Neonatal Generalized Lymphatic Anomaly with Skin Involvement

Abstract

Generalized lymphatic anomaly (GLA) is a rare congenital disorder of lymphatic development, presenting with multiple lymphatic malformations in different organs and tissues. Here, we present a case of a female neonate prenatally diagnosed with foetal hydrops and a mediastinal cystic lymphatic malformation that showed postnatal expansive and infiltrative growth into the major airways, compromising mechanical ventilation and further management of the neonate. Complications that arose during surgical treatment of mediastinal structures led to the patient's death. Lymphatic malformations were also noted in the skin at birth. Furthermore, a skin biopsy performed immediately after birth and the autopsy revealed an extremely rare diagnosis of combined macrocystic and microcystic forms of GLA with skin involvement.

Keywords: Generalized lymphatic malformation; Lymphangioma; Lymphatic abnormalities; Neonate; Skin.

Fig. 1. (A) The fetal magnetic resonance imaging showing hydropic fetus. (B) Neonatal chest X-ray showing air-fluid level in the mediastinal cystic lesion. (C) Thoracic computed tomography scan. a: multicystic mediastinal mass, b: intrapulmonary subpleular lesions, c: ascites, d: subcutaneous oedema, e: left main bronchus.

Fig. 2. (A) The bullous skin lesions in both thighs and groins. (B) Two days after excision of one skin lesion (short arrows indicate surgical scar), the remaining bullous lesions (long arrow) are flattened, collapsed, a slightly uneven surface, and a pale-purple color. (C) Irregularly shaped, thin-walled, cystic, dermal and subcutaneous vascular channels (H&E, ×5). (D) Podoplanin (D2-40) immunopositivity indicates that endothelial lining of cystic spaces is lymphatic in nature (H&E, ×10).

Fig. 3. The mixed macro and microcystic mediatinal lesions. (A) A segment of the large mediastinal cyst wall partially coated with fibrin. Slit-like, irregularly shaped, vascular channels spread through the wall of the cyst to the surrounding mediastinal connective tissue (H&E,×5). (B) The D2-40 immunopositivity of the endothelial lining confirms the presence of abnormal lymphatic vessels (H&E, ×5). (C) Malformed lymphatic vessels are seen in the tracheal wall on the outer and inner side of the cartilage ring (H&E, ×5).

Fig. 4. The microcystic component of the generalized lymphatic malformation can be seen in the pleural and lung interstitium (H&E, ×2.5) (A), peripancreatic soft tissue (H&E, ×5) (B), mesocolon fatty tissue (H&E,×2.5) (C), and omentum (H&E, ×2.5) (D).