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Review
. 2019 Dec 4;14(1):283.
doi: 10.1186/s13023-019-1229-8.

Cutis marmorata telangiectatica congenita: a literature review

Teresa Nu Phuong Trinh Bui  1   2 , Ayse Corap  3   4 , Anette Bygum  3   4
Affiliations
Review

Cutis marmorata telangiectatica congenita: a literature review

Teresa Nu Phuong Trinh Bui et al. Orphanet J Rare Dis. .

Abstract

Background: Cutis marmorata telangiectatica congenita (CMTC) is a rare capillary malformation characterised by persistent reticulated marbled erythema. It tends to be associated with cutaneous atrophy, ulcerations and body asymmetry. CMTC is usually reported to be a benign condition; however, associated anomalies are not rare. Here, we have compiled information on published CMTC patients with the aim to evaluate the proposed diagnostic criteria by Kienast et al. and address the clinical manifestations, associated anomalies, differential diagnoses, management and prognosis. Our review is based on a search of the PubMed database which retrieved studies between 1922 and April 2019. The search yielded 148 original articles with a total of 485 patients.

Results: Of the identified patients, 24.5% had generalised CMTC, 66.8% had localised and 8.7% had a non-specified distribution of CMTC. Associated anomalies were observed in 42.5% of patients, predominantly body asymmetry and neurological defects like seizure and developmental delay. Fewer patients (10.1%) had ophthalmological defects, usually glaucoma. The major criterium "absence of venectasia" was not met in 20.4% of patients.

Conclusion: We suggest that children with CMTC should be referred to an ophthalmologist for regular follow-up, and children with CMTC affecting the legs should be monitored for leg length discrepancy throughout the growth period. Furthermore, we suggest reconsideration of the major criterium "absence of venectasia" from the proposed diagnostic criteria, and instead include body asymmetry.

Keywords: Associated anomalies; CMTC; Cutis marmorata telangiectatica congenita; Glaucoma; Leg length discrepancy; Van Lohuizen syndrome.

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Conflict of interest statement

The authors declare that they have no competing interest.

Figures

Fig. 1
Fig. 1
Flowchart illustrating the literature search for cutis marmorata telangiectatica congenita (CMTC) and the article selection process. The search was performed on April 17, 2019. M-CM, macrocephaly-capillary malformation. PPV, phacomatosis pigmentovascularis
Fig. 2
Fig. 2
Distribution of glaucoma in patients with cutis marmorata telangiectatica congenita (CMTC)
Fig. 3
Fig. 3
Distribution of leg length discrepancy in patients with cutis marmorata telangiectatica congenita (CMTC)
Fig. 4
Fig. 4
Management of patients with cutis marmorata telangiectatica congenita (CMTC)
See this image and copyright information in PMC

References

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Supplementary concepts