Proteus Syndrome: A Rare Case in An Adult Ward

Abstract

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.

Proteus Syndrome: Case Report and Updated Literature Review

“…Dysregulated adipose tissue was found in the affected buttock, as well as vascular malformations. This exact clinical presentation has not been described yet in the literature [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17], which implies how this disease can manifest in many ways.…”

“…With fewer than 250 cases documented in the literature, the rarity of its occurrence provides justification for this report [9]. This is the case report of a 22-month-old female patient who presented herself at the plastic surgery clinic with a rare case of Proteus syndrome, confirmed by genetic testing.…”

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

“…There is no definite treatment and management is multi-disciplinary including psychological and clinical support. 2,4 Surgical intervention may be directed to improve functional status. Although difficult, it is pertinent to manage overgrowth in Proteus syndrome and requires orthopedic procedures over the years.…”

“…1 It is characterized by disproportionate and asymmetric overgrowth of connective tissue including epidermal nevi, fat, or bones in a patchy or mosaic pattern leading to disfigurement and disability. 2 The histo-pathological findings of Proteus Syndrome include diffuse patchy overgrowth of cutaneous and subcutaneous tissue, defects in ossification, and plantar cerebriform connective tissue nevus. 2 Proteus syndrome has no or very few manifestations at birth in most patients.…”

“…2 The histo-pathological findings of Proteus Syndrome include diffuse patchy overgrowth of cutaneous and subcutaneous tissue, defects in ossification, and plantar cerebriform connective tissue nevus. 2 Proteus syndrome has no or very few manifestations at birth in most patients. It manifests progressively in the toddler period and then progresses throughout childhood and adolescence which may lead to severe disfigurement by skeletal overgrowth and disability.…”