Unilateral generalized hypertrichosis in proteus syndrome

Introduction

Proteus syndrome is a congenital hamartomatous syndrome characterised by a variety of malformations. In 1989 Samalaska et al,[1] identified the commonest anomalies in Proteus syndrome as hemihypertrophy, macrodactyly subcutaneous tumours, plantar or palmar masses, epidermal nevi, exostoses and scoliosis. Happle et al,[2] suggested patchy dermal hypoplasia as another common feature.

The first Indian report of Proteus syndrome was by George and Jacob in 1993.[3] More cases have subsequently been reported.[4],[5] Here we describe a patient with Proteus syndrome who also had unilateral generalized hypertrichosis.

Case Report

A 29 - year -old lady, mother of two children was seen for unilateral overgrowth of hair and asymmetry of the body. She was born of nonconsanguinous marriage of healthy parents. Mild facial asymmetry was noticed from early childhood. Other changes became prominent by puberty. There was no family history of any malformations. Except for a history suggestive of vascular headache and occasional low back ache, she did not have any other symptoms. On examination, the entire right half of the body was moderately hypertrophic, more marked on the limbs. The bulk of the upper limb and lower limb was more on right side by about 0.5 to 2 cm and 2 to 4 cm respectively. The right upper limb was longer by 1.5 cm and right lower limb by 3cm, with a proportional increase of proximal and distal parts. She had scoliosis of upper throracic spine to left side. A subcutaneous swelling suggestive of lipoma was present on right parietal region of scalp. Adjacent area on the left side was depressed and atrophic, suggestive of patchy dermal hypoplasia. There were lipoma - like subcutaneous masses on the right side of anterior abdominal wall. Margins of right heel and plantar, medial and dorsal aspects of right big toe showed a soft tissue hyperplasia with a verrucous appearance [Figure - 1]. This resulted in macrodactyly of the right big toe. Most of the right side of body was covered with thicker, longer and darker terminal hairs [Figure - 2]. Systemic examination and

haematological and biochemical investigations were normal. Radiological and ultrasonological investigations did not reveal any other abnormalities.

Discussion

Though the main concern of our patient was the striking, unilateral hypertrichosis, a careful examination revealed a number of malformations. These consisted of hemihypertrophy, scoliosis, subcutaneous swellings, patchy dermal hypoplasia, plantar hyperplasia and macrodactyly. This combination of findings suggested the diagnosis of Proteus syndrome.

The unique feature of our patient was the unilateral generalized hypertrichosis. The unilateral distribution ruled out hirsutism, endocrine anomalies and other systemic diseases. Nevoid hypertrichosis is typically localized and associated with a hyperpigmented nevus.[6] So it is best considered as a component of Proteus syndrome in this patient. To the best of our knowledge, unilateral generalized hypetrichosis has so far not been reported as a feature of Proteus syndrome.

Happle et al,[2] suggested ′twin spotting′, resulting in hyperplasia and hypoplasia of various tissues as the pathogenetic machanism in Proteus syndrome. Unilateral hypertrichosis in our patient could be due to the involvement of hair follicle structures in this process.

In our patient except for hypertrichosis, most of the features of Proteus syndrome were of a mild to moderate severity. On the other hand, most of the previously reported cases of Proteus syndrome had more prominent features. It could be assumed that many subtle forms of Proteus syndrome do exist and the condition may not be as rare as generally believed.