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|Year : 2005 | Volume
| Issue : 2 | Page : 122-124
Unilateral proteus syndrome
Nilendu Sarma, Subrata Malakar, Koushik Lahiri
Rita Skin Foundation, Kolkata, India
P. N. Colony, Sapuipara, Bally, Howrah - 711227, West Bengal
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.
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Sarma N, Malakar S, Lahiri K. Unilateral proteus syndrome.Indian J Dermatol Venereol Leprol 2005;71:122-124
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Sarma N, Malakar S, Lahiri K. Unilateral proteus syndrome. Indian J Dermatol Venereol Leprol [serial online] 2005 [cited 2020 Aug 7 ];71:122-124
Available from: http://www.ijdvl.com/text.asp?2005/71/2/122/14000
Proteus syndrome is a complex developmental abnormality that possibly reflects somatic mosaicism for a mutation that would be lethal in a non-mosaic state., Varied morphological presentations of hyper and hypoplastic alterations in the body are seen in this disorder. Such features may be present at birth but more commonly they appear to develop with progression of time. 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.
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.
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 and it was later modified by Darmstadt and Lane in 1994. According to those criteria, at least 13 points are needed for confirmation of diagnosis by those scoring systems. 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 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, mental deficiency, renal involvement, or some tumors.
The main differential diagnoses are Klippel-Trenaunay Weber syndrome, Bannayan- Riley syndrome (autosomal dominant, macrocephaly, capillary malformation, polyposis coli etc.),, 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), hemihyperplasia syndrome (multiple lipomas, cutaneous vascular overgrowth without any progressive overgrowth), and neurofibromatosis 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, base of cranium, one half of meninges, unilateral tonsillar hypertrophy, cholesteatomas, cystic bony lesions and exostoses of skull bones, many fibromatous lesions, hamartomas of eyes 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.
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