- Cerebriform connective tissue nevi (83%). average age onset 2 years.
- Linear epidermal nevi (67%)
- Patchy dermal hypoplasia (21%)
- Cutaneous Lipomas (92%)
- Vascular Malformations (88%)
- Somatic activating mutation in the AKT1 gene, which encodes an enzyme mediating cell proliferation and apoptosis.
A congenital, lobulated, ceribriform mass on the sole of the foot is characteristic of the Proteus syndrome. Other features include hemihypertrophy, macrodactyly, mesodermal hamartomas (e.g.lipoma, fibroma, lymphangioma, hemangioma),exostoses, epidermal nevi, patchy dermal hypoplasia and scoliosis. The patchy dermal hypoplasia is characterized by a large area of slight dermal hypoplasia with an irregular outline. A sharp midline demarcation and/or prominent venous vasculature may be noted. The cerebriform collagenoma may also occur as an isolated plantar lesion.
Proteus Syndrome Foundation
Indian Dermatology Online Journal 2015;6:348-51
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