Vascular malformations in children: a rare case of vascular nevus and its clinical features
DOI:
https://doi.org/10.15574/SP.2025.4(148).153159Keywords:
vascular malformations, vascular nevus, capillary malformations, phakomatoses, genetic analysis, limb asymmetryAbstract
Vascular malformations in children encompass a diverse spectrum of congenital anomalies, often presenting at birth or in early childhood. Among these, vascular nevi (port-wine stains, or nevus flammeus) represent congenital capillary malformations that may lead to significant cosmetic and functional impairments.
Aim: to identify the main clinical and genetic features of a rare case of vascular nevus in a child and to determine the diagnostic criteria that allow timely differentiation of this pathology from other vascular malformations.
Clinical case. This study presents a retrospective analysis of a clinical case of vascular nevus in a 6-year-old girl. The patient exhibited congenital vascular pigmentation and progressive limb asymmetry. The patient presented with an extensive capillary malformation affecting the lumbar region, thigh, lower leg, and foot, associated with hypertrophy of the affected limb. X-ray examination confirmed a 2 cm anatomical lengthening of the right tibia with preserved growth plate function. Clinical features raised suspicion of phakomatosis, necessitating differential diagnosis with such conditions as Klippel-Trenaunay-Weber syndrome, Sturge-Weber syndrome, neurofibromatosis, and tuberous sclerosis. Genetic testing did not reveal pathogenic mutations commonly associated with phakomatoses, supporting the final diagnosis of an isolated vascular nevus with musculoskeletal involvement. The patient was prescribed a multidisciplinary treatment plan, including orthotic correction, physical therapy, and postural monitoring to prevent scoliosis progression.
Conclusions. Vascular malformations, particularly large vascular nevi, can induce disproportionate musculoskeletal growth, mimicking syndromic phakomatoses. The case highlights the necessity of integrating clinical, radiological, and genetic evaluations to ensure accurate diagnosis and tailored management. The findings emphasize the importance of long-term monitoring in children with complex vascular anomalies to optimize functional outcomes and prevent secondary orthopedic complications.
The study was carried out in accordance with the principles of the Declaration of Helsinki. The informed consent of the children's parents was obtained for the research.
No conflict of interests was declared by the authors.
References
Chiu JJ, Chien S. (2011). Effects of disturbed flow on vascular endothelium: pathophysiological basis and clinical perspectives. Physiol Rev. 91(1): 327-387. https://doi.org/10.1152/physrev.00047.2009; PMid:21248169 PMCid:PMC3844671
Dallos G, Chmel R, Alföldy F, Török S, Telkes G, Diczházi C et al. (2006). Bourneville-Pringle disease for kidney transplantation: a single-center experience. Transplant Proc. 38(9): 2823-2824. https://doi.org/10.1016/j.transproceed.2006.08.121; PMid:17112839
Diociaiuti A, Paolantonio G, Zama M, Alaggio R, Carnevale C, Conforti A et al. (2021). Vascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies. Front Pediatr. 9: 730393. https://doi.org/10.3389/fped.2021.730393; PMid:34692608 PMCid:PMC8529251
Dorairaj S, Ritch R. (2012). Encephalotrigeminal Angiomatosis (Sturge-Weber Syndrome, Klippel-Trenaunay-Weber Syndrome): A Review. Asia Pac J Ophthalmol (Phila). 1(4): 226-34. https://doi.org/10.1097/APO.0b013e31826080a9; PMid:26107478
El Aoud S, Frikha F, Snoussi M, Salah RB, Bahloul Z. (2017). Tuberous sclerosis complex (Bourneville-Pringle disease) in a 25-year- old female with bilateral renal angiomyolipoma and secondary hypertension. Saudi J Kidney Dis Transpl. 28(3): 633-638. https://doi.org/10.4103/1319-2442.206461; PMid:28540905
Evans LL, Hill LRS, Kulungowski AM. (2025). Neonatal Cutaneous Vascular Anomalies. Neoreviews. 26(1): e12-e27. https://doi.org/10.1542/neo.26-1-002; PMid:39740173
Fraitag S, Boccara O. (2021). What to Look Out for in a Newborn with Multiple Papulonodular Skin Lesions at Birth. Dermatopathology (Basel). 8(3): 390-417. https://doi.org/10.3390/dermatopathology8030043; PMid:34449594 PMCid:PMC8395860
Ghalayani P, Saberi Z, Sardari F. (2012). Neurofibromatosis type I (von Recklinghausen's disease): A family case report and literature review. Dent Res J (Isfahan). 9(4): 483-488.
Gupta R, Bhandari A, Navarro OM. (2023). Pediatric Vascular Anomalies: A Clinical and Radiological Perspective. Indian J Radiol Imaging. 34(1): 103-127. https://doi.org/10.1055/s-0043-1774391; PMid:38106867 PMCid:PMC10723972
Happle R. (2015). Capillary malformations: a classification using specific names for specific skin disorders. J Eur Acad Dermatol Venereol. 29(12): 2295-305. https://doi.org/10.1111/jdv.13147; PMid:25864701
Holm A, Mulliken JB, Bischoff J. (2024). Infantile hemangioma: the common and enigmatic vascular tumor. J Clin Invest. 134(8): e172836. https://doi.org/10.1172/JCI172836; PMid:38618963 PMCid:PMC11014660
Jung HL. (2021). Update on infantile hemangioma. Clin Exp Pediatr. 64(11): 559-572. https://doi.org/10.3345/cep.2020.02061; PMid:34044479 PMCid:PMC8566803
Kunimoto K, Yamamoto Y, Jinnin M. (2022). ISSVA Classification of Vascular Anomalies and Molecular Biology. Int J Mol Sci. 23(4): 2358. https://doi.org/10.3390/ijms23042358; PMid:35216474 PMCid:PMC8876303
Man A, Di Scipio M, Grewal S, Suk Y, Trinari E et al. (2024). The genetics of tuberous sclerosis complex and related mTORopathies: current understanding and future directions. Genes. 15(3): 332. https://doi.org/10.3390/genes15030332; PMid:38540392 PMCid:PMC10970281
Mittal A, Anand R, Gauba R, Choudhury SR, Abbey P. (2021). A Step-by-Step Sonographic Approach to Vascular Anomalies in the Pediatric Population: A Pictorial Essay. Indian J Radiol Imaging. 31(1): 157-171. https://doi.org/10.1055/s-0041-1729486
Mochulska OM. (2020). External therapy of allergic dermatoses in children (literature review). Ukrainian Journal of Perinatology and Pediatrics. 4(84): 41-47. https://doi.org/10.15574/PP.2020.84.41
Mofarrah R, Mofarrah R, Gooranorimi P, Emadi S, Aski SG. (2024). KTWS (Klippel-Trenaunay-Weber syndrome): A systematic presentation of a rare disease. J Cosmet Dermatol. 23(6): 2215-2219. https://doi.org/10.1111/jocd.16247; PMid:38389293
Nykytiuk SO, Demborynska NM, Kmita IV. (2019). Stevens-Johnson syndrome in an adolescent: diagnosis and treatment (clinical case). Child's Health. 14(1): 36-39. https://doi.org/10.22141/2224-0551.14.1.2019.157877
Paradiso MM, Shah SD, Fernandez Faith E. (2024). Infantile Hemangiomas and Vascular Anomalies. Pediatr Ann. 53(4): e129-e137. https://doi.org/10.3928/19382359-20240205-04; PMid:38574074
Patil S, Chamberlain RS. (2012). Neoplasms associated with germline and somatic NF1 gene mutations. Oncologist. 17(1): 101-116. https://doi.org/10.1634/theoncologist.2010-0181; PMid:22240541 PMCid:PMC3267808
Philpott C, Tovell H, Frayling IM, Cooper DN, Upadhyaya M. (2017). The NF1 somatic mutational landscape in sporadic human cancers. Hum Genomics. 11(1): 13. https://doi.org/10.1186/s40246-017-0109-3; PMid:28637487 PMCid:PMC5480124
Poswal P, Bhutani N, Arora S, Kumar R. (2020). Plexiform neurofibroma with neurofibromatosis type I/ von Recklinghausen's disease: A rare case report. Ann Med Surg (Lond). 1457: 346-350. https://doi.org/10.1016/j.amsu.2020.08.015; PMid:32913647 PMCid:PMC7473834
Protsailo MD, Dzhyvak VH, Horishniy IM, Hariyan TV, Kucher SV, Prodan AM. (2024). Orthopedic manifestations of degenerative melanosis (clinical case report). Health of Man. 2: 45-48. https://doi.org/10.30841/2786-7323.2.2024.310019
Protsailo MD, Fedortsiv OY, Dzhyvak VG, Krycky IO, Hoshchynskyi PV, Horishnyi IM et al. (2023). Clinical features of connective tissue dysplasia, osgood-schlatter disease and multiple cortical disorders in a child. Wiad Lek. 76(8): 1854-1860. https://doi.org/10.36740/WLek202308120; PMid:37740981
Protsailo M, Dzhyvak V, Krycky I, Fedorciv O, Horishniy I, Levenets S. (2024). A rare case of Klippel-Trenaunay-Weber syndrome in a child. Med Today Tomorrow. 93(2): 84-96. https://doi.org/10.35339/msz.2024.93.2.pdk
R IJM, Arumugam Venkatachalam Sargurunathan E, Gowda Venkatesha RR, Rajaram Mohan K, Fenn SM. (2024). Port-Wine Stains and Intraoral Hemangiomas: A Case Series. Cureus. 16(6): e63532. https://doi.org/10.7759/cureus.63532
Sánchez-Espino LF, Ivars M, Antoñanzas J, Baselga E. (2023, Apr 24). Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache. Appl Clin Genet. 16: 63-81. doi: 10.2147/TACG.S363685. Erratum in: Appl Clin Genet. 2024; 17: 131-132. https://doi.org/10.2147/TACG.S487419; PMid:39157042 PMCid:PMC11328840
Satam H, Joshi K, Mangrolia U, Waghoo S, Zaidi G, Rawool S et al. (2023, Jul 13). Next-Generation Sequencing Technology: Current Trends and Advancements. Biology (Basel). 12(7): 997. doi: 10.3390/biology12070997. Erratum in: Biology (Basel). 2024; 13(5): 286. https://doi.org/10.3390/biology13050286; PMid:38785841 PMCid:PMC11107263
Sofoudis C, Kalampokas T, Boutas I, Kalampokas E, Salakos N. (2014). Morbus Bourneville: a case report and review of the literature. Clin Exp Obstet Gynecol. 41(1): 95-7. https://doi.org/10.12891/ceog15862014; PMid:24707696
Uysal SP, Şahin M. (2020, Nov 3). Tuberous sclerosis: a review of the past, present, and future. Turk J Med Sci. 50(SI-2): 1665-1676. https://doi.org/10.3906/sag-2002-133; PMid:32222129 PMCid:PMC7672342
Vaghani UP, Qadree AK, Mehta S, Chaudhary NS, Sharma K, Chaudhary SM et al. (2023). Bloch-Sulzberger Syndrome: A Rare X-Linked Dominant Genetic Disorder in a Newborn. Cureus. 15(11): e48823. https://doi.org/10.7759/cureus.48823
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