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CORRESPONDENCE
Year : 2015  |  Volume : 60  |  Issue : 2  |  Page : 202-204
Hemilateral proteus syndrome: An unusual hamartomatous disorder with significant cerebellar tonsillar herniation


Department of Dermatology, I.P.G.M.E and R., S.S.K.M. Hospital, Kolkata, India

Date of Web Publication3-Mar-2015

Correspondence Address:
Archana Saha
Department of Dermatology, I.P.G.M.E and R., S.S.K.M. Hospital, Kolkata
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0019-5154.152538

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How to cite this article:
Saha A, Halder C, Sen S, Chatterjee G. Hemilateral proteus syndrome: An unusual hamartomatous disorder with significant cerebellar tonsillar herniation. Indian J Dermatol 2015;60:202-4

How to cite this URL:
Saha A, Halder C, Sen S, Chatterjee G. Hemilateral proteus syndrome: An unusual hamartomatous disorder with significant cerebellar tonsillar herniation. Indian J Dermatol [serial online] 2015 [cited 2019 Dec 14];60:202-4. Available from: http://www.e-ijd.org/text.asp?2015/60/2/202/152538


Sir,

A 14-year-old boy, born to nonconsanguineous parents following normal pregnancy, presented to the outpatient clinic with asymmetry of limbs, linear pigmented lesion over the right side of the body, and erythematous spots over both palms and soles since birth. There was no history of convulsion, headache, or visual disturbances and none of the family members was affected.

On clinical examination, a verrucous naevoid-like structure was found on the right side of body along the line of Blaschko. There was hemihypertrophy over the right side of body predominantly the right lower limb with mild hypertrophy of trunk and face [Figure 1]. The boy had scoliosis, a golf-ball size soft lump on the thoracolumbar region of back, and a Port-wine stain on both palms and soles [Figure 2].
Figure 1: Hemihypertrophy and linear verrucous epidermal nevus of right side of the body

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Figure 2: Hemihypertrophy, liner verrucous epidermal nevus of right side of the body, and a golf ball size lump on the back

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On histopathological examination of the nevus, it was found to be verrucous epidermal type [Figure 3]. X-rays of skull, pelvis, vertebrae, and extremities were normal except for mild scoliosis of spine. Magnetic resonance imaging of brain revealed significant cerebellar tonsillar herniation of about 7.5 mm [Figure 4]. The above findings helped us to diagnose it as a case of Proteus syndrome.
Figure 3: Histopathology of nevoid verrucous lesion shows orthokeratotic hyperkeratosis, acanthosis of epidermis with papillomatosis and basal layer hyperpigmentation, and upper dermal scanty perivascular inflammatory infiltrate (H and E, ×100)

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Figure 4: MRI of brain showing significant cerebellar tonsillar herniation (7.5 mm)

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Proteus syndrome is a congenital hamartomatous disorder with protean manifestations. The revised criteria for diagnosis of Proteus syndrome [1] comprise two sets: General and specific. Diagnosis requires the presence of all general criteria that include mosaic distribution of lesions, sporadic occurrence, and progressive course; and various specific criteria, including the presence of all of category A criterion or 2 of category B criteria or 3 of category C criteria. [1] [Table 1] shows the specific criteria.
Table 1: Specific criteria for diagnosis of proteus syndrome


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Cutaneous manifestations include striking overgrowth, which involve asymmetric hypertrophy of the face, whole or part of a limb (particularly digits) or trunk, or any combination of these; even, hemihypertrophy of one side of the body results. [2] Epidermal nevi, commonly of verrucous type which runs in a linear or whorled pattern along the lines of Blaschko, as in our case, is a common finding of Proteus syndrome. [3] Vascular malformations are other common cutaneous findings. A port-wine stain of both palms and soles was present in our case.

Patients with Proteus syndrome may have adipose tissue abnormalities that include lipomas, the second most common skin finding of our case. The common sites are head, neck, groin, or legs. [2],[3] Among the noncutaneous findings of skeletal overgrowth are cranial hemihypertrophy, hemimegalencephaly, hemihypertrophy of bones of face, one-half of meninges, unilateral tonsillar hypertrophy, hyperostosis of the skull, long-bone overgrowth, and scoliosis. [4] The main differential diagnoses are Klippel-Trenaunay Weber syndrome, neurofibromatosis type-I, Maffucci syndrome, and Bannayan-Riley syndrome. [5]

In most of the cases, Proteus syndrome is localized to one part of the body. Cerebellar tonsillar herniation without any cortical or bony abnormalities has rarely been reported. In our case, the features were strictly hemilateral with only cerebellar tonsillar herniation. It does not involve cortical or bony changes or any neurological signs. The findings of the ailment are based primarily on clinical manifestations and have been compiled here to be used as a compact database of the varied features of this complex syndrome.

 
   References Top

1.
Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM Jr, Viljoen DL, et al. Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet 1999;84:389-5.  Back to cited text no. 1
    
2.
Atherton DJ. Naevi and other developmental defects. In: Champion RH, Burton JL, Burns DA, editors. Rook/Wilkinson/Ebling's Textbook of Dermatology. 6 th ed. Oxford, England: Blackwell Science; 1998. p. 519-66.  Back to cited text no. 2
    
3.
Cohen MM Jr. Proteus syndrome: An update. Am J Med Genet C Semin Med Genet 2005;137:38-52.  Back to cited text no. 3
    
4.
del Rosario Barona-Mazuera M, Hidalgo-Galván LR, de la Luz Orozco-Covarrubias, Durán-McKinster C, Tamayo-Sánchez L, Ruiz-Maldonado R. Proteus syndrome: New findings in seven patients. Pediatr Dermatol 1997;14:1-5.  Back to cited text no. 4
    
5.
Sarma N, Malakar S, Lahiri K. Unilateral proteus syndrome. Indian J Dermatol Venereaol Leprol 2005;71:122-4.  Back to cited text no. 5
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]
 
 
    Tables

  [Table 1]



 

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