Proteus syndrome

Discussion:

The case illustrates typical clinical and radiological features of Proteus syndrome.

The presence of cerebriform connective tissue nevi on the palmar aspect of the feet which is pathognomonic and one of the most important major criteria for this disease. Also, the presence of other cutaneous manifestations such as linear epidermal nevi on the dorsum of the hand. Scoliosis and the asymmetrical overgrowth of the right lower limb and fingers are also considered minor criteria for this disease.

Radiological features are also characteristic of this disease. The presence of asymmetric skull overgrowth shows a fatty marrow signal which differentiates it from fibrous dysplasia. Also, the cerebral hemisphere underlying the skull overgrowth shows migrational disorder (polymicrogyria) which is a very common association.

Here, the skull thickening should also be differentiated from Dyke-Davidoff-Masson syndrome in which the underlying cerebral changes include atrophy and encephalomalacia, while in Proteus syndrome the cerebral hemisphere changes include hemimegalencephaly and brain migrational disorder (as seen in our case).

There's also asymmetrical enlargement of the left palatine tonsil.

Proteus syndrome occurs secondary to mutation of the AKT1 gene which leads to asymmetrical overgrowth of almost any part of the body. It's one of the overgrowth syndromes.

Proteus syndrome is an extremely rare disease with an incidence of less than one per million live births.

The first case was described in the 19th century by Sir Treves who described Joseph Merrick, the so-called “Elephant male” who was originally thought to have neurofibromatosis, yet recently it is believed he actually suffered from Proteus syndrome.

The disease was first described in the1980 British-American drama film (The Elephant Man).

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