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Year : 2006  |  Volume : 16  |  Issue : 1  |  Page : 55-56
Case report : Proteus syndrome - an unusual hamartomatous disorder


Department of Radiology Gujarat Cancer And Research Institute Civil Hospital Campus, Ahmedabad - 16, Gujarat, India

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Keywords: Proteus syndrome, CT Scan, Skeletal Survey

How to cite this article:
Patel S B, Shah S R, Goswami K G, Jain S, Shah D, Katti A. Case report : Proteus syndrome - an unusual hamartomatous disorder. Indian J Radiol Imaging 2006;16:55-6

How to cite this URL:
Patel S B, Shah S R, Goswami K G, Jain S, Shah D, Katti A. Case report : Proteus syndrome - an unusual hamartomatous disorder. Indian J Radiol Imaging [serial online] 2006 [cited 2019 Jul 21];16:55-6. Available from: http://www.ijri.org/text.asp?2006/16/1/55/29047

   Introduction Top


Proteus syndrome is a congenital hamartomatous disorder of neuroectodermal origin distinct from other neurocutaneous disorder such as Neurofibromatosis or Klippel Trenauney  Weber syndrome More Details. It was first reported in 1979 and was named Proteus Syndrome after the Greek God proteus who could change his shape at will to avoid capture.


   Case report Top


A two year old female child presented with history of mental retardation, seizures, enlarged head, protrusion of the right eye, a depressed nasal bridge and swelling over the right side of nose and increasing abdominal girth.

On examination she was found to have macrocrania and achromic naevus on the right side of the nose [Figure - 1], macrodactyly of the right index and middle finger [Figure - 2] and an obvious soft tissue bulge over left side of abdomen which was doughy on palpation. Her left lower limb was grossly enlarged and pigmented. Gyriform hyperkeratosis of left sole was observed. A skeletal surey was performed and contrast enhanced CT san of head, abdomen and left lower limb was preformed on Hitachi W-2000 Spiral CT Scanner. The skeletal survey revealed macrocrania [Figure - 3]. Malformed vertebral bodies, enlarged metacarpals and phalanges of right middle and index finge and uniform enlargement of bones of left lower limb [Figure - 4].


   Discussion Top


Macrocrania, hemihypertrophy, subcutaneous lipoma, macrodactyly and epidermal naevi are classical manifestation of Proteus Syndrome [5]. This syndrome shares significant overlap with other hamartomatous disorders like Klippel Trenauney Weber Syndrome

Neurofibromatosis,  Riley-Smith syndrome More Details, etc. Cutaneous manifestations such as epidermal naevi, hyperkeratosis and subcutaneous mass [3] in addition to the features described above permits a confident diagnosis. Other features which is typical of this syndrome are calvarial exostosis, spectrum of ocular anomalies such as macropthalmia, heterocromia iridis, cataract and chorioretinitis. Hypertrophy of scapula and ribs, megaspondylodyspalsia, kyphoscoliosis, macro-orchidism and penile hypertrophy [4],[5]. Involvement of both kidneys by this disorder with altered RFT has been described [2].

Given the protean manifestation of this disorder we believe that diagnosis of this syndrome must always be considered in patients, with features described above.

 
   References Top

1.Mucke J et al. Variability in the proteus syndrome: Repport of an affected child with progressive lipomatosis. Eur. J. Paediatr. 143:320,1985.  Back to cited text no. 1    
2.Sato T, Ota M, Miyazaki S: Proteus Syndrome with renal involvement. Acta. Pediatr. Jpn. 1995 Feb:# & (1):81-3.  Back to cited text no. 2    
3.Viljeon DL, et al: cutaneous manifestation of the proteus syndrome Paediatr. Dermatol. 5-14:1988.  Back to cited text no. 3    
4.Tattelbaum AG, Dufresne CR: Proteus Szyndrome - a newly recognized hamartomartous syndrome with signicant craniofacial dismorphology. J Cranioface. Surg. 1995, Marc:6(2): 151-160.  Back to cited text no. 4    
5.Taybi and Lachman: Syndromes, metabolic disorders and skeletal dysplasia. Ed.3 380-381.  Back to cited text no. 5    

Top
Correspondence Address:
S B Patel
Department of Radiology Gujarat Cancer And Research Institute Civil Hospital Campus, Ahmedabad - 16, Gujarat
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-3026.29047

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    Figures

[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7]



 

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    Introduction
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    References
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