Proteus Syndrome
Proteus syndrome is a rare condition. It was first described in 1979 by Michael Cohen. Hans-Rudolf Wiedemann named the condition after the Greek god Proteus, who could assume many forms. The disorder gained wide recognition when it became publicized that Joseph (John) Merrick, the person depicted in the movie The Elephant Man, probably had Proteus syndrome. 3
Desmoplastic tumor implants, presumably noninvasive, were present in biopsies from the pelvic floor, cul-de-sac and omentum. This is the first recognized example of a cystic borderline epithelial tumor of the female genital tract and the first paraovarian tumor reported in a patient with Proteus syndrome. Previously reported tumors and cystic lesions involving the female genital tract and the male genital tract in patients with Proteus syndrome are reviewed. 2
INTRODUCTION Proteus syndrome was first identified by Michel Cohen in 1979 and named by Rudolf Wiedmann in 1983. It is a rare condition that can be loosely categorized as a hamartomatous disorder with great clinical variability. 1
Proteus syndrome is an extremely rare genetic disorder that is characterised by the abnormal growth of bones and blood vessels, and various skin lesions including lipomas, epidermal naevi and caf? au lait macules. The gene involved has yet to be identified but the mutation to the gene leading to this syndrome is thought to occur soon after conception. However, the condition is usually not evident until late infancy or early childhood when signs and symptoms start to appear. 4
Proteus syndrome is a rare condition. It was first described in 1979 by Michael Cohen. Hans-Rudolf Wiedemann named the condition after the Greek god Proteus, who could assume many forms. The disorder gained wide recognition when it became publicized that Joseph (John) Merrick, the person depicted in the movie The Elephant Man, probably had Proteus syndrome. 3
Down Syndrome [DS] is a genetic malfunction that is found to affect one in every eight hundred children born. It is named after the English physician, Dr.Langdon Down who first identified it in 1887. For long DS was regarded as a condition which afflicts inexplicably. It was only in 1959 that the cause for the affliction was identified as the presence of one extra chromosome. In the natural course of the origin of a human being, the child receives 23 chromosomes each from both the parents, making the total number of chromosomes 46. However, in the rare cases that the number of chromosomes increases to 47, the child suffers from the Down Syndrome. 7
Various benign and malignant tumors may complicate the clinical course of patients with the syndrome (6, 7). Commonly encountered tumors include lipomas, hemangiomas, and lymphangiomas. Tumors of the genital tract occur less often. Certain neoplasms occurring before the end of the second decade of life, specifically bilateral ovarian cystadenomas or parotid monomorphic adenoma, are regarded as important findings in establishing a diagnosis of Proteus syndrome (1, 5). It is the first recognized borderline cystic epithelial tumor and the first example of a paraovarian tumor reported in Proteus syndrome. She is the eighth reported patient with a cystic lesion of the uterine adnexae in a patient with this rare syndrome. Previously reported tumors and related lesions of the female genital tract and male genital tract in Proteus syndrome are reviewed. 5
