Proteus Syndrome Presenting with Multisystem Involvement: An Uncommon Case Report
Year: 2025
Type: article
Abstract: A post-zygotic mosaic mutation in the AKT1 gene causes the uncommon, progressive, and sporadic overgrowth disorder known as Proteus syndrome. Its defining feature is asymmetric tissue proliferation involving the skin, adipose tissue, connective tissue, and bone. Characteristic clinical manifestations include cerebriform connective tissue nevi, skeletal abnormalities, vascular malformations, and an increased risk of tumor development. Diagnosis is established through clinical criteria, imaging, and genetic confirmation from affected tissue. Management requires a multidisciplinary approach, including surgical correction, supportive care, anticoagulation, and emerging targeted therapies. We report the case of a 42-year-old man who presented to the Department of Dermatology, Venereology, and Leprosy, Government General Hospital, Kadapa, with complaints of progressive swelling of the left hand and difficulty lifting weights for one year. He also noted the development of multiple, verrucous hyperpigmented lesions over both hands and legs for the past month. Clinical evaluation revealed asymmetric overgrowth with verrucous skin lesions. Radiological studies confirmed skeletal hypertrophy, while dermatological findings were consistent with epidermal nevi. Proteus syndrome was diagnosed based on clinical features and supportive investigations, with multidisciplinary management instituted to optimize outcomes. This case underscores the importance of early recognition and highlights the rarity of adult-onset presentations
Author: C. Lavanya Thejonidhi*, Y. Bhargavi, M. Dinesh
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7078429177
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