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LETTER TO EDITOR
Year : 2020  |  Volume : 21  |  Issue : 3  |  Page : 251-252

Macrocephaly – Capillary malformation: A rare association with linear and reticulate portwine stain


1 Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
2 Department of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India

Date of Submission04-Dec-2019
Date of Acceptance29-Mar-2020
Date of Web Publication30-Jun-2020

Correspondence Address:
Dr. Priya Jeevamani Chandrasekaran
Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_121_19

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How to cite this article:
Chandrasekaran PJ, Srinivas SM, Nanjundappa N. Macrocephaly – Capillary malformation: A rare association with linear and reticulate portwine stain. Indian J Paediatr Dermatol 2020;21:251-2

How to cite this URL:
Chandrasekaran PJ, Srinivas SM, Nanjundappa N. Macrocephaly – Capillary malformation: A rare association with linear and reticulate portwine stain. Indian J Paediatr Dermatol [serial online] 2020 [cited 2020 Jul 10];21:251-2. Available from: http://www.ijpd.in/text.asp?2020/21/3/251/288488



Sir,

Macrocephaly – Cutis marmorata telangiectatica congenita (M-CMTC) syndrome, which is recently revised as Macrocephaly–Capillary Malformation (M-CM) syndrome is a rare congenital syndrome of unknown etiology characterized by macrocephaly and vascular lesions in the form of reticulated portwine stains (PWS) or centrofacial CMs.[1] We report a case of linear and reticulate portwine stain involving the lower limb with ipsilateral hemimegalencephaly in a 10-month-old child.

A 10-month-old male, term child born of a nonconsanguineous marriage presented with a history of nonprogressive reddish skin lesions over the left lower limb since birth. The child had seizures since 3 months of age along with delayed developmental milestones. Family history was noncontributory. General physical examination showed macrocephaly and frontal bossing. Cutaneous examination showed reddish macules extending in a linear pattern along the anterolateral aspect of the left thigh and anterior aspect of the left lower leg with few areas of reticulate pattern [Figure 1]a and [Figure 1]b. There was no atrophy of the overlying skin and the lesions showed partial blanching. There was no limb length or girth discrepancy. The lesions did not improve on warming the area. Other cutaneous and systemic examination was normal. Magnetic resonance imaging of the brain showed hemimegalencephaly involving the left cerebral hemisphere [Figure 2]a and a poorly formed corpus callosum [Figure 2]b. Other routine hematological and biochemical investigations were within the normal limits.
Figure 1: (a) Reddish macules extending in a linear pattern along the anterolateral aspect of left thigh and anterior aspect of the left lower leg. (b) Areas of reddish macules in a reticulate pattern over the left lower leg

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Figure 2: (a) T1-weighted magnetic resonance imaging showing hemimegalencephaly involving left cerebral hemisphere. (b) T2 weighted magnetic resonance imaging showing poorly formed corpus callosum

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The possibilities of CMTC and reticular PWS were considered. In view of the absence of distinctive violaceous coarsely reticulated marbled pattern and overlying skin atrophy, the diagnosis of linear and reticulate port wine stain was favored. Our patient fulfilled three major criteria – macrocephaly, CM and neuroimaging showing cerebral asymmetry and two minor criteria – developmental delay and frontal bossing as proposed by Martínez-Glez et al.[2]

Stephan et al. in 1975 first recognized the association of macrocephaly with unusual cutaneous angiomatosis.[3] By 1997, several reports of macrocephaly and CMTC were published and a distinct syndrome of M-CMTC was proposed.[4] Wright et al. in 2009, published 12 new cases and reviewed the previous reports of M-CMTC syndrome. They observed that in their cases as well as the photographs of previous reports, the cutaneous vascular anomalies seen were reticulated or confluent PWS and persistent CMs of the central face, rather than CMTC. They opined that M-CMTC is a misnomer and the name M-CMs more accurately reflects the features of this syndrome.[1] CMTC is a rare, sporadic, congenital vascular malformation that is characterized by its distinctive violaceous coarsely reticulated marbled pattern. There is often associated skin atrophy, ulceration and undergrowth of the involved extremity. These features were absent in our patient. Hemimegalencephaly was observed in our patient. Lapunzina et al. reviewed 75 cases of M-CMTC syndrome and hemimegalencephaly was observed in 27 of the 75 cases.[5]

We report this case for its rarity, unique linear pattern of PWS, and further support the new terminology M-CM syndrome over M-CMTC syndrome.

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.
Wright DR, Frieden IJ, Orlow SJ, Shin HT, Chamlin S, Schaffer JV, et al. The misnomer “macrocephaly-cutis marmorata telangiectatica congenita syndrome”: Report of 12 new cases and support for revising the name to macrocephaly-capillary malformations. Arch Dermatol 2009;145:287-93.  Back to cited text no. 1
    
2.
Martínez-Glez V, Romanelli V, Mori MA, Gracia R, Segovia M, González-Meneses A, et al. Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria. Am J Med Genet A 2010;152A:3101-6.  Back to cited text no. 2
    
3.
Stephan MJ, Hall BD, Smith DW, Cohen MM. Macrocephaly in association with unusual cutaneous angiomatosis. J Pediatr 1975;87:353-9.  Back to cited text no. 3
    
4.
Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, et al. Macrocephaly-cutis marmorata telangiectatica congenita: A distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet 1997;70:67-73.  Back to cited text no. 4
    
5.
Lapunzina P, Gairí A, Delicado A, Mori MA, de Torres ML, Goma A, et al. Macrocephaly-cutis marmorata telangiectatica congenita: Report of six new patients and a review. Am J Med Genet A 2004;130A:45-51.  Back to cited text no. 5
    


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  [Figure 1], [Figure 2]



 

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