Case Study Open Access Khan I et al., J Genet Syndr Gene Ther 2015, 6:2 DOI: 10.4172/2157-7412.1000258 Volume 6 • Issue 2 • 1000258 J Genet Syndr Gene Ther ISSN: 2157-7412 JGSGT, an open access journal Introduction Proteus Syndrome (PS) is a rare disorder which includes malformations and excessive growth of many tissues. Te prevalence of PS has been estimated to be less than 1 case per 1,000,000 live births [1]. It is described as asymmetric disproportionate enlargement of skull, limbs or vertebra, with multiple of cutaneous lesions. A pathognomonic feature of PS is cerebriform connective tissue nevi, esp. of plantar foot, albeit it has not been reported in many cases [2]. Te term Proteus Syndrome was frst coined by Wiedemann et al in 1983, afer the Greek God Proteus who displayed multiple forms [3]. Turner et al conducted a detailed literature review in 2004, and found about 205 case reports published on PS till then [4]. Tey further reported that out of those 205 cases, only 97 were true cases of PS based on the diagnostic criteria. Te syndrome can occur in any race, and is slightly predominant in males with a male to female ratio of 1.9:1 [4]. In Pakistan, Mashood et al reported a case of PS in 2007 [5]. Our case is the second confrmed case ever reported from Pakistan. Te aim of our report is to contribute to the literature about the presentation, diagnosis and management of PS syndrome. Case Report 18 year old, unmarried male presented in out-patient department with complaint of unilateral right leg and thigh swelling since birth. It has gradually progressed over years to the present size. It is associated with increase size of hands and feet. Tere is no history of similar illness in family. On examination, the patient is noted to have nasal twang with high arched palate. Patient had normal intelligence and his vital were stable. He had epidermal naevus present over the back of neck, face, forehead and upper chest with easy bruisability. His hand and feet were enlarged bilaterally. Te right leg had unilateral non-pitting edema below knee. Multiple dilated veins were visible on medial and lateral side of both legs but more prominent on medial side. Patient had saphenavarix, with a positive cough impulse. Te Schawartz and Fagan test were positive but modifed Perthe’s was negative. Patient’s had syndactyly of second and third toe of right foot. Te other systemic examination was unremarkable (Figures 1-4). On investigation, complete blood count, blood urea nitrogen, electrolytes, creatinine and coagulation profle were within normal limits. Te chest radiograph was normal. *Corresponding author: Maroof Hassan, Dow University of Health Sciences, Karachi, Pakistan, E-Mail: maroofhassan10@gmail.com Received January 28, 2015; Accepted February 14, 2015; Published February 20, 2015 Citation: Khan I, Hassan M, Memon AS, Memon AA (2015) Proteus Syndrome: Case Report from Karachi, Pakistan. J Genet Syndr Gene Ther 6: 258. doi:10.4172/2157-7412.1000258 Copyright: © 2015 Hassan M. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Proteus Syndrome: Case Report from Karachi, Pakistan Iqra Khan, Maroof Hassan, Amjad Siraj Memon, Akhtar Amin Memon Dow University of Health Sciences, Karachi, Pakistan Figure 1: Epidermal nevus seen on right side of neck. Figure 2: varicose vein seen on lower limb. Figure 3: Syndactyly present between second and third toes of right feet. Journal of Genetic Syndromes & Gene Therapy J o u r n a l o f G e n e t i c S y n d r o m e s & G e n e T h e r a p y ISSN: 2157-7412