Proteus Syndrome: Case Report with Anatomopathological Correlation

Abstract

Background: Proteus syndrome is characterized by a progressive segmental or patchy growth of bone, skin, adipose tissue, and central nervous system, associated with a wide range of neoplasms, pulmonary pathology, and thrombotic risk. The main histological findings are diffuse patchy overgrowth of skin and subcutaneous tissue, plantar cerebriform connective tissue nevus, and ossification defects. Case report: We present a patient that met the clinical and histological criteria necessary for the diagnosis of the disease. He required multiple surgical interventions, including amputation of the right foot. Genetic evaluation confirmed an AKT1 mutation. Discussion: CLOVES syndrome, neurofibromatosis 1 or PTEN hamartoma tumor syndrome are partially superimposable entities to Proteus syndrome and may generate diagnostic doubt. Although the clinical criteria and histologic findings are indicative, the diagnostic confirmation of this entity is genetic.

Keywords:

• Proteus
• Syndrome
• pediatric
• plantar cerebriform connective nevus
• lobular adipose hyperplasia

Informed consent

Prior to the submission of this article, verbal and written informed consent was obtained from the legal guardians of the patient whose clinical photographs are included in this publication. The patients’ medical records were accessed in accordance with the specific hospital regulations applicable to this type of case.

Institutional review board

The institutional review board of our center evaluated the case and exempted it from a formal evaluation because it was an isolated clinical case of a descriptive nature.

Disclosure statement

None of the authors have anything to disclose.

Additional information

Funding

There is no external funding to declare.