Histopathological features of Proteus syndrome

Clinical and Experimental Dermatology
S E H HoeyN J Sebire

Abstract

Proteus syndrome is a rare, sporadic overgrowth disorder for which the underlying genetic defect remains unknown. Although the clinical course is well-described there is no systematic histopathological description of the lesional pathology. To describe the histopathological features encountered in a series of patients with Proteus syndrome from a single centre. Patients with Proteus syndrome who had undergone therapeutic surgical resection or biopsy were identified from a database and the histopathological findings were reviewed, with particular regard to descriptive features of the underlying tissue abnormality. There were 18 surgical specimens from nine patients, median age 4 years (range 1-9), classified into four main categories: soft-tissue swellings (lipomatous lesions), vascular anomalies (vascular malformation and haemangioma), macrodactyly (hamartomatous overgrowth) and others (sebaceous naevus and nonspecific features). In all cases, the clinical features of overgrowth were due to increased amounts of disorganized tissue, indicating a hamartomatous-type defect in which normal tissue constituents were present, but with an abnormal distribution and architecture. Vascular malformations represented a prominent category of...Continue Reading

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Citations

Sep 12, 2014·Annales de dermatologie et de vénéréologie·A GuilletS Barbarot
Nov 5, 2013·Trends in Cardiovascular Medicine·Eva M Sevick-Muraca, Philip D King
Jun 29, 2012·Journal of the American Academy of Dermatology·Catherine C McCuaigJulie Powell
Jun 15, 2010·Journal of the American Academy of Dermatology·Rudolf Happle
Mar 13, 2014·Blood·Sanja CosoTatiana V Petrova
Oct 22, 2016·The Journal of Pathology·Sandra D CastilloNeil J Sebire
Jun 2, 2020·Vestnik otorinolaringologii·I V StozhkovaS Ya Kosyakov
Apr 30, 2017·Molecular and Clinical Oncology·Minglin OuYong Dai
Jun 27, 2019·Scandinavian Journal of Immunology·Arja KaipainenMichael Fannon
May 19, 2021·Calcified Tissue International·Ali Al KaissiRudolf Ganger

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