Periosteal new bone formation in Klippel-Trénaunay syndrome: a case report

Abstract

Background: Klippel-Trénaunay syndrome (KTS) is a complex congenital vascular disorder, typically accompanied by port-wine stains, varicose veins, and limb hypertrophy. This paper reports a rare and unusual clinical condition of periosteal reaction in a pediatric case of KTS. Although periosteal new bone formation is not rare in children, as is KTS, their dual occurrence or the presentation of the former due to KTS has not been previously documented. Our objective in this study is to highlight the potential association between periosteal new bone formation and KTS, as well as to help physicians consider this association when bone neoplasm has been ruled out. Case presentation: A 7-year old girl, initially presented with a persistent mild swelling in her left shank, with no abnormalities in the X-ray of the tibiofibular. However, after a few consults and examinations, 7 weeks later, a 17 cm-long periosteal new bone formation along the left tibia and diffused dilated vessels in the left shank were revealed by the radiological examination. Not knowing the true nature of the fast-growing lesion in a typical case of KTS was worrying. Therefore, a core needle biopsy was performed. The test demonstrated a possible parosteal hemangioma. Following further investigation through an excisional biopsy, and a pathological analysis, hyperplasia of the bone tissues with no tumor cells was revealed. Thereafter, an elastic stocking treatment was prescribed. During the first two-year follow-up, recurrence of the mass or sign of progression of KTS was not observed. Conclusions: Periosteal new bone formation is a potential manifestation of KTS. Based on the conclusive pathological results of the excisional biopsy, invasive examinations and surgeries could be avoided in future KTSsubperiosteal lesion manifestations.

Diversity and frequency of symptoms in Klippel–Trénaunay syndrome

“…All 3 KTS symptoms are not usually observable in all patients; for example, the triad can be present in 63% of the studied pool, while the remaining 37% presented only 2 of 3 symptoms [9]. Diagnosed Klippel-Trénaunay syndrome does not exclude the patients from the risk of developing other rare ailments, described in singular instances, such as: -newly-developed periosteal bone formation, potentially linked to KTS [15]; -broad, numerous lymphatic haemangiomas of underscribed relation to KTS, based on the uniqueness of the case [11]; -osseous haemangioma that developed in patient's frontal bone, affecting the superior agittal sinus, which is an uncommon and probably the only published instance of a patient with a cranial location of haemangioma in a KTS patient [20]; -a case of a giant uterus weighing 6.3 kgs, with leiomyomatosis and diffuse vascular malformations [21].…”

“…Also, while instances of rare ailments present in KTS patients are described, they remain isolated cases and are not part of a typical picture of patients affected by this syndrome. [11,15,20,21].…”