Prophylactic anticoagulation of individuals with Proteus syndrome and <scp>COVID</scp>‐19

Ours, Christopher; Biesecker, Leslie G.

doi:10.1002/ajmg.a.61861

Cited by 1 publication

(1 citation statement)

References 16 publications

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“…It is well known that patients with Proteus syndrome have an increased risk for deep vein thrombosis (DVT) and pulmonary embolism (PE); other researchers have argued that endothelial abnormalities, platelet dysfunction, and stasis associated with vascular malformations cause adverse effects on hemostasis [15]. However, prophylactic anticoagulation is not recommended due to the risk of life-threatening hemorrhage, especially in children, for minor trauma [16]. Only patients tested positive for DVT and PE on imaging should undergo acute anticoagulation [15].…”

Section: Discussionmentioning

confidence: 99%

Esthetic and Functional Improvement of Asymmetric Lower Limb Overgrowth in a Proteus Syndrome Patient: a Combined Surgical Technique

et al. 2021

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Proteus syndrome is a rare, sporadic, congenital syndrome that causes asymmetric and disproportionate overgrowth of limbs, connective tissue nevi, epidermal nevi, alteration of adipose tissue, and vascular malformations. Genetic mosaicism, such as activating mutations involving protein kinase AKT1, phosphoinositide 3 kinase (PI3-K), and phosphatase and tensin homolog (PTEN), may be important causes of Proteus syndrome. However, many patients have no evidence of mutations in these genes. Currently, the diagnosis is clinical and based on phenotypic features. This article reports a case of Proteus syndrome in a 14-year-old female patient who presented with linear epidermal nevi, viscera anomalies, and adipose tissue dysregulation. She showed an asymmetric progressive overgrowth of the right lower limb after birth bringing relevant functional and esthetic consequences. Therefore, she asked a plastic surgery consultation and a surgical treatment with a combined technique was planned. With our approach, we were able to reduce leg diameter and improve joint mobility reliably and safely with satisfying esthetic results.

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Section: Discussionmentioning

confidence: 99%