Proteus syndrome of the foot: A case report and literature review

Abstract

Proteus syndrome (PS) is an extremely rare and sporadic disorder characterized by asymmetric and/or disproportionate overgrowth of limbs, hamartomas, and vascular malformations. The onset of overgrowth usually involves the skin, bone, fat, and other connective tissues in a patchy or mosaic pattern. Partial gigantism of the affected limb or digit is a pathognomonic sign of PS. Thus far, only a few cases of PS have been recorded in the literature. In the present report, a case of PS in a 35-year old woman with classic cerebriform plantar hyperplasia and macrodactyly of the left foot was documented. The clinical and molecular characteristics and differential diagnosis of PS are also discussed in this report.

Proteus Syndrome: Case Report and Updated Literature Review

“…1 We conducted a review of literature on this topic (►Table 3). [11][12][13][14][15][16][17][18][19] PS original studies and case reports were selected using PubMed, Embase, and Web of Science, these databases were searched for English language publications published from January 2014 to December 2023. The following search terms were used: (proteus [Title]) AND (syndrome [Title]).…”

Epidermal nevus superimposed by psoriatic plaque in a girl with proteous syndrome

“…PS is a complex disorder particularly characterized with disproportionate gigantism of the limbs accompanying with other abnormalities such as lipomas, varicosities, and verrucous epidermal nevi. 6 …”

“…PS is a complex disorder particularly characterized with disproportionate gigantism of the limbs accompanying with other abnormalities such as lipomas, varicosities, and verrucous epidermal nevi. 6 Although the most challenging part in the management of PS refers to the orthopedic abnormalities that might require multiple procedures, various cutaneous pathologies have been notified in PS and the patients with this syndrome may suffer severe cosmetic and functional consequences, even with aggressive treatments. 4 The rarity of PS coupling with the remarkable cutaneous pleiotropy with over 100 different reported abnormalities have led to considerable misdiagnoses, leading to delayed F I G U R E 1 A demarcated well-defined erythematous and scaly hyperkeratotic plaque.…”

“…Although mutations in AKT1 have been identified as the probable etiology of PS, the exact cause of this uncommon syndrome remained uncommon yet. PS is a complex disorder particularly characterized with disproportionate gigantism of the limbs accompanying with other abnormalities such as lipomas, varicosities, and verrucous epidermal nevi 6 …”