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Abstract
Research in Pediatrics & Neonatology
The Role of Mutations on Genes AKT1, PTEN, GPC3, PIK3CA, In Proteus Syndrome
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Open or CloseShahin Asadi*
Director of the Division of medical genetics and molecular optogenetic research, Medical Genetics-Harvard University
*Corresponding author: Shahin Asadi, Division of medical genetics and molecular pathology research, Harvard University, Boston children hospital, USA
Submission: February 18, 2020; Published: February 25, 2020
ISSN : 2576-9200Volume4 Issue3
Abstract
Proteus syndrome is a rare condition that can be loosely categorized as a hamartomatous disorder. It is a complex disorder with multisystem involvement and great clinical variability. Once thought to have neurofibromatosis, Joseph Merrick (also known as “the elephant man” and studied by Treves in the 19th century) is now, in retrospect, thought by clinical experts to actually have had Proteus syndrome. This condition is characterized by various cutaneous and subcutaneous lesions, including vascular malformations, lipomas, hyperpigmentation, and several types of nevi.
Keywords: Proteus syndrome; Rare disease; Neurofibromatosis; Hamartomatous; AKT1; PTEN; GPC3; PIK3CA; Genes
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