Cutis Marmorata Telangiectatica Congenita: An Atypical Clinical Presentation of Vascular Anomalies

Authors

  • Inès El Fekih Department of Dermatology and Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), APHP, Paris University, NeckerEnfants Malades Hospital, Paris Centre University, Imagine Institute, Paris, France
  • Sylvie Fraitag Department of Pathology, Paris Centre University, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, APHP, Paris, France
  • Paul Kuentz Université Marie et Louis Pasteur, CHU Besançon, FHU TRANSLAD, Oncobiologie Génétique Bioinformatique, F-25000 Besançon, France; Université Bourgogne Europe, INSERM, CTM UMR 1231, Equipe GAD, F-21000 Dijon, France
  • Amélie Carbonelle-Puscian Cypath Pathology Laboratory, Dermapath Network, Villeurbanne, France
  • Olivia Boccara Department of Dermatology and Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), APHP, Paris University, NeckerEnfants Malades Hospital, Paris Centre University, Imagine Institute, Paris, France

DOI:

https://doi.org/10.2340/actadv.v106.adv-2026-0613

Keywords:

vascular malformation, mosaic disorder, cutis marmorata telangiectatica congenita, infantile hemangioma, verrucous hemangioma

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References

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: 820–828. DOI: https://doi.org/10.1111/pde.15377

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: 287–293. DOI: https://doi.org/10.1001/archdermatol.2008.545

Jordan M, Carmignac V, Sorlin A, Kuentz P, Albuisson J, Borradori L, et al. Reverse phenotyping in patients with skin capillary malformations and mosaic GNAQ or GNA11 mutations defines a clinical spectrum with genotype-phenotype correlation. J Invest Dermatol 2020; 140: 1106–1110. DOI: https://doi.org/10.1016/j.jid.2019.08.455

Dudoignon B, Huber C, Michot C, Di Rocco F, Girard M, Lyonnet S, et al. Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype. Am J Med Genet A 2020; 182: 29–37. DOI: https://doi.org/10.1002/ajmg.a.61364

Metry D, Copp HL, Rialon KL, Iacobas I, Baselga E, Dobyns WB, et al. Delphi consensus on diagnostic criteria for lumbar syndrome. J Pediatr 2024; 272: 114101. DOI: https://doi.org/10.1016/j.jpeds.2024.114101

Fujita M, Darmstadt GL, Dinulos JG. Cutis marmorata telangiectatica congenita with hemangiomatous histopathologic features. J Am Acad Dermatol 2003; 48: 950–954. DOI: https://doi.org/10.1067/mjd.2003.301

Atzmony L, Ugwu N, Hamilton C, Paller AS, Zech L, Antaya RJ, et al. Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders. Pediatr Dermatol 2022; 39: 903–907. DOI: https://doi.org/10.1111/pde.15094

Published

2026-05-12

How to Cite

El Fekih, I., Fraitag, S., Kuentz, P., Carbonelle-Puscian, A., & Boccara, O. (2026). Cutis Marmorata Telangiectatica Congenita: An Atypical Clinical Presentation of Vascular Anomalies. Acta Dermato-Venereologica, 106, adv–2026. https://doi.org/10.2340/actadv.v106.adv-2026-0613

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