Proteus syndrome (PS, OMIM 176920) is a hamartomatous disorder characterised by overgrowth of multiple tissues, connective tissue and epidermal naevi, and vascular malformations. These presentations are usually apparent at birth or soon after and continue to develop as the patient ages. It is named after the Greek god Proteus who, legend has it, could change his shape at will to avoid capture. ...

RATIONALE Proteus Syndrome (PS) is an extremely rare congenital pathology that causes overgrowth of multiple tissues, in particular bone and fat, following a mosaic pattern. The estimated incidence is of less than 1 per 1,000.000 live births and represents a significant challenge to the pediatric and orthopedic surgeons in order to establish a diagnosis and to elaborate a management plan. OBJ...

We report 3 patients with Proteus syndrome (PS) who died suddenly from pulmonary embolism (PE). The first patient was a male diagnosed with PS at 12 years who had varicose veins, portal vein thrombosis, right iliac vein occlusion and recurrent PE. At age 25 years, he was admitted to the hospital with a severe headache. Despite therapeutic doses of warfarin, investigations for an acute episode o...

Abstract Proteus syndrome is a rare, sporadic, congenital that causes asymmetric and disproportionate overgrowth of limbs, connective tissue nevi, epidermal alteration adipose tissue, vascular malformations. Genetic mosaicism, such as activating mutations involving protein kinase AKT1, phosphoinositide 3 (PI3-K), phosphatase tensin homolog (PTEN), may be important syndrome. However, many patien...

Proteus species are well-known opportunistic pathogens frequently associated with skin wound and urinary tract infections in humans and animals. O antigen diversity is important for bacteria to adapt to different hosts and environments, and has been used to identify serotypes of Proteus isolates. At present, 80 Proteus O-serotypes have been reported. Although the O antigen structures of most Pr...

Mutations of the PTEN gene are associated with hamartoma-neoplasia syndromes. While germline mutations at this chromosome 10q22-23 locus have been observed in patients with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), both of which phenotypes are associated with hamartomata and neoplasia, somatic mutation of PTEN has been established in a wide variety of sporadically occurr...

Combined/complex malformations Klippel-Trenaunay syndrome (capillary-lymphatico-venous malformation) Proteus syndrome Maffucci syndrome Table 110.1: Classification of lymphatic malformations. Introduction Lymphangiomas are developmental defects of the lymphatic channels that belong to a large spectrum of vascular malformations. They are most commonly located in the head and neck region, and to ...

Mutations of the PTEN gene are associated with hamartoma-neoplasia syndromes. While germline mutations at this chromosome 10q22-23 locus have been observed in patients with Cowden syndrome (CS) and Bannayan-RileyRuvalcaba syndrome (BRR), both of which phenotypes are associated with hamartomata and neoplasia, somatic mutation of PTEN has been established in a wide variety of sporadically occurri...

Proteus syndrome (PS) is a rare congenital hamartomatous disorder with multisystem involvement. PS shows highly clinical variability due to overgrowth of the affected areas, and several features can make anesthetic management challenging. Little is known about the airway problem associated with anesthesia in PS patients. An 11-year-old girl with PS was scheduled for ear surgery under general an...

Proteus syndrome (PS) is an extremely rare and complex disorder. Approximately 200 cases have been reported, and it seems to affect people of all ethnic and racial groups. PS is characterized by segmental overgrowth of multiple tissues and organs including vascular malformations, lipomatous overgrowth, hyperpigmentation, and various types of nevi. We hereby present a 7-year-old boy who presente...