Maffucci’s syndrome in association with giant tubular adenoma of the breast: Case report and literature review

Dennis Mazingi,Chenesa Mbanje,George Jakanani,Godfrey I Muguti,Valentine Mandizvidza,Shingi Bopoto

doi:10.1016/j.ijscr.2019.09.012

Dennis Mazingi, Chenesa Mbanje + Show 4 more

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https://doi.org/10.1016/j.ijscr.2019.09.012

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Abstract

IntroductionMaffucci’s syndrome is a rare congenital, non-hereditary mesodermal dysplasia characterised by multiple enchondromas and vascular lesions. To our knowledge this is the first report of tubular adenoma of the breast in association with Maffucci’s syndrome. Presentation of caseWe report a 31-year-old female who presented with a large, ulcerated slow-growing painless breast mass. She had also sustained two pathological fractures during childhood as well as progressive deformity and limb shortening on the right side of the body. Skeletal survey revealed enchondromas exclusively on the right side in association with phleboliths. Excision of the breast mass was performed. Histological examination of the breast lesion revealed a diagnosis of tubular adenoma, core biopsy of the bony lesions confirmed enchondromas and a cutaneous haemangioma was excised from the abdominal wall. DiscussionTubular adenoma of the breast is a rare benign tumour. When large they may cause ulceration leading to diagnostic and management dilemmas. Patients with Maffucci’s Syndrome require lifelong surveillance for the development of malignancy. ConclusionTubular adenomas of the breast carry no risk of malignancy. However, malignancy remains high on the differential list when the skin is ulcerated. Ulceration can also be caused by pressure necrosis in benign tumours. This diagnostic dilemma can lead to unnecessarily radical surgery.

Highlights

Maffucci’s syndrome is a congenital, non-hereditary mesodermal dysplasia characterized by multiple enchondromas and vascular lesions [2]
We report a case of giant tubular adenoma of the breast and Maffucci’s syndrome in a 31-year-old female patient whom we managed at our teaching hospital
When the term has been used for fibroadenomas it describes those weighing more than 500 g, measuring more than 5 cm in size or that replace more than 80% of the breast volume [17]

Summary

INTRODUCTION

Maffucci’s syndrome is a rare congenital, non-hereditary mesodermal dysplasia characterised by multiple enchondromas and vascular lesions. To our knowledge this is the first report of tubular adenoma of the breast in association with Maffucci’s syndrome. PRESENTATION OF CASE: We report a 31-year-old female who presented with a large, ulcerated slowgrowing painless breast mass. She had sustained two pathological fractures during childhood as well as progressive deformity and limb shortening on the right side of the body. DISCUSSION: Tubular adenoma of the breast is a rare benign tumour When large they may cause ulceration leading to diagnostic and management dilemmas.

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Case report

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