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Year : 2016  |  Volume : 17  |  Issue : 1  |  Page : 48-49

Phacomatosis cesioflammea in a 5-week-old infant

Department of Dermatology, RNT Medical College, Udaipur, Rajasthan, India

Date of Web Publication4-Jan-2016

Correspondence Address:
Lalit Kumar Gupta
Department of Dermatology, Venereology and Leprology, RNT Medical College, Udaipur - 313 001, Rajasthan
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.173149

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A 5-week-old male infant presented with extensive lesions of nevus flammeus and Mongolian spots affecting the face, trunk, buttocks and extremities. In addition, the child had ocular melanosis and a café-au-lait spot on the trunk. The case is being reported on account of its rarity.

Keywords: Cesioflammea, Mongolian spots, nevus flammeus, phacomatosis pigmentovascularis

How to cite this article:
Gupta K, Gupta LK, Mittal A, Khare A K, Mehta S, Balai M. Phacomatosis cesioflammea in a 5-week-old infant. Indian J Paediatr Dermatol 2016;17:48-9

How to cite this URL:
Gupta K, Gupta LK, Mittal A, Khare A K, Mehta S, Balai M. Phacomatosis cesioflammea in a 5-week-old infant. Indian J Paediatr Dermatol [serial online] 2016 [cited 2020 Sep 18];17:48-9. Available from: http://www.ijpd.in/text.asp?2016/17/1/48/173149

  Introduction Top

Phacomatosis pigmentovascularis (PPV), described first in 1947 by Ota,[1] is an association between cutaneous vascular malformation and pigmented nevi, suggesting a defect in the migration of neural crest cells. There is no sex predilection, but is seen more commonly among the Japanese.[2] Since its first description in 1947, 222 cases of PPV had been published till 2007. Subsequently a few more cases have been published.[3],[4],[5] First Indian report of PPV was published in 2010.[3] We report a 5-week-old male infant with coexisting extensive nevus flammeus and pigmentary nevus, on account of its rarity.

  Case Report Top

A 5-week-old male infant born of nonconsanguineous marriage was seen in the skin outpatient department, with pigmentary abnormalities since birth. The child was born full term through normal vaginal delivery. Mother denied the history of any infection or drug intake during pregnancy. None of the family members had similar lesions.

There were multiple large sized Mongolian spots on the trunk, buttocks and legs with extensive nevus flammeus involving face, chest, abdomen, and extremities in a checkerboard pattern [Figure 1]. Palm and soles were also involved. The patient in addition also had a café-au-lait spot measuring 2 cm × 1 cm on the back [Figure 1]b and ocular melanosis affecting both the eyes [Figure 1]c. The general health was unaffected. Ophthalmic and neurologic examination did not reveal any abnormality. Ultrasonography of abdomen was normal. Based on clinical findings, a diagnosis of PPV type I (phacomatosis cesioflammea) was made.
Figure 1: (a) Front profile of patient showing extensive nevus flammeus in a checkerboard pattern. (b) Mongolian spot on back with café au lait macule. (c) Ocular melanosis affecting both eyes

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  Discussion Top

Phacomatosis pigmentovascularis is a rare congenital nevoid syndrome representing an example of paired nevi. Happle et al.[6] proposed the concept of twin spotting (didymosis) to explain this phenomenon. Twin spots consist of two genetically different clones of neighboring cells in a background of normal cells. This formation of twin spot is presumed to be caused by specific somatic recombination. The diagnosis of these cutaneous syndromes is primarily clinical. The main clinical manifestations are nevus flammeus coexisting with pigmentary nevi. The pigmentary nevus of phacomatosis cesioflammea usually corresponds to a nevus of Ota, a nevus of Ito, or a Mongolian spot. Associations include aberrant Mongolian spots, nevus anemicus, pyogenic granuloma, Becker's nevus, renal angiomas and renal agenesis. These patients can also have clinical manifestations of  Sturge- Weber syndrome More Details More Details and Klippel–Trenaunay syndrome.[2]

The nosology and classification of PPV have been confusing. Hasegawa and Yasuhara [1] classified PPV into four types. Each type involves a nevus flammeus with an additional nevus, and is further divided into subtypes a and b. Subtype “a” has cutaneous involvement only while subtype “b” has extracutaneous involvement. In 2003 Torello described Cutis marmorata telangiectasia congenita with Mongolian spot as a type V variant of PPV.[7] In 2005, Happle proposed a newer and simplified classification scheme for PPV including four different categories:[8]

  • Phacomatosis cesioflammea which associates blue spots to nevus flammeus
  • Phacomatosis spilorosea which is characterized by the coexistence of nevus spilus and a pale-pink nevus
  • Phacomatosis cesiomarmorata, the association of a blue spot with cutis marmorata telangiectatica congenita
  • Unclassifiable PPV.

Phacomatosis pigmentovascularis, usually follows one of the patterns proposed by Happle.[9] In the isolated published cases and in the series of Vidaurri-de la Cruz et al., the most common pattern of mosaicism was patchy pattern without midline separation, accounting for 79% of cases. However, in our patient, there was checkerboard type of pattern.

Being a benign nevoid condition, PPV usually requires no treatment in the absence of systemic abnormalities. However, in patients who desire cosmetic improvement, it has been suggested to treat that pigmentary nevus first with Q switched Nd: YAG laser followed by pulse dye laser for nevus flammeus.[10]

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.

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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
Vidaurri-de la Cruz H, Tamayo-Sánchez L, Durán-McKinster C, Orozco-Covarrubias Mde L, Ruiz-Maldonado R. Phakomatosis pigmentovascularis II A and II B: Clinical findings in 24 patients. J Dermatol 2003;30:381-8.  Back to cited text no. 2
Goyal T, Varshney A. Phacomatosis cesioflammea:First case report from India. Indian J Dermatol Venereol Leprol 2010;76:307.  Back to cited text no. 3
[PUBMED]  Medknow Journal  
Garg A, Gupta LK, Khare AK, Kuldeep CM, Mittal A, Mehta S. Phacomatosis cesioflammea with Klippel Trenaunay syndrome: A rare association. Indian Dermatol Online J 2013;4:216-8.  Back to cited text no. 4
[PUBMED]  Medknow Journal  
Shields CL, Kligman BE, Suriano M, Viloria V, Iturralde JC, Shields MV, et al. Phacomatosis pigmentovascularis of cesioflammea type in 7 patients: Combination of ocular pigmentation (melanocytosis or melanosis) and nevus flammeus with risk for melanoma. Arch Ophthalmol 2011;129:746-50.  Back to cited text no. 5
Happle R. Mosaicism in human skin. Understanding the patterns and mechanisms. Arch Dermatol 1993;129:1460-70.  Back to cited text no. 6
Torrelo A, Zambrano A, Happle R. Cutis marmorata telangiectatica congenita and extensive Mongolian spots: Type 5 phacomatosis pigmentovascularis. Br J Dermatol 2003;148:342-5.  Back to cited text no. 7
Happle R. Phacomatosis pigmentovascularis revisited and reclassified. Arch Dermatol 2005;141:385-8.  Back to cited text no. 8
Happle R. Dohi memorial lecture. New aspects of cutaneous mosaicism. J Dermatol 2002;29:681-92.  Back to cited text no. 9
Ono I, Tateshita T. Phacomatosis pigmentovascularis type IIa successfully treated with two types of laser therapy. Br J Dermatol 2000;142:358-61.  Back to cited text no. 10


  [Figure 1]

This article has been cited by
1 The patterns of birthmarks suggest a novel population of melanocyte precursors arising around the time of gastrulation
Veronica A. Kinsler,Lionel Larue
Pigment Cell & Melanoma Research. 2017;
[Pubmed] | [DOI]


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