Recurrent Inflammation from Adult-Onset Lymphatic Malformation: A Management Conundrum Recurrent infections from lymphatic malformation
Abstract
Background: Breast lymphatic malformation is a rare condition that may pose a diagnostic dilemma and result in debilitating outcomes for the affected patient.
Case Presentation: We present a case of adult-onset breast lymphatic malformation complicated by recurrent inflammation, which posed a clinical conundrum. A 33-year-old female from Papua New Guinea, previously well, with no family history of cancer, first presented with a 6-year history of persistent left breast skin nodules and recurrent inflammation. She was previously extensively evaluated and treated overseas. However, all results were indeterminate and showed mainly inflammatory infiltrates with no infective cause. The patient notably had undergone the excision of the left chest wall lump when she was 7. She presented to our center with warty nodules and clear frogspawn-like vesicles over her left breast. She was reviewed by a multidisciplinary vascular malformation team, and multimodality imaging showed no evidence of breast cancer with possible lymphangiectasia. Excision biopsy of the left breast cutaneous nodule was performed, and histology showed lymphangiomatous proliferation of superficial dermal lymphatic vessels with PIK3CA Exon 10.c.1636C>Ap(Gln546Lys) mutation. Lymphoscintigraphy demonstrated absent left breast lymphatic channels. The patient was counselled on various management options and eventually decided on medical management with sirolimus.
Conclusion: Adult-onset breast lymphatic malformation is extremely rare, with varying clinical presentations. We present a novel case associated with PIK3CA Exon 10.c.1636C>Ap(Gln546Lys) mutation that posed a clinical perplexity and was misdiagnosed for many years. A multimodal and multidisciplinary approach may be required to aid in the diagnosis and management of this condition.
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