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Year : 2016  |  Volume : 17  |  Issue : 2  |  Page : 121-124

Unilateral proteus syndrome in a neonate: A very rare presentation

1 Department of Dermatology, Malda Medical College, Malda, West Bengal, India
2 Department of Pediatrics, Malda Medical College, Malda, West Bengal, India
3 Department of Neonatology, IPGMER-SSKM Hospital, Kolkata, West Bengal, India

Date of Web Publication30-Mar-2016

Correspondence Address:
Chinmay Kar
Sadatpur, Manasinghapur, Howrah - 711 404, West Bengal
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.175659

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Proteus syndrome (PS) is a rare sporadic disorder with postnatal asymmetric overgrowth from any of the three germinal layers. The tissue overgrowth may present at birth but becomes more conspicuous with the progression of age. Though it apparently can affect any tissue, it commonly involves skin, bones, and central nervous system. The PS is difficult to diagnose as any part of the body is affected along with several complications. To overcome the diagnostic confusion, there are three general mandatory criteria with at least one of the three category signs designated as specific criteria according to First National Conference on PS. We diagnosed our case by connective tissue nevus in sole with three general criteria. Huge cerebriform nevus sebaceous as epidermal nevus was not found previously. A few neonatal PS cases were reported. All the lesions were unilaterally distributed. Our case was neonatal PS with unilateral distribution. We report this case because of its rarity.

Keywords: Cerebriform nevus sebaceous, connective tissue nevus, neonatal, proteus syndrome

How to cite this article:
Kar C, Singh S, Sardar S, Biswas G, Murmu R. Unilateral proteus syndrome in a neonate: A very rare presentation. Indian J Paediatr Dermatol 2016;17:121-4

How to cite this URL:
Kar C, Singh S, Sardar S, Biswas G, Murmu R. Unilateral proteus syndrome in a neonate: A very rare presentation. Indian J Paediatr Dermatol [serial online] 2016 [cited 2020 Oct 25];17:121-4. Available from: https://www.ijpd.in/text.asp?2016/17/2/121/175659

  Introduction Top

Proteus syndrome (PS) is a rare disorder of patchy or mosaic postnatal asymmetric overgrowth of any tissue of the body.[1] The features of PS may be present at birth, but they are well-understood with the progression of age.[2] To diagnose this syndrome, there are three categories of specific criteria with mandatory general criteria of mosaic distribution of lesion, progressive course, and sporadic occurrence. PTEN tumor suppressor gene abnormalities have been described in this syndrome, but there is no definite genetic inheritance.[3] The name is derived from Greek mythology sea God Proteus, who was able to change his shape at will.[4] Here, we report a rare case of neonatal PS with unilateral involvement.

  Case Report Top

A 3-day-old female child born of cesarean section was admitted in our special newborn care unit with huge cerebriform swelling over the right side of the scalp, upper face, ear, and neck [Figure 1]. There were also multiple soft to firm swellings of varying sizes over right sole [Figure 2]a and [Figure 2]b. Few small swellings in linear distribution were also present in right vulva encroaching toward anus and inner aspect of right thigh [Figure 2]b. The child cried after birth. There was no history of respiratory distress or convulsion. There was no significant maternal drug history during pregnancy. The patient was the second child of nonconsanguineous parents, and a first girl child was normal. Mother had no history of abortion. There was no history of similar complaint of any member of the family.
Figure 1: Cerebriform nevus sebaceous at right scalp, face, and neck

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Figure 2: (a) Connective tissue nevus at right sole on day three. (b) Connective tissue nevus at sole and vulva on day three. (c) Cerebriform connective tissue nevus on the 28th day. (d) Cerebriform connective tissue nevus on the 48th day

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On examination, the neonate had almost normal pulse rate, respiration, temperature, blood pressure, reflexes, and feeding habit. The first described lesion was yellowish orange in color, velvety feeling, huge cerebriform plaque along Blaschko's lines of the right side of the scalp, upper part of the face, ear, and neck. Few lesions of the face were papuler, and single polypoidal scalp lesion was seen. Punch biopsy was done, and histopathological examination (HPE) of lesion showed intact epidermis, occasional immature hair germ such as structures projecting as buds from the epidermis into dermis containing normal looking sebaceous gland clusters. Few sebaceous glands directly opened through epidermis. There was no terminal hair [Figure 3]a and [Figure 3]b. Hence, this lesion was huge cerebriform nevus sebaceous (NS) in mosaic pattern.
Figure 3: (a) Histopathological examination of nevus sebaceous, H and E, ×10. (b) Histopathological examination of nevus sebaceous, H and E, ×25

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Examination of right sole revealed multiple soft to firm, skin colored, papules, nodules, and plaques. The left sole was completely normal. Similarly, skin colored few papules and one nodule in linear distribution were found in right vulva. Few discrete papules were found in the inner aspect of right thigh.

We reviewed the case on the 28th day of age. We surprisingly noticed that the lesions of right sole were progressively enlarged and cerebriform appearance [Figure 2]c. Punch biopsy was done, and HPE showed hyperkeratosis and acanthosis of epidermis. Dermis showed marked proliferation of collagen fibers in haphazard fashion with perivascular lymphomononuclear cells infiltration [Figure 4]a and [Figure 4]b. Then, we stamped this lesion as cerebriform connective tissue nevus (CCTN). The vulval and thigh lesions had no change and clinically they were very much similar to the lesions of sole. The NS became blackish and more convoluted. Again, we reviewed the case on the 48th day. It was seen that CCTN was progressed to right third toe [Figure 2]d.
Figure 4: (a) Histopathological examination of cerebriform connective tissue nevus, H and E, ×40. (b) Histopathological examination of cerebriform connective tissue nevus, H and E, ×50

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Whole body digital X-ray revealed no lung cyst or bony abnormality. Magnetic resonance imaging brain showed no abnormality. Routine blood tests were also within normal limit. In our case, the NS was an organoid epidermal nevus in mosaic pattern. There was progressive growth of CCTN. The case was sporadic in nature. Hence, by compiling three general criteria of mosaic pattern, progressive course, and sporadic occurrence with specific criteria of CCTN, we stamped our case as PS. All features were distributed in the right side. The huge cerebriform NS of various morphologies was not reported earlier in PS. We report this classic unilateral PS in a neonate because of its rarity.

  Discussion Top

PS was originally described by Cohen and Hayden in 1979 as a newly recognized disorder of overgrowth of multiple tissues, CTN, epidermal nevus, and hyperostoses.[5] This disorder was designated as PS by Wiedemann et al. in 1983 due to its variable clinical presentation and evolution such as Greek sea God Proteus.[6] This hamartomatous syndrome is very rare with an estimated prevalence of approximately 1:1,000,000 with male predominance.

Due to varying clinical expression, there was always a diagnostic dilemma. To overcome this, tentative recommendations were made in First National Conference on PS [Table 1].[7] These recommendations should be tentative because future clinical and molecular studies may necessitate modification. Our patient had mosaic distribution of epidermal lesion, progression of CTN, and sporadic occurrence in the family. CTN on the sole as category A sign was documented in our case. It was present since birth and became cerebriform within 1 month. The CTN at vulva and inner side of thigh did not show any progression. Though CTN is very common, but it is facultative. When present, it is always pathognomonic for PS. A few isolated examples of CTN had been recorded, but subsequently they turned into PS.[8] There is another entity of collagenoma which is always acquired and appears as a hereditary trait or as part of tuberous sclerosis. In CTN scoring system, our patient scored 3 points at the first visit and turned to 5 points at third visit.[9]
Table 1: Diagnostic criteria of proteus syndrome (recommended in First National Conference on Proteus Syndrome)

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In category B signs, epidermal nevus is another important finding. According to recommendations, it is flat and nonorganoid type. It is soft rather than hard like verrucous type, which is not found in this syndrome.[7] However, huge cerebriform NS, an organoid nevus, with different morphologies along blaschko's lines was found in our case. This type of nevus is not recommended in diagnostic criteria. As the recommendations are tentative, continuous vigilance is needed to modify the recommendations.

Our case was diagnosed at neonatal age and asymptomatic. Very few neonatal PS were reported. When the neonatal PS is severe, the progression may occur prenatally.[10] However, our asymptomatic case was more in favor of postnatal progression due to somatic mosaicism. Like our case, few unilateral PS cases were reported.[11],[12]

The main differential diagnoses are NS syndrome, Klippel–Trenaunay Weber syndrome, Bannayan–Riley syndrome, Hemihyperplasia syndrome, Neurofibromatosis, etc. All these were excluded by pathognomonic feature of CCTN in PS.

So our case was a rare, asymptomatic, unilateral, and neonatal PS.

Declaration of Patient Consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of Interest

There are no conflicts of interest.

  References Top

Biesecker L. The challenges of proteus syndrome: Diagnosis and management. Eur J Hum Genet 2006;14:1151-7.  Back to cited text no. 1
Sigaudy S, Fredouille C, Gambarelli D, Potier A, Cassin D, Piquet C, et al. Prenatal ultrasonographic findings in proteus syndrome. Prenat Diagn 1998;18:1091-4.  Back to cited text no. 2
Zhou X, Hampel H, Thiele H, Gorlin RJ, Hennekam RC, Parisi M, et al. Association of germline mutation in the PTEN tumour suppressor gene and proteus and proteus-like syndromes. Lancet 2001;358:210-1.  Back to cited text no. 3
Moss C, Shahidullah H. Name I and other developmental defects. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook's Text Book of Dermatology. 8th ed. Oxford, UK: Wiley-Blackwell; 2010. p. 18.1-18.107.  Back to cited text no. 4
Cohen MM Jr, Hayden PW. A newly recognized hamartomatous syndrome. Birth Defects Orig Artic Ser 1979;15:291-6.  Back to cited text no. 5
Wiedemann HR, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Schirg E. The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections. Eur J Pediatr 1983;140:5-12.  Back to cited text no. 6
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;84:389-95.  Back to cited text no. 7
Uitto J, Murray LW, Blumberg B, Shamban A. UCLA conference. Biochemistry of collagen in diseases. Ann Intern Med 1986;105:740-56.  Back to cited text no. 8
Beachkofsky TM, Sapp JC, Biesecker LG, Darling TN. Progressive overgrowth of the cerebriform connective tissue nevus in patients with proteus syndrome. J Am Acad Dermatol 2010;63:799-804.  Back to cited text no. 9
Kumar R, Bhagat P. A severe and rapidly progressive case of proteus syndrome in a neonate who presented with unilateral hydrocephalus apart from other typical features of the proteus syndrome. J Clin Neonatol 2012;1:152-4.  Back to cited text no. 10
[PUBMED]  Medknow Journal  
Sarma N, Malakar S, Lahiri K. Unilateral proteus syndrome. Indian J Dermatol Venereol Leprol 2005;71:122-4.  Back to cited text no. 11
[PUBMED]  Medknow Journal  
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.  Back to cited text no. 12
[PUBMED]  Medknow Journal  


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

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