cesioflammea and Sturge-Weber syndrome overlap in a 2-year-old boy. Indian J Paediatr Dermatol 2015;16:258-60

How to cite this URL:
Hassan I, Yaseen A, Qureshi T, Ahmad K, Shah PA. Phacomatosis cesioflammea and Sturge-Weber syndrome overlap in a 2-year-old boy. Indian J Paediatr Dermatol [serial online] 2015 [cited 2021 Jan 23];16:258-60. Available from: https://www.ijpd.in/text.asp?2015/16/4/258/165640

  Introduction Top

Phacomatosis pigmentovascularis, a congenital malformation syndrome, first described by Ota et al., in 1947, was initially classified into four types, with subtypes (a) and (b) representing the absence or presence of systemic involvement respectively. [1],[2] Type I- nevus flammeus and nevus pigmentosus et verrucosus, type II- nevus flammeus with aberrant Mongolian spots, type III nevus flammeus and nevus spilus, type IV nevus flammeus, aberrant Mongolian spots, nevus spilus and nevus anemicus. It has been reported that a fifth type is defined by cutis marmorata and aberrant Mongolian blue spots. [3] In 2005, Rudolph Happle [4],[5] reclassified the disorder into three types: Phacomatosis cesioflammea, phacomatosis spilorosea and phacomatosis cesiomarmorata. We hereby report a case of phacomatosis cesioflammea overlapping with Sturge Weber syndrome, in a two year old boy.

  Case report Top

A two year old male child, third in birth order, product of a non consanguineous marriage, presented with a history of generalized tonic clonic seizures since the age of nine months. The child was put on daily antiepileptics and had remained seizure free for about a year now. His parents also gave history of reddish discolouration of the left side of face and a bluish grey discolouration of the trunk since birth. However, the latter had faded at a few places and completely cleared at others, while the former was stationary in nature. Family history was noncontributory and the child was developmentally normal.

The patient was in good general health with normal mental and physical development. Cutaneous examination revealed a diffuse, aberrant, well defined, macular dermal pigmentary lesion, diagnosed as a giant Mongolian spot over the back with extension to the limbs proximally, the sides of the chest and abdomen, and a few patches below the umbilicus [Figure 1]a and b].The child also had a unilateral left sided facial port wine stain, that spared the mandibular region [Figure 1]c]. Additional port wine stains were randomly distributed on the mid back, left side of abdomen [Figure 1]a and b], left buttock and the upper part of left thigh posteriorly, lateral border of left foot with extension to its dorsal and plantar surfaces as well as lower one third of the ipsilteral leg laterally [Figure 2]a and b]. On the left side of the forehead the two cutaneous lesions were found to overlap [Figure 2]c], elsewhere they occurred independent of each other. On applying digital pressure on the port wine stain blanching was readily identified. No bruit or thrill was heard on auscultating these vascular lesions.
Figure 1: (a) Mongolian spot covering the whole back, with a small area of cental sparing where a port wine stain can be seen, (b) Mongolian spot extending anteriorly to the chest and abdomen, A port wine stain can be seen on the abdomen, (c) Unilateral facial port wine stain. An overlap of portwine stain and Mongolian spot can be seen on the left side of forehead

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Figure 2: (a) Port wine stain on the left buttock and thigh, (b) Nevus flemmus on the left foot, (c) Bupthalmos affecting the left cornea with bluish discolouration of the ipsilateral sclera

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A thorough ophthalmological examination showed melanosis bulbi in the form of bluish discolouration of the left sclera along with buphthalmos of the same eye [Figure 2]c]. Fundus examination was normal. Tonometric evaluation revealed raised intraocular pressure in the affected eye. All other mucous membranes were normal. Neurological examination showed all the four limbs to be symmetrical with normal power, tone and reflexes.

Hematological and biochemical profile was unremarkable. Skull radiograph was normal. MRI brain showed cortical atrophic changes involving the left temporoparietal and occipital regions with promonent extracerebral CSF spaces and prominent ipsilateral choroid plexus of left ventricle [Figure 3]a-c].

A history of seizure disorder, cutaneous finding of facial port wine stains, presence of glaucoma with buphthalmos and the MRI brain findings of cortical atrophy and enlarged choroid plexus confirmed the diagnosis of Sturge Weber syndome. Based on the occurrence of port wine stains, ocular melanosis and diffuse aberrant Mongolian Spots a diagnosis of phacomatosis cesioflammea was made in our patient.
Figure 3: Magnetic resonance imaging of the brain showing a. left temporoparietal atrophy, (b) left occipital atrophy, and (c) prominent extracerebral cerebrospinal fluid spaces

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  Discussion Top

The term phacomatosis (Greek phakos = nevus) was originally used to describe some neurocutaneous syndromes but today its main application is for genetically determined diseases characterized by the presence of two or more different nevi, such as "phacomatosis pigmentovascularis" or "phacomatosis pigmentokeratotica". [1] The pathogenesis of PPV has been attributed to twin spotting. [6] In this hypothesis, somatic mutations on nearby genes lead to mosaic spots in close proximity to one another.

Happle introduced a new simple classification for PPVs that encompassed four groups. [4]

  • Phacomatosis cesioflammea (Latin caesius = bluish grey): Identical to traditional types II a and b, this type is characterized by a coexistence of one or more aberrant blue spots-Mongolian spots, and one or more port-wine stains. Associated extracutaneous abnormalities include central nervous system defects [7] , ocular anomalies such as melanosis bulbi or glaucoma [7] , asymmetrical limb length [8] , or nevus anemicus. [9],[10]
  • Phacomatosis spilorosea (Latin rosea = rose red to pink) Identical to traditional types III a and b, this type is characterized by the coexistence of nevus spilus and a telangiectatic nevus.
  • Phacomatosis cesiomarmorata: This type of PPV is characterized by a coexistence of aberrant Mongolian spot and cutis marmorata telangiectatica.
  • The fourth group-phacomatosis multiplex is comprised of unclassifiable PPV. One such case described was a combination of port wine stain, congenital Becker's nevus, cafe-au-lait macules (CALM) and lentigines. [11],[12]
Phacomatosis cesioflammea is the most common type of all PPVs. In a series of 24 consecutive cases no other type was recognized. [10] It may be present in any population and geographic area. [12] A single case of nevus cesioflemmea comprising of co occurence of nevus flemmus and Mongolian spot has been reported from Indian population and the figure from around the word is only 200. [13],[14] Ours is the second case of nevus cesioflemmea with the additional extracutaneous findings of bupthalmos and glaucoma.

The prognosis of PPV varies from patient to patient. For PPV without systemic involvement, pulsed dye laser can be helpful for vascular lesions for a better cosmetic outcome and Q switched laser can be beneficial for pigmentary nevi. Some authors suggest that pigmentary nevi should be treated first. [15]

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Conflicts of Interest

There are no conflicts of interest.

  References Top

Hasegawa Y, Yasuhara M. Phakomatosis pigmentovascularis type IVa. Arch Dermatol 1985;121:651-5.  Back to cited text no. 1
Hasegawa Y, Yasuhara M. A variant of phakomatosis pigmentovascularis. Skin Res 1979;21:178-86.  Back to cited text no. 2
Torrelo A, Zambrano A, Happle R. Cutis marmorata telangiectatica congenital and extensive Mongolian spots: type 5 phacomatosis pigmentovascularis. Br J Dermatol 2003;148:342-5.  Back to cited text no. 3
Happle R. Phacomatosis pigmentovascularis: Revisited and reclassified. Arch Dermatol 2005;141:385-8.  Back to cited text no. 4
Ota M, Kawamura T, Ito N. Phakomatosis pigmentovascularis. Jpn J Dermatol 1947;52:1-3.  Back to cited text no. 5
Danarti R, Happle R. Paradominant inheritance of twin spotting: phacomatosis pigmentovascularis as a further possible example. Eur J Dermatol 2003;13:612.  Back to cited text no. 6
Ruiz-Maldonado R, Tamayo L, Laterza AM, Brawn G, Lopez A. Phacomatosis pigmentovascularis: A new syndrome? Report of four cases. Pediatr Dermatol1987;4:189-96.  Back to cited text no. 7
Furukawa T, Igata A, Toyokura Y, Ikeda S. Sturge-Weber and Klippel-Trenaunay syndrome with nevus of Ota and Ito. Arch Dermatol 1970;102:640-5.  Back to cited text no. 8
Du LC, Delaporte E, Catteau B, Destée A, Piette F. Phacomatosis pigmentovascularis type II. Eur J Dermatol 1998;8:569-72.  Back to cited text no. 9
Vidaurri-de la Cruz H, Tamayo-Sanchez L, Duran-McKinster C, Orozco-Covarrubias Mde L, Ruiz-Maldonado R. Phacomatosis pigmentovascularis IIA and IIB: Clinical findings in 24 patients. J Dermatol 2003;30:381-8.  Back to cited text no. 10
Chen W, Happle R. Phacomatosis pigmentovasculosebacea: An unusual case of phacomatosis multiplex Eur J Dermatol 2003;13:231-3.  Back to cited text no. 11
Joshi A, Garg VK, Agrawal S, Agarwalla A, Thakur A. Port-wine-stain (nevus flammeus), congenital Becker's nevus, cafe-au-lait-macule and lentigines: Phakomatosis pigmentovascularis type Ia - A new combination. J Dermatol 1999;26:834-6.  Back to cited text no. 12
Joshi A, Sah SP, Agrawal S, Agrawalla A, Jacob M. Bilateral extensive port wine stain (naevus flammeus) with persistant aberrant Mongolian spots: Phakomatosis pigmentovascularis type II a in a Nepalese girl. Ind J Dermatol 2000;45:41-3.  Back to cited text no. 13
Goyal T, Varshney A. Phacomatosis cesioflammea: First case report from India. Indian J Dermatol, Venereol, Leprol. 2010;76: 307.  Back to cited text no. 14
Ono I, Tateshida T. Phakomatosis pigmentovascularis type IIa: successfully treated with two types of laser therapy. Br J Dermatol 2001; 142: 358-61.  Back to cited text no. 15


  [Figure 1], [Figure 2], [Figure 3]


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