Proteus syndrome

Abstract

Proteus syndrome is a rare syndrome characterized by disproportionate overgrowth of limbs, multiple hamartomas, and vascular malformations. The cerebriform connective tissue nevi, also called cerebriform plantar hyperplasia, are present in most patients, and is the main characteristic of the syndrome. If present, even alone, they can be considered as a pathognomonic sign. This article reports a classic case of Proteus syndrome in a 2-year-old male patient who began to show a discrete asymmetry of the right hemibody in relation to the left one after birth, which increased over the months. He also showed cerebriform plantar hyperplasia and Port-wine stains, among other alterations.

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

“…She has multiple linear epidermal nevi but not cerebriform nevi of connective tissue in the palmar and plantar regions, considered almost pathognomonic [14].…”

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

“…Reassessment of the Proteus syndrome literature: Application of diagnostic criteria to published cases (11) 2004 A mosaic activating mutation in AKT1 associated with the Proteus syndrome (19) 2011 Proteus syndrome: Three case reports with a review of the literature (28) 2012 Proteus syndrome: Clinical profile of six patients and review of literature (29) 2013 Thoracolumbar scoliosis in a patient with Proteus syndrome: A case report and literature review (30) 2015 Island nail flap in the treatment of foot macrodactyly of the first ray in children: report of two cases (31) 2015 Recurrent cerebriform connective tissue nevus on the foot of a patient with Proteus syndrome (32) 2016 Proteus syndrome: A case report and review of the literature (14) 2017 Proteus syndrome (33) 2017 Case report: 'Incognito' Proteus syndrome (34) 2018 and rate of complications over time, early surgical interventions are vital to reduce extra malformations, physical defects, or loss of movement (6). In addition, it is necessary to monitor the patients for potential tumor development.…”

Pediatric Dermatology ‐ critical approach to the new treatments

“…Proteus syndrome , identified of a mosaic, somatic, heterozygous pathogenic variant in AKT1 , is characterized by progressive segmental or patchy overgrowth disease most usually affecting the skeleton, skin, adipose, and central nervous systems (Nathan, Keppler‐Noreuil, Biesecker, Moss, & Darling, ; Rocha, Estrella, Amaral, Barbosa, & Abreu, ). One case report has been published describing a 9‐month‐old boy of a life threatening and treatment‐refractory Proteus syndrome was referred to the management of using oral sirolimus, with clinical improvement in 2 months treatment (Marsh et al, ).…”