Work

Pulmonary Involvement in Proteus Syndrome: Clinical and Imaging Correlates in a Rare Case

Year: 2026

Type: article

Abstract: Proteus syndrome is an uncommon, sporadic disorder characterized by progressive and heterogeneous overgrowth of tissues, resulting in distorted and asymmetric development. In most individuals, Proteus syndrome has minimal to no manifestations at birth but progresses during childhood and adolescence. Clinical manifestations of the disease include isolated asymmetric hemihyperplasia, isolated asymmetric macrodactyly, subcutaneous masses, plantar and palmar cerebriform fibrous overgrowth, exostoses, epidermal nevi, and scoliosis. Cardiothoracic structures are less commonly involved, and the manifestations include cystic lung changes, pulmonary thromboembolism and varicosities, and pulmonary nodules. Patients with Proteus syndrome have an increased risk of early death due to deep venous thrombosis and pulmonary embolism. We report a case of an adult female who was diagnosed with Proteus syndrome at the age of 5 years who had multiple pulmonary manifestations of the disease.

Source: Case Reports in Radiology

DOI: 10.1155/crra/9944074

Authors: Cody Reid Johnson, Syed Muhammad Awais Bukhari, Amit Gupta

Institutions: University Hospitals of Cleveland, University Hospitals Cleveland Medical Center, Case Western Reserve University

Language: English

Topic: Tuberous Sclerosis Complex Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $790