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  IN THIS Article
 ::  Abstract
 ::  Introduction
 ::  Case report
 ::  Discussion
 ::  Acknowledgment
 ::  References

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CASE REPORTS
Year : 1993  |  Volume : 39  |  Issue : 4  |  Page : 219-21

The Proteus syndrome.


Dept of Paediatrics, KEM Hospital, Parel, Bombay, Maharashtra.

Correspondence Address:
S Alavi
Dept of Paediatrics, KEM Hospital, Parel, Bombay, Maharashtra.

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Source of Support: None, Conflict of Interest: None


PMID: 0007996501

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 :: Abstract 

A race case of Proteus syndrome is presented. The main features of this hamartomatous condition are partial gigantism of hands and feet, hemihypertrophy, subcutaneous masses, epidermal nevi and bony abnormalities. The condition is extremely rare. Though the child had severe cosmetic disability, motor intellectual and language development was found to be normal.


Keywords: Aftercare, Case Report, Human, Infant, Male, Proteus Syndrome, complications,epidemiology,genetics,pathology,surgery,


How to cite this article:
Alavi S, Chakrapani A, Kher A, Bharucha B A. The Proteus syndrome. J Postgrad Med 1993;39:219

How to cite this URL:
Alavi S, Chakrapani A, Kher A, Bharucha B A. The Proteus syndrome. J Postgrad Med [serial online] 1993 [cited 2018 Dec 13];39:219. Available from: http://www.jpgmonline.com/text.asp?1993/39/4/219/588





  ::   Introduction Top


Proteus syndrome is a recently delineated congenital hamartomatous malformation'. It is a severe and rare condition with a wide spectrum of abnormalities, the main features being

The term Proteus syndrome was coined by Wiedemann in 1983,[1] after the mythical Greek God Proteus, whose name means “The polymorphous", who could change shape to avoid capture. The term is appropriate as the Proteus syndrome exhibits tremendous morphologic variability with time.

This report profiles a case which had almost all the major abnormalities of the syndrome and mainly emphasises the morphologic variability of presentation. The first case from India has been reported in 1990 from this institution[3].


  ::   Case report Top


A one-year-old male child was referred to the Genetic Clinic with complaints of abnormal shape of fingers and toes noticed at birth. He was delivered at term of a primigravida from a nonconsanguinous marriage with no family history of similar abnormalities. There was no antenatal exposure to medication or radiation. The intra-natal and peri-natal period was uneventful. Birth weight was 2.5 kg. At birth, the following features were noticed-pectus carinatum, flexion deformity of wrists, mild hypertrophy of right middle finger and second, third and fourth toes bilaterally. There were no vascular malformations or prominent vessels in the course of the limbs. No bony swellings or subcutaneous masses were noticed at that time. The motor, intellectual and language development of the child was subsequently normal.

The child was followed up at the age of one year when many new features became apparent. Height was 72 cm, weight 8 kg and head circumference 45 cm, all of which were in the normal range for age. The dysmorphic features and other abnormalities noticed are given in [Table:1]. [Figure:1] illustrates some of these features.

Investigations done, revealed normal optic fundi, normal serum calcium, phosphorus, alkaline phosphatase, and thyroid profile. 2D-echocardiogram and ultrasonographic examination of abdomen were normal. Karyotype from peripheral leucocyte culture revealed normal 46XY pattern. Skeletal survey showed thoracic scoliosis and bilateral radiouinar synostosis.


  ::   Discussion Top


The Proteus syndrome is a disorder of skeletal, hamartomatous and other mesodermal malformation. The unique feature of the condition is the tremendous morphologic variability exhibited by the patients with time. At birth this child had no clearcut features that pointed towards Proteus syndrome. The enlarged fleshy toes raised the probability of megadactyly as the only sign of Klippel-Trenaunay- Weber syndrome More Details in partial isolation.

Hernihypertrophy and subcutaneous masses were absent at that time. The full blown features of Proteus syndrome were seen at one year providing a striking phenotypic contrast [Figure:1]. Six out of seven major abnormalities of the syndrome were documented in the child [Table:1].

Although these patients display gross limb anomalies, systemic involvement is very rare. The systemic abnormalities documented so far are cystic malformation of lung[1], brain malformation with intractable seizures [4] and pelvic lipomass. Ambiguous genitalia is also reported recently[6].

A total of 34 cases of the Proteus syndrome have been reviewed by Samiaska, et al[7]. [Table:1] depicts the detailed major end occasional abnormalities of the syndrome along with features in the present cases. Of the seven major abnormalities described, the present case had six. So far there are no well defined criteria for the diagnosis, but Samlaska, et al suggested that the presence of five or more out of seven major abnormalities should be sufficient to label the syndrome[7]. According to Clark, et al[8] the palmar and plantar 'gyriform' masses may be considered a pathognomonic sign. Histologicaly these are connective tissue nevi or lipomata.

Syndromes like neurofibromatosis, Klippel-Trenaunay-Weber, Mafucci also can present with hemihypertrophy, macrodactyly, and therefore need to be differentiated from Proteus syndrome [9].

The cause of Proteus syndrome is unknown[9]. All cases are presumably of sporadic inheritance without sexual bias. Chromosomal studies to date have been normal. It has been reported that this syndrome might result from a somatic mutation[1][0]. Receptors of the tissue growth factors may be altered, thus causing overgrowth of cellular elements of skin, bone and other connective tissue[1][1].

Proteus syndrome patients require frequent follow-ups and examinations owing to their changing and often disfiguring appearance. The soft tissue hypertrophy and abnormal skeletal growth generally arrest at puberty. Corrective surgical measures can then be accomplished. The intelligence and life span of these patients is normal.


  ::   Acknowledgment Top


The authors wish to express their gratitude and wish to thank Dr PM Pai, Dean, King Edward Memorial Hospital and Seth GS Medical College, Bombay for granting permission to publish this paper.

 
 :: References Top

1. Wiedemann HR, Burgio GR, Aldenhoff P. The Proteus syndrome. Eur J Padiatr 1993; 40:5-12.  Back to cited text no. 1    
2.Mayalepik E, Kurezynisk TW, Rupport SE. Expanding the phenotype of the Proteus syndrome, a newly affected patient with new findings. Am J Med Genet 1987; 27:99-117.  Back to cited text no. 2    
3.Bharucha BA, Khubchandani RP, Parikh DA, Vaidya PG, Kher A, Kumta NB. Proteus syndrome. Indian Pediatr 1990; 27:1312-1316.  Back to cited text no. 3    
4.Rizzo R, Pavone L, Sorge G. Proteus syndrome, report of a case with severe brain impairment and fatal course. J Med Genet 1990; 27:399-402.  Back to cited text no. 4    
5.Kontras SB, Costa J, Fitch N. Proteus syndrome - a report of two cases with pelvic lipomas. J Pediatr 1985; 76:984-989.  Back to cited text no. 5    
6.Frydman M, Kaushansker A, Vansoni I. Ambiguous genitalia in Proteus syndrome. Am J Med Genet 1990; 36:511-512.  Back to cited text no. 6    
7.Samlaska CP, Levin SW, James WD, Benson PM. Proteus syndrome. Arch Dermatol 1989; 125:104-114.  Back to cited text no. 7    
8.Clark DR, Donnai D, Rogers J. Proteus syndrome, an expanded phenotype. Am J Med Genet 1987; 27:99-177.  Back to cited text no. 8    
9.Jones KL. Smith's Recognisable Patterns of Human Malformation, 4th ed. Philadelphia: WB Saunders; 1988, pp 441-475.  Back to cited text no. 9    
10.Happles R. Cutaneous manifestations of the lethal genes. Human Genet 1986; 72:28-97.  Back to cited text no. 10    
11.Viljoen DL, Nelson MM, DeJong. Proteus syndrome in South Africa. Natural history and clinical manifestation in six individuals. Am J Med Genet 1987; 27:87-97.   Back to cited text no. 11    



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