Combined capillary-venous-lymphatic malformations without overgrowth in patients with Klippel-Trénaunay syndrome

Brandigi, E.; Torino, Giovanni; Messina, Mario; Molinaro, Francesco; Mazzei, Oscar; Matucci, Tommaso; Gutiérrez, Juan Carlos López

doi:10.1016/j.jvsv.2017.09.011

Cited by 10 publications

(7 citation statements)

References 20 publications

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“…The ISSVA classification also lists other vascular anomalies associated with PIK3CA variants, including CLAPO syndrome, common VM and FAVA. Therefore, there is a significant overlap in clinical and imaging features among all PIK3CA ‐associated vascular anomaly conditions, from simple isolated lymphatic malformations to complex FAVA lesions and the complex overgrowth syndromes KTS and CLOVES 15–17 . KTS manifestations include diffuse capillary malformations of the involved limb, disproportionate soft‐tissue overgrowth, low‐flow venous malformations and diffuse microcystic and macrocystic lymphatic malformations.…”

Section: Discussionmentioning

confidence: 99%

“…Therefore, there is a significant overlap in clinical and imaging features among all PIK3CA-associated vascular anomaly conditions, from simple isolated lymphatic malformations to complex FAVA lesions and the complex overgrowth syndromes KTS and CLOVES. [15][16][17] KTS manifestations include diffuse capillary malformations of the involved limb, disproportionate soft-tissue overgrowth, low-flow venous malformations and diffuse microcystic and macrocystic lymphatic malformations. Pure microcystic lymphatic malformations associated with phlebectasia can be confused with FAVA.…”

Section: Discussionmentioning

confidence: 99%

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Fibroadipose vascular anomaly: a clinicopathological study of 75 cases

et al. 2023

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Fibroadipose vascular anomaly: a clinicopathological study of 75 cases

et al. 2023

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“…Prominent superficial veins and soft‐tissue undergrowth are also described in some CMTC patients 12 . Even though soft‐tissue and bone overgrowth is most commonly described in KTS, some cases with soft‐tissue and bony undergrowth have been reported and denominated as inverse KTS 8,11,14‐17 . Inverse KTS presents with characteristic geographic CMs.…”

Section: Discussionmentioning

confidence: 99%

Clinical and genetic evaluation of six children with diffuse capillary malformation and undergrowth

Cubiró

Rozas‐Muñoz

Castel

et al. 2020

Pediatric Dermatology

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Background: Diffuse capillary malformation with overgrowth (DCMO) has been well described. However, capillary malformation with undergrowth (CMU) has been less reported in the literature. Objectives: We sought to describe the clinical features and determine associated somatic mutations in patients with CMU. Methods: We searched our multidisciplinary vascular anomalies clinic database for patients with CMU. Girth and length limb measurements were performed. In case of discrepancies in length, long leg radiograph studies were obtained. Whole-exome sequencing of blood and involved tissue DNA was carried out. Results: We included six patients with CM and soft-tissue and bone undergrowth. CMs were patchy, reticulated, segmental, poorly demarcated, pink-red stains affecting the lower limb (five patients) or the whole hemibody (one patient). In five patients, the stain was diffuse, affecting more than one anatomic region. Prominent superficial veins were observed in three patients. Five patients presented with lower limb girth discrepancy; in three of them, there was also lower limb length discrepancy. In the remaining patient, only lower limb length discrepancy was found. Whole-exome sequencing from DNA tissue/blood detected previously described pathogenic somatic mutations on DDR2 (c.314G > A; p.Arg105His), GRHL2 (c.791A > G; p.Glu264Gly), and PIK3CA (c.2740G > A; p.Gly914Arg) genes. Conclusion: We propose the term "diffuse capillary malformation with undergrowth" for extensive reticular CMs associated with proportionate undergrowth. All our patients had a favorable outcome, and no genotype-phenotype association was found.

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“…77 Clinically, KTS is characterized by bone and soft tissue hypertrophy of one or more limbs and capillary, venous, and often LMs. 2,77,78 Although vascular malformations associated with KTS typically involve the affected limb, additional malformations of the central nervous system have been described, including low-flow vascular malformations such as cavernous malformations. 79 Others.…”

Section: Syndromes With Low-flow Vascular Malformationsmentioning

confidence: 99%

Imaging of benign cervicofacial vascular anomalies and associated syndromes

et al. 2021

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Cervicofacial vascular anomalies can result in morbidity, pain, and cosmetic concerns in affected individuals. Each anomaly has its own unique natural history, treatment, and associations with underlying genetic syndromes. For optimal patient care, it is important for the neuroradiologist to accurately recognize and characterize these entities to ensure appropriate treatment and management. In this review, we discuss the general characteristics, classifications, and imaging features associated with the most common vascular anomalies such as hemangiomas, arteriovenous malformations and fistulas, capillary malformations, venous malformations, and lymphatic malformations in the context of associated syndromes. Additionally, we discuss novel imaging techniques that aid in identifying these vascular anomalies.

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Combined capillary-venous-lymphatic malformations without overgrowth in patients with Klippel-Trénaunay syndrome

Cited by 10 publications

References 20 publications

Fibroadipose vascular anomaly: a clinicopathological study of 75 cases

Fibroadipose vascular anomaly: a clinicopathological study of 75 cases

Clinical and genetic evaluation of six children with diffuse capillary malformation and undergrowth

Imaging of benign cervicofacial vascular anomalies and associated syndromes

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