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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 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. DISCUSSION: Tubular 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. CONCLUSION: Tubular 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.
RESUMO
BACKGROUND: Acute Fatty Liver of Pregnancy (AFLP) is a rare, catastrophic disease affecting women in the third trimester of pregnancy or in the post-partum period. It is usually a diagnosis of exclusion and requires a strong index of suspicion for a timely diagnosis and prompt intervention. CASE PRESENTATION: We report a case of AM, an 18 year patient, in her first pregnancy at 35 weeks gestation who presented with nausea, vomiting and jaundice. She had a vaginal delivery following spontaneous preterm labour. A clinical diagnosis of acute fatty liver of pregnancy was made on the 3rd day post-delivery. The post-delivery course was complicated by a deterioration of clinical symptoms with worsening hepatorenal function and development of encephalopathy. The patient died 3 days after admission and the diagnosis was confirmed on post-mortem and histology. CONCLUSION: Delay in the diagnosis is associated with morbid complications with high mortality and this case highlights the importance of a high index of suspicion of the condition in women presenting with jaundice in pregnancy.
