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Year : 2013  |  Volume : 14  |  Issue : 1  |  Page : 36-38

Cutis marmorata congenita telangiectatica, Klippel-Trenaunay-Weber syndrome or both combined

Department of Neonatology, Princess Anne Hospital, Southampton, United Kingdom

Date of Web Publication23-Aug-2013

Correspondence Address:
Alok Sharma
Department of Neonatology, Princess Anne Hospital, Coxford Road, Southampton
United Kingdom
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.116860

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Cutis marmorata telangiectatica congenita (CMTC) is a congenital cutaneous vascular anomaly evident as persistent cutis marmorata, telangiectasia and phlebectesia. Klippel-Trenaunay-Weber syndrome (KTW) consists of port wine stains, varicose veins and limb hypertrophy. A term baby was delivered shocked with an extensive cutaneous malformation resembling a port wine stain with hypertrophied forearm and fingers. Deep substance hemangiomas were seen in the liver raising the possibility of KTW syndrome. With resuscitation over the next few days, the malformation evolved into a more marbled appearance with axillary phlebectesia. This along with the presence of syndactyly raised the potential for CMTC but did not explain the liver hemangioma or bony hypertrophy. In this case, there some features of CMTC and some of KTW syndrome raising the possibility of their coexistence in the same case. Sturge-Weber syndrome, KTW syndrome and CMTC may be included in a spectrum of vascular diseases that are associated with other developmental defects of the mesoderm during embryonic life. The variability in presentation with overlap, which is seen in these conditions, may have a common pathophysiology explained by the Happle gene hypothesis.

Keywords: Hemangioma, malformation, vascular

How to cite this article:
Sharma A. Cutis marmorata congenita telangiectatica, Klippel-Trenaunay-Weber syndrome or both combined. Indian J Paediatr Dermatol 2013;14:36-8

How to cite this URL:
Sharma A. Cutis marmorata congenita telangiectatica, Klippel-Trenaunay-Weber syndrome or both combined. Indian J Paediatr Dermatol [serial online] 2013 [cited 2022 Jan 16];14:36-8. Available from: https://www.ijpd.in/text.asp?2013/14/1/36/116860

  Introduction Top

Vascular malformations at birth can be as straight forward as being a simple capillary hemangioma or can present a conundrum for diagnosis.

Klippel-Trenaunay-Weber (KTW) syndrome is a genetic syndrome characterized by localized hemangiomas, venous varicosities and asymmetric osseous hypertrophy of the extremities. [1] Cutis marmorata telangiectatica congenita (CMTC) is an uncommon, sporadic congenital vascular malformation characterized by a generalized or localized reticulated cutaneous vascular network. [2] We present a neonate born in a setting of hypoxia-ischemia who had features of both. While diagnostic overlap has been alluded to [1],[2] the potential that the conditions may coexist has never been described.

  Case Report Top

A term female infant was delivered to non-consanguineous parents in a setting of neonatal hypoxia-ischemia. She was shocked and had an extensive non-blanching cutaneous vascular malformation on her trunk and legs at birth, which was very faint to start off with. There were petechiae with thrombocytopenia and deranged coagulation [Figure 1].
Figure 1: Poorly demarcated faint vascular lesion with petechiae on day 1

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She also had bony hypertrophy of her fingers and syndactyly [Figure 2]. Her coagulopathy and petechiae resolved over 48 h as her platelet count improved. Ultrasounds revealed deeper venous varicosities, deep substance calcified hemangioma in her liver and venous malformations in the neck [Figure 3]. As she gradually improved from her hypoxia ischemia, after a few days the exact nature of the skin lesion revealed itself as the faint lesion gave way to an extensive superficial demarcated vascular lesion with a reticulated marbled appearance and underlying phlebectasia [Figure 4].
Figure 2: Bony hypertrophy middle finger

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Figure 3: Computed tomography scan calcified liver hemangioma

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Figure 4: Reticular marbled appearance with varicosities (phlebectasia) on day 3

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  Discussion Top

When this child was born, she had asymmetric osseous hypertrophy, along with deep substance hemangiomas with a superficial vascular lesion raising the possibility of KTW syndrome. In addition, the thrombocytopenia, coagulopathy and petechiae were thought to represent Kasabach-Merritt syndrome, which can be associated. [1] With gradual resolution of shock over the first 72 h her cutaneous malformation assumed a more demarcated appearance classical for CMTC and phlebectasia. Syndactyly and bony dysplasia may be associated [Figure 4] and [Figure 5]. [2]
Figure 5: Cutis marmorata with axillary phlebectasia on day 3

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The deeper vascular malformations [hemangiomas and venous varicosities in the neck seen in [Figure 3] and [Figure 6] were more in keeping with KTW syndrome and difficult to explain with CMTC alone. Our pediatric Dermatologist's opinion was that the clinical course would need to be followed, but both were possible. Additional anomalies have been frequently reported in association with CMTC. Common findings include body asymmetry (usually limb hyperplasia or hypoplasia), glaucoma, hypoplasia or aplasia (ranging from transverse limb defects to localized aplasia cutis congenita to a cleft palate) and macrocephaly. [2] At 6 months, our case had neither the ocular anomalies nor macrocephaly, is developmentally normal and the skin lesion has not faded. A review of the literature reveals that this is not the first reported case causing a diagnostic conundrum. Features of CMTC may overlap with manifestations of other overgrowth syndromes with vascular malformations, particularly KTW syndrome. In another case series, most patients were initially misdiagnosed as having KTW syndrome. [3] The presence of macrocephaly, syndactyly or polydactyly; developmental delay; and joint and skin laxity may help to distinguish CMTC from KTW syndrome. In contrast, the venous varicosities and lymphangiectasia may help to distinguish KTW syndrome from CMTC, but may not be evident until later in life. The problem is this child has features of both conditions.
Figure 6: Varicosities in the neck

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The key question is while these disorders may be part of a spectrum in addition to being isolated syndromes whether they may well co-exist? The proposal is they can.

Further is this biologically plausible. It has been reported that Sturge- Weber syndrome More Details, KTW syndrome and CMTC may be included in a group of vascular diseases that are associated with other developmental defects of the mesodermal system during the embryonic life. Features may overlap. [1],[2],[3] Further the variability in presentation with overlap, which is seen with both these disorders may have a common pathophysiology related to the Happle gene hypothesis. Happle proposed that a number of developmental disorders of skin are a result of lethal genes surviving by mosaicism. It is the mosaicism that may explain the variable and overlapping manifestations. It has been proposed as an underlying cause for both the conditions CMTC and KTW and might explain how the conditions may co-exist. [4],[5]

  Conclusion Top

The implications of recognizing this as a possibility is because the prognosis and clinical course may be different as compared with when they occur in isolation.

  References Top

1.Redondo P, Aguado L, Martínez-Cuesta A. Diagnosis and management of extensive vascular malformations of the lower limb: Part II. Systemic repercussions corrected, diagnosis, and treatment. J Am Acad Dermatol 2011;65:909-23.  Back to cited text no. 1
2.Amitai DB, Fichman S, Merlob P, Morad Y, Lapidoth M, Metzker A. Cutis marmorata telangiectatica congenita: Clinical findings in 85 patients. Pediatr Dermatol 2000;17:100-4.  Back to cited text no. 2
3.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. 3
4.Happle R. Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 1987;16:899-906.  Back to cited text no. 4
5.Devillers AC, de Waard-van der Spek FB, Oranje AP. Cutis marmorata telangiectatica congenita: Clinical features in 35 cases. Arch Dermatol 1999;135:34-8.  Back to cited text no. 5


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]


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