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Big Foot: A Case of Proteus Syndrome.

Author

Crisha J. Barros,
Cindy C. Llego

Related Institution

Department of Pediatrics - Northern Mindanao Medical Center - Department of Health

Publication Information

Publication Type
Journal
Publication Sub Type
Journal Article, Original
Title
Northern Mindanao Medical Journal
Frequency
Biennial (every 2 years)
Publication Date
July-December 2017
Volume
3
Issue
1
Page(s)
38-48

Abstract

Objective: To present a case of Proteus Syndrome and to discuss its etiology, pathophysiology, features, diagnosis, management and complications in order to improve early recognition and interdisciplinary management for future cases.


Case Summary: The patient was born with unusually large 3rd to 5th digits of the left foot and 1st to 5th digits of the right foot; pinkish patch at the left lateral aspect of the trunk; and palpable, soft, movable masses on the anterior left hemiabdomen, right flank area and right buttock. The progressive irregular growth and shape of the patient's feet prevented the use of regular shoes prompting consult. The patient underwent several surgical corrections--transmetatarsophalangeal joint amputation, tenodesis of right and soft tissue resection of the affected area under general anesthesia.


Discussion: Overgrowth syndromes are genetic disorders in which there is an abnormal increase in the size of the body or a body part that may be noted at birth. These syndromes have overlapping clinical manifestations and have no established genetic tests for their diagnosis. The patient's clinical manifestations fulfilled the criteria for Proteus Syndrome, which is a rare, sporadic overgrowth syndrome characterized by progressive overgrowth of tissues, skin vascular malformations, or epidermal nevi in mosaic distribution.


Conclusion: An interdisciplinary approach is important in managing a case of Proteus Syndrome bringing together surgeons, pediatricians, geneticist, hematologist, dermatologist, physiatrist, pulmonologist and physical/occupational therapists. Frequent follow-up visits are needed to avoid possible life-threatening and distorting complications.

Physical Location

LocationLocation CodeAvailable FormatAvailability
Professional Education and Training Office, Northern Mindanao Medical Center tro_nmmc@yahoo.com Fulltext Print Format

 
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