Proteus Syndrome: A Rare Case in An Adult Ward
| Autor: | Rita Rodrigues, Miriam Magalhães, Tatiana Costa Pires, Catarina Santos, Miguel Gonzalez Santos, Alcina Ponte, Rita Lizardo Grácio |
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| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
Capillary malformation Deep vein Connective tissue 03 medical and health sciences 0302 clinical medicine Rare case Internal Medicine medicine 030212 general & internal medicine overgrowth biology business.industry Articles thromboembolism medicine.disease biology.organism_classification proteus syndrome Dermatology Thrombosis Proteus syndrome Pulmonary embolism Proteus medicine.anatomical_structure 030220 oncology & carcinogenesis Medicine business |
| Zdroj: | European Journal of Case Reports in Internal Medicine (2021) Eur J Case Rep Intern Med |
| ISSN: | 2284-2594 |
| Popis: | Proteus syndrome is an extremely rare disorder that manifests as an asymmetric, disproportionate overgrowth of any connective tissue, such as bone, fat or epidermal nevi, in a mosaic or patchy pattern. It has an estimated prevalence of less than 1/1,000,000 live births. The diagnosis can be difficult because the phenotypes of the patients are variable. Many individuals develop cutaneous capillary malformation and prominent varicosities (large and complex vascular malformations). Thus, Proteus syndrome patients are at risk of developing deep vein thrombosis and pulmonary embolism. The authors present the case of a patient with Proteus syndrome who was admitted because of pulmonary thromboembolism and presented hypertrophy of the left arm and left hemithorax. LEARNING POINTS Proteus syndrome is an extremely rare disorder that manifests as an asymmetric, disproportionate overgrowth of any connective tissue. The diagnosis can be difficult because the phenotypes are variable. It is important to keep in mind the importance of anticoagulation because patients are at risk of developing deep vein thrombosis and pulmonary embolism. Keywords: Proteus syndrome, overgrowth, thromboembolism INTRODUCTION Proteus syndrome is a very rare hamartomatous syndrome first described by the German paediatrician Rudolf Wiedermann in 1983, and was named after the Greek sea god Proteus who could change his shape to evade capture [1]. With only 250 cases reported in the literature, it has an estimated prevalence of less than 1/1,000,000 live births [1–3]. This syndrome can occur in individuals of any race and shows a male predominance, with a male to female ratio of 1.9:1.5 [2]. |
| Databáze: | OpenAIRE |
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