Proteus syndrome is a rare congenital condition with various clinical features such as hemihypertrophy, macrodactyly, subcutaneous masses, brain-like hyperplasia of the soles and/or palms, epidermal naevi and scoliosis with other mesodermal malformations. Multifocal overgrowth can affect various tissues causing severe functional and cosmetic disability, but intellectual and language development...

We report on a patient with NF1 microdeletion and clinical manifestations that fulfill the diagnostic criteria for neurofibromatosis type 1 but also presenting features reminiscent of Proteus syndrome.

A 37-year-old female presented with Proteus syndrome and was found to have an asymptomatic enlarged spleen. Pathology confirmed splenic lymphangiomatosis. We describe an association of these 2 disorders in the Middle Eastern population. Diagnosis and pathogenesis are discussed in this case report.

Obstructive sleep apnea syndrome (OSAS) is a common disorder in childhood with high prevalence in syndromic subjects with craniofacial malformations. Proteus Syndrome (PS) is a rare hamartoneoplastic disorder associated with disproportionate and asymmetric overgrowth of body parts and hypertrophy or malformation of lymphatic tissues, such as palatine tonsils. We report a case of a 12-year-old b...

an 18-year-old girl fulfilled the diagnostic criteria for the proteus syndrome (ps). here we report our findings in comprehensive general physical and ocular examination and review the literature focused on clinical manifestations and differential diagnoses. the patient had ‘mild’ involvement of the ophthalmic apparatus: absent foveal reflex, cataract, and abnormal retinal vessels, which in the...