Proteus syndrome: case report

Sene, Letícia Silva; Sales, Polyane de Oliveira; Chojniak, Rubens

doi:10.1016/s2255-4823(13)70480-6

Cited by 4 publications

(3 citation statements)

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“…Cerebriform connective tissue nevi presence is pathognomonic for Proteus Syndrome but is not seen in all patients. 7 Cutaneous capillary abnormalities and prominent varicosities (vascular malformations) develop in most patients. Therefore, patients with Proteus syndrome have a higher risk to develop deep vein thrombosis, pulmonary embolism, and respiratory failure which are the leading cause of death in these patients.…”

Section: Discussionmentioning

confidence: 99%

“…Patients may still suffer extensive functional impairment and cosmetic disfigurement despite aggressive treatment. 7 The socioeconomic impact of having this syndrome creates numerous important psychological issues: affected patients and their parents commonly report feeling isolated due to the rarity of the disease and the social stigma associated with having a progressively disfiguring disorder. Depressive symptoms may be seen in up to 23% of parents with affected offspring.…”

Section: Discussionmentioning

confidence: 99%

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Proteus Syndrome: A Rare Disease of Disproportionate and Asymmetric Overgrowth of Connective Tissue

QAISAR

Butt

Ghoauri

et al. 2023

J Ayub Med Coll Abbottabad

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Proteus syndrome is a rare disease manifested by progressive segmental overgrowth involving the skeletal, Cutaneous, subcutaneous, and nervous systems. We report the case of a 24-year-old female who was born with no obvious abnormality at birth. From the age of 1 year, she developed asymmetric enlargement of her left upper limb and bilateral lower limbs leading to enlargement of the right-hand phalanges with radial deviation, enlargement of the right big toe, lateral deviation of left foot, and discrepancy in the length of lower extremities and kyphoscoliosis. She had become bed-bound for the last few years due to increasing disability. She was diagnosed with Proteus syndrome based on clinical features of progressive course, mosaic distribution, and sporadic occurrence of the lesions.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Proteus Syndrome: A Rare Disease of Disproportionate and Asymmetric Overgrowth of Connective Tissue

QAISAR

Butt

Ghoauri

et al. 2023

J Ayub Med Coll Abbottabad

View full text Add to dashboard Cite

show abstract

“…Drug interactions or immunosuppression can worsen this condition. In case of any changes in mental state, problems with speech or walking, or decreased vision, consult with a doctor immediately because these symptoms may start and worsen quickly [43]. Mortality, graft rejection, and thrombosis in the hepatic artery are also reported in rapamycin administered patients.…”

Section: Medical Carementioning

confidence: 99%

Proteus Syndrome: Need for Patient Centric Therapy

Kuppusamy

Radhakrishnan

Shanmukhan

et al. 2018

Asian J Pharm Clin Res

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Proteus syndrome (PS) is a hamartomatous disorder with multisystem involvement that results from mutation in the AKT1gene. Since the symptoms and severity of PS are unique to each patient, diagnosis and treatment become hard for the physician. This article is concentrated upon the identification and recognition of specific characteristics of the disease, pathophysiology, symptoms, diagnosis, treatment and the necessity of advanced diagnosis, effective generalized and personalized therapy, as well as the requirement of new drugs for the management of PS. Detailed studies on the PS and evidence from the case reports revealed the requirement of intensive care, accurate diagnosis, and an effective treatment for each patient preferably patient-centric drug delivery due to the high degree of variation in the symptoms and clinical features among patients.

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Proteus Syndrome: A Rare Case in An Adult Ward

Santos

Grácio

Pires

et al. 2021

European Journal of Case Reports in Internal Medicine

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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.

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Proteus syndrome: case report

Cited by 4 publications

References 0 publications

Proteus Syndrome: A Rare Disease of Disproportionate and Asymmetric Overgrowth of Connective Tissue

Proteus Syndrome: A Rare Disease of Disproportionate and Asymmetric Overgrowth of Connective Tissue

Proteus Syndrome: Need for Patient Centric Therapy

Proteus Syndrome: A Rare Case in An Adult Ward

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