Macrocephaly-cutis marmorata telangiectatica congenita

ARTICLE

Auteur(s) : Lorea Bagazgoitia, Pablo Boixeda, Ainhoa Marquet, Pedro Jaén

Dermatology department. Hospital Ramón y Cajal. Madrid. Universidad de Alcalá de Henares. Carretera de Colmenar, km 9,1, 28034 Madrid, Spain

We present a male infant, the first child of non-related Spanish parents. His father was healthy and his 35-year-old mother had previously had two spontaneous abortions. During pregnancy she was studied for severe hydramnios. Macrosomy was diagnosed before birth. Birth weight was 4050g (75^th-90^th centile), birth length 50cm (50^th-90^th centile) and occipitofrontal circumference (OFC) 38 cm (> 99^th centile).

Clinical examination at birth showed a generalized purple-red network, which did not involve the lower part of the trunk and lower left limb. The right limb was slightly hypertrophic. He also showed a facial bilateral capillary malformation involving the philtrum. Moreover, frontal bossing associated with macrocephaly was noted, there was no syndactyly nor hypotonia. The cerebral ultrasound revealed bilateral and 3^rd ventricle dilation. The echocardiogram was normal, yet he had glaucoma. The patient was diagnosed with macrocepahly-cutis marmorata telangiectatica congenita (M-CMTC) (figure 1).

At the age of 2, the skin lesions remained and no neurological symptoms had appeared.

The M-CMTC syndrome was written about at approximately the same time by Moore et al. [1] and Clayton-Smith J et al. [2] They observed a total of 22 patients who showed some clinical manifestations associated with worse prognoses than those with cutis marmorata telangiectatica congenial (CMTC) alone. CMTC can coexist with several skin lesions and malformations [3]. Despite the fact that the association between macrocephaly and CMTC is well known, the patients studied by Clayton-Smith and Moore not only showed a similar phenotype (macrocephaly, CMTC, syndactily, asymmetry-hemihypertrophy, hyperlaxity, capillary malformation of philtrum), but also suffered from a higher number of neurological complications. These incorporated hypotonia, hydrocephalus and mental retardation. More recently, several new cases have been reported, and therefore the syndrome is now well defined. Robertson et al. [4] proposed major and minor diagnostic criteria based on the cases already described in the literature and on five of their own patients. They suggested: the presence of macrocephaly and cutis marmorata associated with at least four of the following findings: neonatal hypotonia, developmental delay, connective tissue defect, frontal bossing, midline facial nevus flammeus, syndactyly, segmental overgrowth and hydrocephalus. Similarly, Franceschini et al. [5] described two cases, one of which lacked cutis marmorata. They therefore proposed other criteria, which were less strict, the existence of macrocephaly and at least two of the following: overgrowth, cutis marmorata, angiomata, syndactyly or asymmetry. Recently a new terminology has been suggested (Macrocephaly-Capillary malformation, M-CM) because the CM-like lesions in these patients do not coincide clinically with the evolution of CM nor CMTC. They are a type of capillary malformation [6].

The case reported fulfils both Franschesini’s [5] and Robertson’s [4] criteria. The absence of syndactily does not exclude the diagnosis, because it is reported in 25-75% of the cases in the literature [7]. However, as the purple-red network on the limbs has not disappeared, this case could be called M-CM. M-CMTC is a syndrome for which early diagnosis is important in order to monitor the known complications, especially the neurological ones. The most frequent one is developmental delay, followed by hypotonia, which improves with time, and hydrocephalus.

The cause of M-CMTC remains unknown. All the cases described are sporadic and there seems to be a slight preponderance in males. Clayton et al. [2] and Moore et al. [1] proposed that this syndrome could be caused by a new dominant mutation in a single gene or a deletion of multiple contiguous genes. In this case of a two-month-old male who presented CMTC associated to right lower limb hypertrophy, macrocephaly and a capillary malformation involving the philtrum, the cause of M-CMTC remains unknown. Early diagnosis is vital in order to monitor complications, especially neurologic ones.

Acknowledgments

References

2 Clayton-Smith J, Kerr B, Brunner H, et al. Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome. Clin Dysmorphol 1997; 6: 291-302.

3 Boente MC, Obeid R, Asial RA, Bibas-Bonet H, Coronel AM, Happle R. Cutis tricolor coexistent with cutis marmorata telangiectatica congenita: "phacomatosis achromico-melano-marmorata". Eur J Dermatol 2008; 18: 394-6.

4 Robertson SP, Gattas M, Rogers M, Ades LC. Macrocephaly--cutis marmorata telangiectatica congenita: report of five patients and a review of the literature. Clin Dysmorphol 2000; 9: 1-9.

5 Franceschini P, Licata D, Di CG, Guala A, Franceschini D, Genitori L. Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata? Am J Med Genet 2000; 90: 265-9.

6 Toriello HV, Mulliken JB. Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM). Am J Med Genet A 2007; 143A: 3009.

7 Katugampola R, Moss C, Mills C. Macrocephaly-cutis marmorata telangiectatica congenita: A case report and review of salient features. J Am Acad Dermatol 2008; 58: 697-702.