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CASE REPORT
Year : 2016  |  Volume : 17  |  Issue : 3  |  Page : 215-217

Macrocephaly with cutis marmorata telangiectatica congenita: Appending a case in literaure


1 Department of Pediatrics, Sri Aurobindo Medical College and PG Institute, Indore, Madhya Pradesh, India
2 Central Research Laboratory, Sri Aurobindo Medical College and PG Institute, Indore, Madhya Pradesh, India

Date of Web Publication5-Jul-2016

Correspondence Address:
Aditii Majethia
Department of Pediatrics, Sri Aurobindo Medical College and PG Institute, Indore, Madhya Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-7250.179485

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  Abstract 

Macrocephaly with cutis marmorata telangiectatica congenita (M-CMTC) is a cutaneous disorder often accompanied by additional anomalies, most commonly segmental overgrowth. Recently, a clinically discrete condition has been described comprising CMTC and congenital macrocephaly together with pre- and post-natal macrosomia, segmental overgrowth, central nervous system malformations, connective tissue abnormalities, and intellectual handicap. We describe the natural history of M-CMTC syndrome of an 11-month-old female child first born of nonconsanguinous marraige brought to us with complaints of delayed development, asymmetric swelling over the body, and progressively increasing head size. On examination, we found macrocephaly, frontal bossing, segmental hypertrophy of right side of face, left side of upper limb and right side of lower limb, multiple hemangiomas over philtrum and nape of neck, cutis marmorata over bilateral upper limbs, hypotonia, laryngomalacia, bilateral syndactyly, hyperextensibility of joints, and magnetic resonance imaging showing arrested hydrocephalus; all these features fitting into a rare disorder known as M-CMTC. M-CMTC is a multisystem disorder and a team of specialist pediatrics, dermatology, neurology and radiology is needed to diagnose and treat such patients.

Keywords: Cutis marmorata telangiectatica congenita, macrocephaly, syndactyly


How to cite this article:
Mulye S, Majethia A, Kumar R. Macrocephaly with cutis marmorata telangiectatica congenita: Appending a case in literaure. Indian J Paediatr Dermatol 2016;17:215-7

How to cite this URL:
Mulye S, Majethia A, Kumar R. Macrocephaly with cutis marmorata telangiectatica congenita: Appending a case in literaure. Indian J Paediatr Dermatol [serial online] 2016 [cited 2019 Feb 19];17:215-7. Available from: http://www.ijpd.in/text.asp?2016/17/3/215/179485


  Introduction Top


Macrocephaly with cutis marmorata telangiectatica congenita (M-CMTC) is a rare congenital vascular disorder that usually manifests in affecting the blood vessels of the skin. The condition was first recognized and described in 1922 by van Lohuizen.[1] Since that time, there have been <140 cases reported in the literature, there are likely many more affected individuals who have been misdiagnosed, are unrecognized or have not been published in the medical literature.[2] The syndrome is characterized by macrocephaly, neonatal hypotonia, developmental delay, segmental overgrowth, syndactyly, asymmetry, connective tissue defects, and vascular stains. M-CMTC is an uncommon, sporadic congenital vascular malformation characterized by a generalized or localized reticulated cutaneous vascular network. Usually, observed at birth or shortly thereafter in 94% of patients,[3] in other reports, patients did not develop skin lesions until 3 months or even 2 years after birth. Females are typically affected more often than males (64%).

It has a marbled bluish to deep-purple appearance. The dark skin lesions often show a palpable loss of dermal substance. The reticulated mottling frequently appears more prominent in a cold environment (physiologic cutis marmorata), but tends not to disappear with warming. Hence, the erythema may be worsened by cooling, physical activity, or crying.

CMTC frequently involves the extremities, with the lower extremities followed by the upper extremities, trunk, and face show hypertrophy resulting in limb circumference discrepancy.


  Case Report Top


One-year-old female child first born of nonconsanguineous marriage by normal vaginal delivery to a 22 year primigravida with birth weight 2.5 kg antenatal history of polyhydramnios (amniotic fluid index = 30) and hyperemesis gravidarum, brought to us with complaints of gradually increasing asymmetric swelling over the body since birth, multiple hyperpigmented patches all over the body, noisy breathing, and delayed development (milestones achieved by 11 months: Sits without support, bidextrous grasp, monosyllables, stranger anxiety). Outside, thyroid and torch profile were uneventful.

On clinical examination, she had port wine stain over philtrum and nape of the neck, and segmental hypertrophy (right side of the face, left upper limb, and right lower limb). There was macrocephaly with head circumference of 51 cm (>95th percentile). Bilateral syndactyly, cutis marmorata, laryngomalacia, hypotonia, and hyperlaxity of hip joint was also found in the patient [Figure 1].
Figure 1: (a) Telangiectasia over the philtrum and forehead. (b) Generalized cutis marmorata/mottling over body. (c) Asymmetrical hypertrophy of lower limbs. (d) bilateral syndactyly of 2nd and 3rd toe

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Magnetic resonance imaging brain was done, which shows prominent ventricles with rounding over frontal and temporal horns with curved margins of 3rd ventricle, without periventricular ooze in T1 and T2 images [Figure 2]. It is suggestive of arrested hydrocephalus.
Figure 2: T1 axial image of magnetic resonance imaging brain showing arrested hydrocephalus

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  Discussion Top


CMTC is a rare cutaneous vascular anomaly presenting at birth with reticulate purplish network intermingled with telangiectasia that may be localized or generalized and does not completely resolve within a warm environment. It has been described in association with extracutaneous abnormalities of varying severity ranging from 18.8% to 80% of affected individuals.[3],[4],[5]

M-CMTC is a rare disorder, and only four cases have been reported till date (3 from Chandigarh and 1 from Loni, Maharashtra, India).[6],[7] It is caused by mutations in PIK3CA gene. Diagnosis is made clinically. Franceschini et al.[8] proposed macrocephaly and at least two other findings (overgrowth, CMTC, angiomata, polydactyly/syndactyly, asymmetry). Robertson et al.[9] proposed congenital macrocephaly and CMTC as the major criteria and a minimum of four minor criteria (neonatal hypotonia, developmental delay, connective tissue defect, frontal bossing, midline facial nevus flammeus, toe syndactyly, segmental overgrowth, and hydrocephalus). Out of these clinical criterion, seven clinical findings (neonatal hypotonia, midline facial nevus flammeus, connective tissue defect, developmental delay, toe syndactyly segmental overgrowth, hydrocephalus) were present in our patient. Similar to other previous reports, our patient developed macrocephaly postnatally.[10]

A skin biopsy is not necessary in CMTC because the histologic findings are nonspecific and nondiagnostic. Microscopic findings include dilated capillaries in the deeper dermis, swollen endothelial cells, and sometimes dilated veins, or venous lakes.

The pathophysiology of CMTC is still unclear, with most cases occurring sporadically although rare cases were reported in families. Studies indicated the primary involvement of capillaries, venules, and veins, and possibly also that of arterioles and lymphatics. Hypotheses that have been proposed include environmental/external factors; peripheral neural dysfunction; failure of the development of mesodermic vessels in an early embryonic stage.

The prognosis for CMTC is respectable. Skin lesions usually improve, especially during the patient's first 2 years of life. This phenomenon is attributed to skin maturation. M-CMTC may improve in adolescence and later life.

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.

Acknowledgment

The authors are thankful to Dr. Shailesh Choudhuri, ESIC Hospital, Indore, Madhya Pradesh, India, for referring the patient to us.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Van Lohuizen CH. Cutis marmorata telangiectatica congenita. Acta Derm Venereol (Stockh) 1922;3:202-11.  Back to cited text no. 1
    
2.
M-CM Network. Available from: . [Last accessed on 2015 Jun 04].  Back to cited text no. 2
    
3.
Gerritsen MJ, Steijlen PM, Brunner HG, Rieu P. Cutis marmorata telangiectatica congenita: Report of 18 cases. Br J Dermatol 2000;142:366-9.  Back to cited text no. 3
    
4.
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. 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
    
6.
Panigrahi I, Bhushan M, Yadav M, Khandelwal N, Singhi P. Macrocephaly-capillary malformation syndrome: Three new cases. J Neurol Sci 2012;313:178-81.  Back to cited text no. 6
    
7.
Nigwekar P, Yadav S, Shrikhande YD, Bora B. Megalencephaly-capillary malformation syndrome. Pediatr Oncall 2014;11:86-7.  Back to cited text no. 7
    
8.
Franceschini P, Licata D, Di Cara G, Guala A, Franceschini D, Genitori L. Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata? Am J Med Genet 2000;90:265-9.  Back to cited text no. 8
    
9.
Robertson SP, Gattas M, Rogers M, Adès LC. Macrocephaly – Cutis marmorata telangiectatica congenita: Report of five patients and a review of the literature. Clin Dysmorphol 2000;9:1-9.  Back to cited text no. 9
    
10.
Giuliano F, David A, Edery P, Sigaudy S, Bonneau D, Cormier-Daire V, et al. Macrocephaly-cutis marmorata telangiectatica congenita: Seven cases including two with unusual cerebral manifestations. Am J Med Genet A 2004;126A: 99-103.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2]



 

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