Proteus syndrome: Clinical profile of six patients and review of literature

Abstract

OBJECTIVE:Proteus syndrome (PS) is characterized by patchy or segmental overgrowth and hyperplasia of multiple tissues and organs, along with susceptibility to development of tumors. Very few cases are reported in literature from developing countries. Due to certain overlapping features with other overgrowth syndromes, diagnosis is usually delayed. Our aim was to describe clinical profile of this rare condition in six patients.MATERIALS AND METHODS:Retrospective case sheet review of patients followed in a Pediatric Genetic and Metabolic clinic at a tertiary care institute of North India with a diagnosis of hemihypertrophy/overgrowth syndrome.RESULTS:Six cases presented with asymmetric overgrowth and peculiar features suggestive of PS were included in this study. Age at presentation was 2 months to 10 years; two were males and four were females. Hemihypertrophy was noticed in only one case at birth, and focal overgrowths in rest of other patients were seen later during childhood.CONCLUSION:Due to certain overlapping features with other overgrowth syndromes, diagnosis of PS is usually delayed. Pediatricians are the first persons who come across such patients and they should be aware about this rare condition.

Operative Management of OSAS in a Complex Case of Proteus Syndrome

“…Proteus Syndrome (PS) is a complex hamartoneoplastic disorder consisting of disproportionate and asymmetric overgrowth of body parts, malformations of venous and lymphatic capillaries, and abnormal growth regulation of adipose tissue [ 1 ]. It was first described by Cohen and Heyden in 1979, but only in 1983 Rudolf Wiedemann, a German pediatrician, named it Proteus syndrome for a Greek sea-God, who could assume many forms to escape capture [ 1 – 3 ].…”

“…PS is extremely rare, with an estimated prevalence of approximately 1 : 1.000.000 being more common among males at a ratio of 1.9 : 1 [ 2 ]. So far, approximately 200 cases have been reported in the literature [ 1 ].…”

“…Notably, the risk of tumors, most of which are benign, is higher in PS than in general population and lipomas are the commonest [ 1 – 3 ]. Clinical features typically start between 1 and 18 months and develop over time.…”

“…General criteria are mandatory, whereas specific criteria are classified into three subgroups: A, B, and C ( Table 1 ). One feature of subgroup A or two features of B, or else three features of C, must be present to confirm the diagnosis [ 1 , 3 ].…”

“…The differential diagnosis ( Table 2 ) of PS must be done with neurofibromatosis type I (macrocephaly, café-au-lait spots, subcutaneous neurofibromas), Bannayan-Zonana syndrome (macrocephaly, craniofacial abnormalities), and other disorders presenting with hemihyperplasia, such as the Beckwith-Wiedemann syndrome (BWS), which is an overgrowth disorder with increased risk of embryonal tumors, such as Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma [ 1 , 3 , 5 ]. However, no consensus criteria for clinical diagnosis of BWS have been defined.…”