Congenital telangiectatic cutis marmorata: a case report

Authors

Keywords:

Congenital Cutis Marmorata Telangiectatica; Vascular Malformation; Newborn; Differential Diagnosis; Van Lohuizen Syndrome

Abstract

Introduction: Congenital cutis marmorata telangiectatica (CMTC) is a rare capillary vascular malformation of unknown etiology that predominantly affects females. It is characterized by reticulated, violaceous skin lesions that blanch upon pressure and do not improve with local warming. Although usually benign, it can be associated with extracutaneous anomalies in a significant percentage of cases.

Objective: To present a case of CMTC in a newborn with early resolution of lesions and a favorable outcome, highlighting the importance of differential diagnosis and multidisciplinary evaluation.

Case presentation: A female newborn delivered vaginally at 38.2 weeks, weighing 3200 g, with Apgar scores of 9/9. At birth, she presented with multiple erythematous-violaceous macules in an asymmetric, reticulated pattern on the lower limbs. The Kienast and Hoeger criteria were met. Complementary tests—including echocardiogram, fundus examination, and chest X-ray—were normal. Multidisciplinary evaluation ruled out extracutaneous anomalies. No specific treatment was administered. At three months of age, the lesions had resolved, and psychomotor development was normal.

Conclusions: CMTC is a condition with a good prognosis that requires early diagnosis and multidisciplinary follow-up to rule out systemic involvement. Complete resolution of the lesions can occur within the first few months of life, as demonstrated in this case. Distinguishing it from other vascular malformations with a poorer prognosis is essential.

Downloads

Download data is not yet available.

References

1. Moreno-Alfonso JC, Molina Caballero Z, Pérez Martínez E. Asociaciones infrecuentes de la cutis marmorata telangiectásica congénita: reporte de dos casos. Cir Pediatr. 2024;37:33-36. doi: 10.54847/cp.2024.01.12

2. Portal Buenaga M, Naharro Fernández C, Gómez Dermit V, De las Cuevas Terán MI. Recién nacido con cutis marmorata telangiectásica congénita. An Pediatr (Barc). 2022;97(6):433-434. doi: 10.1016/j.anpedi.2022.02.001

3. International Society for the Study of Vascular Anomalies. ISSVA Classification of Vascular Anomalies. [Internet] 2025 [citado 11/07/2026]. Disponible en: https://www.issva.org/classification

4. Bui TNPT, Corap A, Bygum A. Cutis marmorata telangiectatica congenita: a literature review. Orphanet J Rare Dis. 2019;14(1):283. doi: 10.1186/s13023-019-1229-8

5. Downey C, Metry D, Garzon MC, Morales LK, Baselga E. Cutis marmorata telangiectatica congenita: Incidence of extracutaneous manifestations and a proposed clinical definition. Pediatr Dermatol. 2023;40(5):820-828. doi: 10.1111/pde.15377

6. Schuart C, Bassi A, Kapp F, Wieland I, Pagliazzi A, Losch H, et al. Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations. Eur J Med Genet. 2022;65(5):104472. doi: 10.1016/j.ejmg.2022.104472

7. Ghotbabadi SH, Barzegar H, Abdolvand M. Generalized cutis marmorata telangiectatica congenita or neonatal lupus? A case report and literature review. Clin Case Rep. 2024;12(5):e8898. doi: 10.1002/ccr3.8898

8. Kamińska M, Szular K, Schreiber-Zamora J, Gutowska-Malina K, Stanojević M, Kociszewska-Najman B. Newborn with cutis marmorata telangiectatica congenita: a case report and review of the literature. Pediatr Pol. 2025;100(3):276-280. doi: 10.5114/polp.2025.154298

9. Kienast AK, Hoeger PH. Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria. Clin Exp Dermatol. 2009;34(3):319-323. doi: 10.1111/j.1365-2230.2008.03074.x

10. Boia M, Popescu DE, Jura AMC, Belengeanu V, Lungu N, Manea AM, et al. Cutis Marmorata Telangiectatica Congenita: Case Series and Literature Review. Diagnostics (Basel). 2025;15(16):2043. doi: 10.3390/diagnostics15162043

11. Manna S. A Rare Case of Vascular Malformation in India: Cutis Marmorata Telangiectatica Congenita. Cureus. 2024;16(7):e64408. doi: 10.7759/cureus.64408

12. Yorulmaz A, Hayran Y, Aktas A. Cutis marmorata telangiectatica congenita. Our Dermatol Online. 2021;12(e):e35. doi: 10.7241/ourd.2021e.35

13. Elitt MS, Tamburro JE, Moran RT, Traboulsi E. Cutis marmorata telangiectatica congenita: a focus on its diagnosis, ophthalmic anomalies, and possible etiologic factors. Ophthalmic Genet. 2020;41(2):101-107. doi: 10.1080/13816810.2020.1744018

14. Hokazono K, Urzedo ABDL, Dias PB, Dias NAL. Retinal abnormalities in a patient with cutis marmorata telangiectatica congenita. BMJ Case Rep. 2024;17(5):e257810. doi: 10.1136/bcr-2023-257810

15. Tamburro J, Traboulsi E, Patel MS. Isolated and Classic Cutis Marmorata Telangiectatica Congenita. In: GeneReviews [Internet]. Seattle: University of Washington; 2022 [citado 11/07/2026]. Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK581081/

16. Wollina U, França K, Lotti T, Tchernev G. Van Lohuizen Syndrome – A Case Report with a Diagnostic Delay of Four Years. Open Access Maced J Med Sci. 2018;6(1):74-75. doi: 10.3889/oamjms.2018.024

17. Maluf Esselin M, Prazeres da Silva A. Cutis Marmorata Telangiectásica Congénita em RN do sexo feminino. Residência Pediátrica. [Internet] 2017 [citado 11/07/2026];7(1):36-38. Disponible en: https://residenciapediatrica.com.br/detalhes/255/cutis-marmorata-telangiectasica-congenita-em-rn-do-sexo-feminino

Published

2026-09-25

How to Cite

1.
Bermúdez-Sañudo D, Sabido-Toledo L, Delgado-Bermúdez D, Delgado-Bermúdez D. Congenital telangiectatic cutis marmorata: a case report. MedEst [Internet]. 2026 Sep. 25 [cited 2026 Oct. 15];6:e582. Available from: https://revmedest.sld.cu/index.php/medest/article/view/582

Issue

Section

CASE PRESENTATION