Generalized lymphatic anomalies and review of the current management landscape: a case report and review of the literature

Abstract

Background: Generalized lymphatic anomaly previously known as diffuse systemic lymphangiomatosis is a rare multisystem congenital disease arising from the lymphatic system, and it is characterized by abnormal proliferation of the lymphatic channels in osseous and extraosseous tissues. It typically affects children or young adults. Although it is benign, it can be misdiagnosed as malignancy because of its diffuse and debilitating nature depending on the site of involvement. Due to its rarity, diagnosis is often delayed, leading to potential significant morbidity or mortality if vital organs are involved. Furthermore, its potential for multiorgan involvement with no curative treatment makes its management challenging.

Case presentation: We describe a case of a 35-year-old Caucasian female, who presented with epigastric pain and was subsequently extensively investigated at multiple tertiary centers by numerous specialists for query malignancy and metabolic bone disorder following incidental computed tomography imaging findings of multiple osteolytic lesions in the axial skeleton, and low-attenuating lesions in the axilla, spleen, and mediastinum. The diagnosis was confirmed with an axillary excisional biopsy. She was clinically stable with no end organ damage. She was monitored conservatively.

Conclusions: The case illustrates the importance of increased awareness among clinicians for this rare congenital disease to enable earlier diagnosis and to avoid unnecessary invasive investigations. Furthermore, this case highlights the potential need for multiple biopsies of affected sites to confirm diagnosis. We also discuss the emergence of interferon therapy, chemotherapy, immunosuppression, and immunotherapy as medical management for this condition.

Keywords: Case report; Diffuse systemic lymphangiomatosis; Generalized lymphatic anomalies; Generalized vascular anomalies; Lymphangioma; Lymphatic malformations; Multisystemic lymphangiomatosis.

Fig. 1

Contrast-enhanced CT chest demonstrating a mediastinal mass and osteolytic bone lesions. A Scout film from a CT chest showing widening of the mediastinum. B, C Contrast-enhanced CT chest coronal and axial views demonstrate a large anterior mediastinal low attenuating mass extending to the thoracic outlet (white arrows). D CT axial view through the superior mediastinum showing a left axillary low-attenuating lesion (grey arrow) and a well-defined osteolytic lesion in the manubrium (white arrow). E Sagittal view from the CT on bone window demonstrates numerous well-defined osteolytic lesions with sclerotic margins (white arrows) in multiple vertebral bodies. F Axial CT of the upper abdomen demonstrating numerous small splenic hypoattenuating lesions (black arrows)

Fig. 2

Whole body Tc99m-methylene diphosphonate (MDP) scan. There were no scintigraphic correlates to the numerous osteolytic lesions seen on CT and MRI. There was no evidence of hypermetabolic osseous metastases

Fig. 3

MRI demonstrating a large cystic mass in the anterior mediastinum (white arrows), a cystic lesion in the left axilla (grey arrow), as well as numerous bone and splenic lesions (white arrowheads). Axial and Sagittal T1 fat-saturated images prior to administration of gadolinium (A, B) and post-injection of gadolinium (C, D) demonstrate no features of enhancement of the mediastinal mass. Axial HASTE fat-saturated sequence (E), sagittal STIR (F), and axial T2 fat-saturated sequence (G) demonstrate cystic nature of mediastinal mass, axillary mass, and multiple hyperintense bone lesions involving the vertebra and iliac bones. H Axial HASTE fatsaturated sequence of the upper abdomen illustrates numerous small splenic hyperintense lesions (black arrows)

Fig. 4

Histology of the left axillary cystic lesion. A Dilated and cystic structures in the perinodal adipose tissue (low-power magnification). B Attenuated endothelial cells lining with no cytologic atypia indicated by the black arrow (high-power magnification)