INTRODUCTION

Cystic lymphatic malformations are anomalies in the development of lymphatic vessels, mostly congenital, affecting the skin, mucous membranes, or soft tissues. They may be macrocystic, microcystic, or mixed. Inflammatory episodes may occur following trauma or local infections on these malformations. Herein, we report the case of a patient presenting with scrotal mixed lymphatic malformation complicated by tuberculous infection, mimicking sarcoma. Tuberculous superinfection had previously been reported in the cases of acquired lymphangiectasia yet not in a mixed cystic lymphatic malformation (macro and microcystic). Additionally, the worrisome clinical appearance raised concerns for a sarcoma.

CASE REPORT

A young patient in their twenties, without any previous medical history, presented with a bilateral inguinoscrotal swelling that had been asymptomatic since childhood and had gradually been increasing in size. The clinical course was marked by several episodes of local infections, characterized by the discharge of pus and serous fluids. Additionally, the patient reported non-quantified weight loss and anorexia over the past two months, along with induration of the mass for the last eight months, leading to difficulty in walking and standing. A clinical examination revealed a voluminous subcutaneous mass in the right inguinoscrotal region, extending to the contralateral side, measuring approx. 15 cm (Fig. 1). The mass was firm in some areas and soft in others, topped with multiple translucent vesicles and papillomas of normal skin color, from which serous and lymphatic fluids emerged. Dermoscopy revealed lacunae with a hypopyon-like reddish appearance, associated with whitish-pink areas in some places (Fig. 2). The laboratory tests revealed lymphopenia with negative viral serologies. A thoracoabdominopelvic scan revealed a tumoral process involving the entire pelvis and active pulmonary tuberculosis lesions (Figs. 3a and 3b). Faced with this presentation, a surgical biopsy was performed, considering Kaposi’s sarcoma in its lymphatic component, benign progressive acquired lymphangioendothelioma, mixed lymphatic malformation, and finally, tuberculosis. The result favored a caseating-follicular tuberculosis (Fig. 4a) with lesions of cystic lymphangioma (Fig. 4b). The patient was treated for pulmonary tuberculosis at the health center for six months and declared cured, with the evolution marked by a decrease in the mass volume and its complete softening, becoming mobile. Follow-up MRI confirmed the presence of a malformation with a dual micro and macro cystic component in the T1 sequence after contrast agent injection (Fig. 5a) and in the T2 hypersignal sequence (Fig 5b). The patient underwent sclerotherapy with bleomycin for the superficial component and was considered for sirolimus therapy.

	Figure 1: Inguinoscrotal mass topped with vesicles and papillomas involving the right inguinoscrotal region with a tendency to bilateralization.
	Figure 2: Dermoscopic aspect: hypopyon-like appearance, reddish-violet lacuna, brown area without structures.
	Figure 3: Multiple central lobular pulmonary parenchymal nodules and micronodules creating the tree-in-a-bud appearance, accompanied by thick-walled cavitary lesions in the upper lobar region. a) Parenchymal window, axial section. b) Parenchymal window, coronal section.
	Figure 4: Histological image showing a giant cell granuloma with caseous necrosis (a) and cutaneous localization of a lymphangioma (b).
	Figure 5: Image of pelvic MRI showing an infiltrate composed of ill-defined microcystic structures, located in the supra- and subaponeurotic regions, involving bilateral inguinal areas. a) Coronal T1 FATSAT with contrast injection of gadolinium. b) Axial T2 hypersignal.

DISCUSSION

Cystic lymphatic malformations arise due to abnormalities in lymphatic development, comprising irregular vessels and diverse cystic dilations. These malformations exhibit varied morphologies, including macrocystic, microcystic, or mixed forms. Macrocystic lymphatic malformations present as subcutaneous masses that are round or lobulated, generally several centimeters in diameter, capable of compressing adjacent structures. Microcystic malformations consist of millimetric translucent or hemorrhagic vesicles, dispersed or grouped on skin that appears normal or on a firm plaque, known as lymphangiectasies. Lymphatic malformations may be mixed (macro- and microcystic), clinically manifesting as a subcutaneous mass topped with multiple translucent, sometimes hemorrhagic vesicles. The most frequent locations include the neck, proximal parts of the limbs, scapular region, and inguinal area [1]. Scrotal localization is less common, posing a challenge in the differential diagnosis with condylomas. These lesions may appear from birth or during early childhood. Moreover, some microcystic malformations may be acquired and develop at an advanced age, secondary to trauma, surgery, radiotherapy, or certain infections such as filariasis, donovanosis, or tuberculosis, constituting what is called acquired lymphangiectasia [2]. This condition is a rare disorder characterized by a simple dilation of surface lymphatic vessels. It must be distinguished from microcytic lymphatic malformation, which is a developmental defect in the dermal and deep subcutaneous lymphatic vessels, although they may appear similar clinically and histologically [3]. However, differentiation is possible based on the patient’s history, as lymphatic malformation is present from birth or early childhood, while acquired cutaneous lymphangiectases develop later and are associated with various causes [3–5]. Some case reports describe acquired idiopathic microcystic scrotal malformations [6–8]. In such cases, histology plays a crucial role in guiding the diagnosis and management. To date, no cases of late-onset mixed lymphatic malformation complicated by tuberculosis infection have been reported. The latter caused significant inflammation in the lymphatic vessels, leading to secondary fibrosis, clinically manifested by significant induration and, on imaging, by the presence of a tumor-like process invading the pelvis, mimicking a sarcoma. A surgical biopsy in such situations allows to establish the diagnosis and adapt therapeutic management. After fibrosis regression, the diagnosis of lymphatic malformation was further supported by MRI, distinguishing the subtype of malformation. The treatment of mixed lymphatic malformation is challenging due to the dual component, especially in such a particular localization as that in our patient. Sclerotherapy contributes to the regression of the macrocystic component, while surgical excision is particularly indicated for the microcystic component. mTOR inhibitors, with their immunosuppressive, antiproliferative, and anti-angio- and lymphangiogenic properties, have shown satisfactory responses in the literature for diffuse lymphatic malformation [1].

CONCLUSION

Mixed lymphatic malformations may become infected by tuberculosis, resulting in significant fibrosis. Clinically, scrotal involvement may present as a giant, firm, and fixed mass mimicking malignancy. A surgical biopsy was crucial in our case, revealing caseous-follicular granuloma, guiding appropriate therapeutic management. In a country endemic to tuberculosis, it is essential to always consider it in the presence of complicated dermatoses, which may also be indicative of an infection by Mycobacterium tuberculosis.

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