Vascular malformations in children: a rare case of vascular nevus and its clinical features

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.