Spontaneous Regression of a Verrucous Venous Malformation Associated with a Previously Undescribed MAP3K3 Variant

Authors

  • Andrea Diociaiuti Dermatology Unit and Genodermatosis Research Unit, Translational Paediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
  • Emanuele Bellacchio Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
  • Claudia Cesario Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
  • Sabrina Rossi Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
  • Giovanna Zambruno Dermatology Unit and Genodermatosis Research Unit, Translational Paediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
  • May El Hachem Dermatology Unit and Genodermatosis Research Unit, Translational Paediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy

DOI:

https://doi.org/10.2340/actadv.v105.44095

Keywords:

verrucous venous malformation, MAP3K3, involution, vascular malformation

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References

Imperial R, Helwig EB. Verrucous hemangioma: a clinico-pathologic study of 21 cases. Arch Dermatol 1967; 96: 247–253. DOI: https://doi.org/10.1001/archderm.1967.01610030025004

Tennant LB, Mulliken JB, Perez-Atayde AR, Kozakewich HP. Verrucous hemangioma revisited. Pediatr Dermatol 2006; 23: 208–215. DOI: https://doi.org/10.1111/j.1525-1470.2006.00219.x

Colmenero I, Knöpfel N. Venous malformations in childhood: clinical, histopathological and genetics update. Dermato-pathology (Basel) 2021; 8: 477–493. DOI: https://doi.org/10.3390/dermatopathology8040050

Wang L, Gao T, Wang G. Verrucous hemangioma: a clinicopathological and immunohistochemical analysis of 74 cases. J Cutan Pathol 2014; 41: 823–830. DOI: https://doi.org/10.1111/cup.12385

Couto JA, Vivero MP, Kozakewich HP, Taghinia AH, MullikenJB, Warman ML, et al. A somatic MAP3K3 mutation is associated with verrucous venous malformation. Am J Hum Genet 2015; 96: 480–486. DOI: https://doi.org/10.1016/j.ajhg.2015.01.007

Diociaiuti A, Rotunno R, Pisaneschi E, Cesario C, Carnevale C, Condorelli AG, et al. Clinical and molecular spectrum of sporadic vascular malformations: a single-center study. Biomedicines 2022; 10: 1460. DOI: https://doi.org/10.3390/biomedicines10061460

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Fisher OS, Deng H, Liu D, Zhang Y, Wei R, Deng Y, et al. Structure and vascular function of MEKK3-cerebral cavernous malformations 2 complex. Nat Commun 2015; 6: 7937. DOI: https://doi.org/10.1038/ncomms8937

Zhou Z, Tang AT, Wong WY, Bamezai S, Goddard LM, Shenkar R, et al. Cerebral cavernous malformations arise from endothelial gain of MEKK3-KLF2/4 signalling. Nature 2016; 532: 122–126. DOI: https://doi.org/10.1038/nature17178

Zhou Z, Rawnsley DR, Goddard LM, Pan W, Cao XJ, Jakus Z, et al. The cerebral cavernous malformation pathway controls cardiac development via regulation of endocardial MEKK3 signaling and KLF expression. Dev Cell 2015; 32: 168–180. DOI: https://doi.org/10.1016/j.devcel.2014.12.009

Xu H, Yang Y, Zhou Q, Huo R, Zhao S, Sun Y, et al. Map3k3 I441M knock-in mouse model of cerebral cavernous malformations. Stroke 2025; 56: 1010–1025. DOI: https://doi.org/10.1161/STROKEAHA.124.049935

Additional Files

Published

2025-10-06

How to Cite

Diociaiuti, A., Bellacchio, E., Cesario, C., Rossi, S., Zambruno, G., & El Hachem, M. (2025). Spontaneous Regression of a Verrucous Venous Malformation Associated with a Previously Undescribed MAP3K3 Variant. Acta Dermato-Venereologica, 105, adv44095. https://doi.org/10.2340/actadv.v105.44095

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