Proteus syndrome

Introduction

The term proteus syndrome was coined by Wiedemann[1] in 1983 to stress the polymorphous and protean nature of its clinical manifestations. This syndrome was confused in the past with other conditions resulting in soft tissue hypertrophy which included neurofibromatosis,[2] and Klippel Trenaunay Weber syndrome. About 50 cases have been reported in the World literature and only two in Indian literature.[3],[4] However, the diagnosis of the first case has been contested.[5] We describe the second classical case of the rare hamartomatous disorder.

Case Report

A 2½-year-old male child born of nonconsanguineous marriage, presented with enlarged left middle and ring fingers since birth and multiple asymptomatic gradually enlarging swellings on the neck, upper back and axillae. The parents and the elder sibling were normal. At birth of the child, the father was 38 years old and mother 34 years old. Mother was being treated with oral carbimazole (5mg od) during the first trimester of pregnancy for primary thyrotoxicosis.

On examination, there was macrocephaly, frontoparietal bossing, hypertelorism, depressed bridge of nose and widened neck due to the presence of multiple lipomas.

Examination of the left hand revealed macrodactyly of middle and ring fingers with ulnar deviation. The right hand showed similar features but to a lesser extent. The palmar skin was thick, rugose, with mild gyriform convolutions, while the feet were normal.

In addition to this, the patient had :

1. 1. Multiple subcutaneous lipomas over the upper back, both supraclavicular areas and both axillae; some of the lipomas were large enough to distort the normal shape of the trunk.
2. 2. Multiple subcutaneous fibromas on lower trunk.
3. 3. Lymphangioma circumscriptum on skin overlying the left axillary lipoma.
4. 4. Linear verrucous epidermal naevus on left wrist extending to forearm.

X-ray skull revealed an enlarged skull vault with frontoparietal prominences. X-ray of both hands revealed ′macrodystrophia lipomatosa progressiva′ i.e., overgrowth of fibrofatty tissue. X-ray spine ruled out any spinal abnormality. USG abdomen and whole body CT scan ruled out any visceral pathology and spinal canal stenosis. Histopathology confirmed the clinical diagnoses of lipoma and lymphangioma circumscriptum.

Parents were counselled regarding the nature and future course of the disease. Large disfiguring subcutaneous masses were excised and regular follow up ensured for detection of potentially dangerous pressure symptoms.

Discussion

Proteus syndrome is a congenital hamartomatous disorder with protean manifestations. The clinical features were described in detail by Criton.[4] Samalaska[6]described 7 major diagnostic criteria viz, hemihypertrophy, macrodactyly, subcutaneous tumours, vascular naevi, epidermal naevi, exostoses and scoliosis. The presence of at least 4 of these 7 criteria is necessary for the diagnosis of this syndrome.

The first Indian case of proteus syndrome was described by George and Jacob.[3] However, it was contested by Abdul Razak on the ground that it was not fulfilling the criteria and the features were more in favour of Klippel-Trenaunay-Weber syndrome.

The course is variable and progressive. The onset is usually in the first year of life with few cases presenting at birth. Generally, there is a spurt of abnormal growth for few years which is followed by a relatively quiescent period.

There is no sexual predilection. Somatic mutation may be the cause of this entity. It may be associated with increased parental age as is evident in our instance. A mutational disorder following intake of an antithyroid drug during pregnancy has not been reported in the past. Whether the drug intake during first trimester of pregnancy was causative or incidental remains open for speculation. However this report may alert physicians about this possibility.