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Year : 2003  |  Volume : 13  |  Issue : 3  |  Page : 285-290
Proteus syndrome with recurrent clavicular fractures


Department of Radiology, Guru Teg Bahadur Hospital and University College of Medical Sciences, Dilshad Garden, Delhi-110095, India

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Keywords: Proteus Syndrome, fracture, clavicle.

How to cite this article:
Rathi V, Bhargava S K, Arora A, Jain S. Proteus syndrome with recurrent clavicular fractures. Indian J Radiol Imaging 2003;13:285-90

How to cite this URL:
Rathi V, Bhargava S K, Arora A, Jain S. Proteus syndrome with recurrent clavicular fractures. Indian J Radiol Imaging [serial online] 2003 [cited 2020 Nov 28];13:285-90. Available from: https://www.ijri.org/text.asp?2003/13/3/285/28699

   Introduction Top


Proteus Syndrome (PS) is a rare complex hamartomatous disorder of unknown etiology with characteristic clinical and radiological findings. It was first recognized as a distinct entity in 1979 and was named in 1983 by Wiedemann and colleagues. It is named after the Greek sea god "Proteus" who could change appearance at will to avoid his enemies. "Proteus" reflects the polymorphous clinical expression of this syndrome.

Proteus Syndrome consists of an unusual constellation of abnormalities leading to grotesque overgrowth and facial disfigurement. It is characterized by partial gigantism of hands and/feet, asymmetry of limbs, cranial hyperostoses, macrocrania, verrucous epidermal nevi with variable distribution, subcutaneous hamartomatous tumors, varicosities, cystiform pulmonary abnormalities and distinctive plantar cerebriform hyperplasia [1][2][3][4][5][6]. It can affect any tissue or structure of the body. New findings are constantly being reported in Proteus Syndrome [7]. Fractures have rarely been reported in the medical literature on Proteus Syndrome [8] and our patient is the second such case in world literature.


   Case Report Top


The patient presented to the orthopaedic outpatient department at the age of 13 years with pain in the fingers of her right hand and inability to write properly. She had a grotesque physical appearance, was tall and had a long neck. There was a large lipomatous swelling overlying the root of her nose and bony protuberances in the frontal region of the skull [Figure - 1]. A keloid was present on her left nostril and her teeth were maloccluded. An irregular, hyperpigmented, keratotic lesion was seen extending from the right side of her neck and shoulder, along the medial aspect of the right arm and flexor aspect of the right forearm to the palm and dorsum of the right hand [Figure - 2]. Bizarre deformities and enlargement of multiple fingers and toes of both sides were seen [Figure - 3]a,b. A lipomatous swelling of approximately 4cm. diameter was present between the buttocks, below the coccyx. She had a leg length discrepancy and extensive varicosities in both lower limbs [Figure - 4].

Direct questioning and a review of her clinical records revealed that she had been born as the third child of healthy, unrelated Indian parents and had normal siblings. She had presented to the orthopaedics outpatient department at the age of 1 year with a fracture of the right clavicle due to a fall. Clinical examination at the time diagnosed a naevus unilateralis on her right arm. She also had non-tender swellings in both the hands, a depressed bridge of nose and hypertelorism. Radiographs of both hands had exhibited bone and soft tissue enlargement in the second, third and fourth digits of the right hand and the third and fourth digits of the left hand. The skull appeared normal. A diagnosis of Mafucci's Syndrome was entertained at that time.

At 6 years of age she again had a fall with fracture of the clavicle, this time on the left side. On examination she was found to have a long pigmented nevus on her right upper limb, multiple bony outgrowths and length discrepancy of the lower limbs. A skin biopsy had suggested an epidermal nevus. In addition to a fracture of the left clavicle, [Figure - 5]a radiographic examination showed dysplastic thoracic vertebrae ; bossing in the right fronto-parietal region of skull ; thickening of the soft tissues and enlargement of the metacarpals and phalanges of the second, third and fourth digits of the right hand and the third and fourth digits of the left hand ; bony protuberances arising from the proximal phalanges of these digits [Figure - 5]b ; and upper end of fibula projecting laterally with obliquity of the proximal metaphysis. A provisional diagnosis of Ollier's disease or Neurofibromatosis was given at that time.

Presently, her unusual physical appearance led to her referral for a complete skeletal survey [Figure - 6],[Figure - 7],[Figure - 8],[Figure - 9],[Figure - 10],[Figure - 11],[Figure - 12],[Figure - 13].

Plain radiograph of skull lateral view showed asymmetrical bossing of the skull bones with widening of dipole in the frontal bone, posterior parietal bone and occipital bone. Malocclusion of teeth was also seen [Figure - 6]. Lateral radiograph of the cervical spine showed dysplastic vertebrae with variable height and short spinous processes [Figure - 7]. On chest PA radiograph cystic changes seen were seen in the right lung field, while clavicles were normal [Figure - 8]. Scoliosis of the mid dorsal spine with megaspondylodysplasia especially at D10 to L2 vertebrae was present in radiographs of dorsolumbar spine [Figure - 9]. Radiograph of the pelvis AP view showed an android pelvis with bony projections along the superolateral acetabular margins and multiple phleboliths on the right side [Figure - 10]. AP and oblique radiographs of the hands showed soft tissue thickening with enlargement of all phalanges and metacarpals in the right second, third, fourth digits and left fourth digit with osteocartilaginous bodies seen projecting from the medial palmar aspect of their distal diametaphyseal regions. The left third digit was also elongated and curved with enlargement of its metacarpals and phalanges. Medial angulation of distal metaphyses and epiphyses of the lower ends of radii and ulnae was seen with elongation of the lower end of the left ulna [Figure - 11]. Plain radiographs of the foot AP view showed hallux valgus on the right side with changes similar to the hands, in bilateral second and third toes. An exostosis was seen in the right second toe [Figure - 12]. Plain skiagram of both knee joints AP view showed lateral angulation of both the heads of fibulae with downward sloping of its epiphyses and metaphyses laterally [Figure - 13].

This clinico-radiological profile helped to establish the diagnosis of Proteus Syndrome in our patient. A sonographic examination of the abdomen revealed an enlarged portal vein and left kidney. The spleen was normal in size but showed scattered minute echogenic foci (probably healed tubercular granulomas). Remainder of the abdominal organs were normal.


   Discussion Top


The Proteus Syndrome is a very rare hamartomatous disorder whose etiology is unknown. It is a disorder of tissue overgrowth characterized by multiple focal outgrowths that can affect any tissue and structure in the body. It is sporadic and chromosome analysis is normal [2]. It consists of protean manifestations and can present to the physician in multiple forms [1]. Some manifestation of the syndrome is almost invariably present from birth [2]. Patients may be newborns but cases first diagnosed at 33 years of age have also been reported.

Skeletal and soft tissue overgrowth may affect the face, part or the whole of one or both limbs and the trunk [2]. Major clinical features include partial gigantism of the hand and/feet, pigmented nevi, hemihypertrophy (partial or complete), subcutaneous tumors, osseous protuberances of the skull, accelerated growth and visceral anomalies [1].

Macrodactyly, as was seen in our patient, is particularly characteristic with distinctive cerebriform overgrowth of the plantar or palmar soft tissues [2]. Exchondroma like excrescences/bony masses are often evidence after the first few years of life [4]. Presence of "mocassin" lesions-connective tissue nevi of the soles of the feet-is a pathognomonic sign of Proteus Syndrome, when present [6].

A number of different cutaneous lesions occur, including epidermal nevi (linear and verrucous) and vascular nevi (portwine stains, angiomas, cavernous lymphangiomas). Varicosities may also be prominent as seen in our patient [2].

The development of hyperostosis or skull exostoses results in craniofacial appearances becoming progressively more bizzare with age [6].

Subcutaneous tumors range from hemangiomas, lymphangiomas and lipomas which are most frequently observed in Proteus Syndrome[7] to compound lipolymphangiohemangiomas[5].

Other neoplasms reported in the first and second decades of life involved the CNS, salivary glands, ovaries and testes. These include meningiomas, monomorphic adenomas of the parotid gland and ovarian cystadenomas [7]. Mesothelioma and yolk sac tumor of the testes have been reported in two young children with Proteus Syndrome [2]. Intraabdominal lipomas are not unusual findings [4].

Cystic pulmonary abnormalities reported in Proteus Syndrome [6] were also seen in our patient. Scoliosis and megaspondylodysplasia, seen in our patient, are common and if severe may contribute to restrictive pulmonary disease.

Renal abnormalities include a large kidneys with/without cyst ; vascular malformation e.g. hemangiomas ; and bilateral ureterctasis [6].

Ocular problems have been reported including enlarged eyes, nystagmus, retinal detachment, cataracts and epibulbar tumors.

Mental retardation and epilepsy have also been described in Proteus Syndrome.

New findings in Proteus Syndrome include blue sclerae, telecanthus, epiblepharon, endotropy, hemimegaly of optic nerve, occipital demyelination, compression of corpus callosum, craniosynostosis, thinning of cortical layers of long bones, talipes equinus, median nerve compression, cardiomyopathy, absence of superficial femoral vein, enlarged penis and clitoris, scrotal-like hypertrophy of labia and macroorchidism [7].

Before 1983, Proteus Syndrome was confused with other congenital hamartomatous disorders [3] with similar stigmata e.g. Klippel Trenaunay  Weber syndrome More Details (KTWS), Neurofibromatosis (NF) Mafucci's Syndrome, Banayan-Zonana Syndrome and macrodystrophia lipomatosa. KTWS consists of varicose veins, portwine hemangiomas and hypertrophy of soft tissues and bones usually limited to limbs. But it lacks cranial exostoses, subcutaneous tumors and palmar/plantar cerebriform hyperplasia found in PS.

NF can be ruled out on the basis of absence of family history, cafι-au-lait spots and neurofibromas in PS [1],[2]. Joseph Merrick, the Elephant Man, is now thought to have suffered from the Proteus Syndrome. He had macrocephaly, skull hyperostosis, long bone hypertrophy, plantar hyperplasia and thickened skin and subcutaneous tissues. In the past he was labelled as having neurofibromatosis, but there was no family history, no reports of cafι-au-lait spots and no histological evidence of neurofibromas [2].

Mafucci's Syndrome includes macrodactyly, limb hypertrophy and asymmetry but can be distinguished by the presence of enchondromas [2]. Banayan-Zonana Syndroma includes macrodactyly, subcutaneous lipomatosis and megalencephaly, but asymmetric growth, skull exostoses and epidermal nevi are absent [2]. In macrodystrophia lipomatosa there is only localised distal gigantism of hands or feet.

Management of Proteus Syndrome is difficult. Patients often need radical and disfiguring surgery at a young age [2]. Macrodactyly is managed by ablation rather than debulking. Osteotomies have been used to correct angular deformities. Rapid recurrence of deformities after corrective surgery or sudden overgrowth of the operative limb have been reported in Proteus Syndrome [3]. Psychological support for both the patients and relatives is vital [2]. Functional ability of the patient depends upon the severity of limb deformity and the presence of brain abnormalities. Although the genetic mechanisms are not fully understood, counselling should be offered. Parents of affected children can be reassured that the risk of recurrence appears to be low. However they have been two reports of possible parent to child transmission [2]. Life expectancy is unknown.

The bizarre physical appearances and radiographic abnormalities confirmed the diagnosis of Proteus Syndrome in our patient at the age of 13 years. A pubic fracture has been reported earlier [8], however the occurrence of recurrent clavicular fractures in Proteus Syndrome has been reported for the first time in literature.

 
   References Top

1.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. 1    
2.Child FJ, Werring DJ and du Vivier AWP. Proteus Syndrome : Diagnosis in adulthood. Br J Dermatol 1998 ; 139 : 132-36.   Back to cited text no. 2    
3.Demetriades D, Hager J, Nikolaides N, Malamitsi - Puchner A, Bartsocas CS. Proteus syndrome : Musculoskeletal Manifestations and Management : A Report of two cases. J Pediatr Orthop. 1992 ; 12 : 106-13.   Back to cited text no. 3    
4.Nishimura G, Kozlowski K. Proteus Syndrome (Report of Three Cases). Australas Radiol 1990; 34 : 47-52.   Back to cited text no. 4  [PUBMED]  
5.Costa T, Fitch N, Azouz EM. Proteus Syndrome : Report of Two Cases With Pelvic Lipmatosis. Pediatr 1985 ; 76 : 984-89.   Back to cited text no. 5  [PUBMED]  
6.Cohen MM Jr. Proteus syndrome : Clinical evidence for Somatic Mosaicism and Selective Review. Am J Med Gen 1993; 47 : 645-52.   Back to cited text no. 6    
7.del Rosario Barona-Mazuera M, Hidalgo - Galvan LR, de la Luz Orozco-Covorrubias M et al . Proteus Syndrome : New Findings in Seven patients. Pediatr Dermatol 1997 ; 14 : 1-5.   Back to cited text no. 7    
8.Velazquez Fragua R, Pascual - Castroviejo I [Proteus Syndrome : report of two cases] An Pediatr (Barc) 2003 May ; 58(5) : 496-501.  Back to cited text no. 8    

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V Rathi
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    Figures

[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7], [Figure - 8], [Figure - 9], [Figure - 10], [Figure - 11], [Figure - 12], [Figure - 13]



 

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