Radiological Imaging in Diagnosis of Proteus Syndrome

Abstract

Proteus syndrome is a rare hamartomatous condition with multisystem involvement and diverse clinical manifestations, common ones being hemihypertrophy of one or more body parts, presence of lipomas, cutaneous epidermal nevi and vascular malformations. Imaging plays a role in bringing out internal organ involvement and helps in differentiating this syndrome from other hemihypertrophy syndromes with vascular malformations like Klipppel-Trenauny syndrome, NF-1 and Bannayan-Riley-Ruvalcaba syndrome. X-rays reveal the musculoskeletal features associated with this syndrome. Cross sectional imaging modalities reveal the visceral involvement and the presence of tumours. Vascular malformations are a part of this syndrome and those in muscle or subcutaneous tissues are diagnosed with Doppler ultrasound while those in viscera are diagnosed by MRI. In the absence of genetic testing, the diagnosis of Proteus syndrome can be made with clinical and radiological criteria. We report the clinical and radiological findings in a patient of Proteus syndrome. Our case is unique as it showed certain features that have not been commonly mentioned in literature, such as benign retroperitoneal vascular tumour, discordant advanced bone age and associated hemihypertrophy of ipsilateral anterior and posterior abdominal wall.

Keywords

• cavernous haemangioma
• connective tissue nevus
• doppler
• epidermal nevus
• hemi hypertrophy
• lipoma