A case of Proteus syndrome (elephant man).

A 10-year old boy, product of a non-consanguineous parents presented with developmental delay and poorly controlled seizures. On examination he had features suggestive of atypical growth of the body. There were asymmetric overgrowth of the skull, downward slanting of the palpebral fissures with ptosis, an epibulbar dermoid in the right eye (Figure 1) and a bony tumour (hyperostosis) of the external auditory canal of the right ear. He also had hypoplasticity of the right enamel, thick skin with epidermal naevi and megalospondylodysplasia of the spine. Right upper and lower limbs showed asymmetrical growth and soft tissue hypertrophy over the plantar surface of the right foot. A CT scan of the head showed occipital infarction and hemimegalencephaly (Figure 2). Frequently normal at birth, the characteristic features of Proteus syndrome become obvious over the first year A case of Proteus syndrome (elephant man)