|
Indian Journal of Dermatology, Venereology and Leprology
Medknow Publications on behalf of The Indian Association of Dermatologists, Venereologists and Leprologists (IADVL)
ISSN: 0378-6323 EISSN: 0973-3922
Vol. 71, Num. 2, 2005, pp. 122-124
|
Indian Journal of Dermatology, Venereology, Leprology, Vol. 71, No. 2, March-April, 2005, pp. 122-124
Case Report
Unilateral proteus syndrome
Sarma Nilendu, Malakar Subrata, Lahiri Koushik
Rita Skin Foundation, Kolkata
Correspondence Address: P. N. Colony, Sapuipara, Bally, Howrah
- 711227, West Bengal
nilendusarma@yahoo.co.in
Code Number: dv05038
ABSTRACT
Proteus syndrome is a complex developmental abnormality. It is characterized by both hypertrophic and hypoplastic changes. Deformities have been occasionally found to be localized in one half of the body in head or digit but presence of all signs in one half of the body in a wide spread manner is not reported in the literature. We report the case for its unusual presentation of unilateral localization of signs.
INTRODUCTION
Proteus syndrome is a complex developmental abnormality[1] that possibly reflects somatic mosaicism for a mutation that would be lethal in a non-mosaic state.[2],[3] Varied morphological presentations of hyper and hypoplastic alterations in the body are seen in this disorder.[4] Such features may be present at birth but more commonly they appear to develop with progression of time.[5] Here we report a case in which most of her left half of the body was affected by different types of lesions of Proteus syndrome.
CASE REPORT
The patient, a 19 year old female with normal intelligence, presented
to the out patient clinic with facial asymmetry, pigmented linear marks
over the face, trunk, upper and lower limbs, erythematous spot over the
palm and enlarged left hand. On enquiry, only the erythematous spot was
present since birth. Other problems developed gradually from her age
of 3 years. None of the family members were affected.
On examination, she had asymmetrical overgrowth of the left half of the
face, left upper as well as left lower limb. There was an extensive linear
epidermal naevus, palmar port wine stain, and macrodactyly of both left
hand and left foot. The epidermal nevus was flat with only rough, hyperpigmented
and very slight verrucous surface. In some areas of the neck, its width
became widest, covering an area of 9 cm. It extended to cover all parts
of the body, unilaterally, with an average width of 2-3 cm extending
from chest, arm, forearm, fingers, abdomen and lower limb, at places
in more than one streak. The distribution of the nevus followed the Blaschko′s
lines. Her face, left upper and lower limb, left half of the trunk were
clinically hypertrophic in comparison to the opposite half [Figure
- 1].
Her left hand showed macrodactyly; skin over palmar and dorsal surfaces
had mild thickening although cerebriform thickening was not present [Figure
- 2]. There was one port wine stain (PWS) on the central part of
her left palm. There was no varicosity in the limbs or history of any
postural swelling of limbs or any attack of acute swelling. There was
no difference of temperature between the two halves of her body.
Clinically she did not have any spinal abnormality or pigmented lesions.
As all these findings were incidentally detected by us while examining
her for some unrelated complaints, she did not agree to any further investigations
like skin biopsy or radiology of the limb. There were no hypoplastic
changes, palpable soft tissue tumors, alopecia and nail changes.
DISCUSSION
The word ′Proteus′came from the name of Greek god Proteus
(proteus means polymorphous, thus came the word protean). Proteus had
the capacity to metamorphose into many types of monsters and wild animals
to discourage visitors.
Diagnosis of Proteus syndrome by scoring specific features had been proposed
by Hotamisligil in 1990[6] and
it was later modified by Darmstadt and Lane in 1994.[7] According
to those criteria, at least 13 points are needed for confirmation of
diagnosis by those scoring systems.[8] Our
patient had 13 points (macrodactyly and hemihypertrophy 5, palmar thickening
4, epidermal nevus 3, minor abnormality (PWS) 1), confirming the diagnosis
of Proteus syndrome.
The new criteria for diagnosis of Proteus syndrome[9] comprise
two sets - general and specific. General criteria are mandatory and include
mosaic distribution of lesions, progressive course and sporadic occurrence.
Specific criteria are shown in [Table
- 1].
Connective tissue nevus is a major specific (but not mandatory) criterion
and almost pathognomonic. To make the diagnosis of Proteus syndrome,
according to this system, the patient must have all three general criteria
and a specific number of ′specific criteria′i.e. either
one of category one, two of category two or three of category three.
There might also be minor anomalies like some ocular manifestations,[10] mental
deficiency, renal involvement,[11] or
some tumors.[12]
The main differential diagnoses are Klippel-Trenaunay Weber syndrome,[2] Bannayan-
Riley syndrome (autosomal dominant, macrocephaly, capillary malformation,
polyposis coli etc.),[9],[13] encephalocraniocutaneous
lipomatosis (characteristic nevus psiloliparus consisted of large, slightly
protuberant usually unilateral soft masses on scalp with complete alopecia,
skin colored papular eruptions on face with some bony and eye and neurological
changes),[14] hemihyperplasia
syndrome (multiple lipomas, cutaneous vascular overgrowth without any
progressive overgrowth),[9] and
neurofibromatosis[2] etc.
Unilateral involvement in Proteus syndrome is rare and in all the previous
reports, only the head, including the brain, facial tissues and the bony
structures were involved. Hemimegalencephaly, hemihypertrophy of maxilla,
mandible, condylar process,[15] base
of cranium, one half of meninges,[16] unilateral
tonsillar hypertrophy, cholesteatomas, cystic bony lesions and exostoses
of skull bones, many fibromatous lesions,[17] hamartomas
of eyes[18] all those have
been suspected or confirmed to be present in classical or variant of
proteus syndrome, were localized in the head. Other than these unilateral
changes of head, only other part of body reported to be affected unilaterally
was digit which presented clinically as unilateral macrodactyly. However,
there was sufficient doubt, even by the authors regarding the diagnosis
of the case as Proteus syndrome.
To the best of our knowledge this is the first reported case of unilateral
proteus syndrome.
REFERENCES
1. | Atherton DJ. Naevi and other developmental defects. In: Champion RH, Burton JL, Burns DA, Breathnach SM, editors. Rook/Wilkinson/Ebling Textbook of Dermatology. 6th Ed. Oxford: Blackwell Science; 1998. p. 519-716. Back to cited text no. 1 |
2. | Somatic mosaicism: OMIM database 176920, 149000,166000, 162200. Back to cited text no. 2 |
3. | Happle R. Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 1987;16:899-906. Back to cited text no. 3 |
4. | Happle R. Elattoproteus syndrome: Delineation of an inverse form of proteus syndrome. Am J Med Genet 1999;84:25-8. Back to cited text no. 4 |
5. | Sigaudy S, Fredouille C, Gambaelli D, Potier A, Cassin D, Piquet C, et al Prenatal ultrasonographic diagnosis in Proteus syndrome. Prenat Diagn 1998;18:1091-4. Back to cited text no. 5 |
6. | Hotamisligil GS, Ertogan F. The Proteus syndrome: Association with nephrogenic diabetes insipidus. Clin Genet 1990;38:139-44. Back to cited text no. 6 |
7. | Darmstadt GL, Lane AT. Proteus syndrome. Paediatric Dermatol 1994;11:222-6. Back to cited text no. 7 |
8. | Rao GS, Vohra D. Proteus syndrome with gingival hyperplasia. Int J Dermatol 2003;42:826-8. Back to cited text no. 8 |
9. | Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM Jr, Viljoen DL, et al. Proteus syndrome diagnostic criteria, differential diagnosis and patient education. Am J Med Genet 1999;84:389-95. Back to cited text no. 9 |
10. | De Becker I, Gajda DJ, Gilbert- Barness E, Cohen MM Jr. Ocular manifestations in Proteus syndrome. Am J Med Genet 2000;92:350-2. Back to cited text no. 10 |
11. | Sato T, Ota M, Miyazaki S. Proteus syndrome with renal involvement. Acta Paediatr Jpn 1995;37:81-3. Back to cited text no. 11 |
12. | Gordon PL, Wilroy RS, Lasater OE, Cohen MM Jr. Neoplasm in Proteus syndrome. Am J Med Genet 1995;57:74-8. Back to cited text no. 12 |
13. | Gujrati M, Thomas C, Zelby A, Jensen E, Lee JM. Bannayan- Zonana syndrome: A rare autosomal dominant with multiple lipomas and haemangiomas: A case report and review of literature. Surg Neurol 1998;50:164-8. Back to cited text no. 13 |
14. | Nowaczyk MJ, Mernagh JR, Bourgeois JM, Thompson PJ, Jurriaans E. Antenatal and post natal findings in encephalocraniocutaneous lipomatosis. Am J Med Genet 2000;91:261-6. Back to cited text no. 14 |
15. | DeLone DR, Brown WD, Gentry LR. Proteus syndrome: Craniofacial and cerebral MRI. Neuroradiology 1999;41:840-3. Back to cited text no. 15 |
16. | Haramota U, Kobayashi S, Ohmori K. Hemifacial hyperplasia with meningeal involvement: A variant of proteus syndrome? Am J Med Genet 1995;59:164-7. Back to cited text no. 16 |
17. | Raman R, Kumar V, Arianayagam S, Peh SC. A unilateral mesenchymal disorder. J Craniomaxillofac Surg 1989;17:143-5. Back to cited text no. 17 |
18. | Burke JP, Bowell R, O'Doherty N. Proteus syndrome: Occular complications. J Pediatr Ophthalmol Strabismus 1988;25:99-102. Back to cited text no. 18 |
Copyright 2005 - Indian Journal of Dermatology, Venereology, Leprology
The following images related to this document are available:
Photo images
[dv05038f1.jpg]
[dv05038t1.jpg]
[dv05038f2.jpg]
|