Keywords
lung - rare disorders - pleural disease - thoracic duct
Introduction
Chylous leaks, such as chylothorax, are uncommon effusions in nontraumatic patients, resulting from leakage of the thoracic duct and its tributaries. Schimmelpenning syndrome is a rare neurocutaneous disorder characterized by one or more sebaceous nevi of the face or scalp, in association with anomalies of the central nervous system, ocular or skeletal pathology.[1] This article describes vascular malformations of Schimmelpenning syndrome and also lymphatic anomalies in very rare cases.[2]
Case Report
A 22-year-old male student, who was formerly diagnosed with Schimmelpenning syndrome, presented to the emergency room with shortness of breath and a feeling of pressure in the chest. Symptoms were aggravated 1 week prior to his admission. He had a 10-year history of right-sided leg lymphedema ([Fig. 1]) and his right eye had been enucleated because of a teratoma at the age of 1. The patient's skin showed multiple efflorescences suggestive of sebaceous nevi. Chest X-ray showed a right-sided pleural effusion ([Fig. 2]). The patient was initially treated with a chest tube, which drained 2,000 mL chylous effusion and persisted despite parenteral nutrition. Computed tomography (CT)-lymphography revealed a leakage of the thoracic duct at the midthoracic level. The patient underwent thoracotomy with ligature of the thoracic duct, and radical pleurectomy of the right thorax. Because of severe postoperative nausea and vomiting, a brain scan was done which showed hypotrophy of the left hemisphere with enlarged subarachnoid spaces but no signs of increased intracranial pressure.
Fig. 1 Right-sided leg lymphedema with marked distension and local swelling (stasis edema).
Fig. 2 Posteroanterior and lateral chest roentgenogram demonstrating pleural effusion.
Despite additional treatment with the long-acting somatostatin analogue octreotide, chylous effusion continued at 2,000 mL/day. A repeated CT-lymphography showed the thoracic duct ligated and a small collateral flow of chylous fluid toward the chest wall and entering the thorax ([Fig. 3]). Interventional treatment by lymphatic embolization was impossible due to the dysplastic and ectatic lymphatic vascular system. Eventually, radiation therapy was administered at segment T9 to T12 with 36 Gy and subsequently the chest tube could be removed.
Fig. 3 Computed tomography-lymphography showing the thoracic duct ligated and a leakage at the midthoracic level.
Five months later, the patient was readmitted in the hospital with a bleeding skin lesion located at the right calf. Histology of the resected specimen confirmed an epitheloid angiosarcoma of the skin ([Fig. 4]).
Fig. 4 Angiosarcoma developed at the lower right leg.
During the course, the patient did well for 4 months but was then admitted to the intensive care department with severe exsiccosis, and dyspnea from chylous thoracic effusion and chylous ascites, and cachexia. Despite all supportive efforts, the patient succumbed due to renal insufficiency and septicemia.
Comment
Schimmelpenning syndrome is considered a rare disease, and is listed in the US-registry of the National Organization for Rare Disorders. It has been proposed that Schimmelpenning syndrome results from genetic mosaicism, with underlying genetic mutations of the HRAS gene and KRAS gene.[3]
The term Schimmelpenning syndrome has been widely used since 1962 and describes the classic triad of sebaceous nevi, seizures, and mental retardation.[4]
[5] However, further studies revealed additional anomalies in the affected patients, and thus the diagnostic definition by the three symptoms was relativized.[6]
Also, vascular anomalies, such as hemangiomas or nevus flammeus, have been described, with the term Schimmelpenning syndrome being used nosologically imprecise.[7]
Lymphatic malformations are equally rarely seen and documented within a review of the literature in 3 of 119 patients. To our knowledge, only Greene et al[2] reported two patients with chylothorax in a series of nine patients with Schimmelpenning syndrome.
The basic principles of chylothorax treatment include efficient drainage, complete lung expansion by chest tube drainage, and reduction of the chylous flow by dietary and medical treatment. Surgical options by video-assisted thoracic surgery or thoracotomy include ligature of the thoracic duct and pleurodesis by intrapleural irritants. However, in postoperative chylothorax up to 11% of the patients underwent repeat surgical procedures due to complications, and 9 to 15% experienced recurrences.[8]
[9]
In recent years, percutaneous embolization[10] and radiotherapy[11] have been suggested as further treatment options to avoid invasive procedures and as an alternative in recurrent chylothoraxes to obliterate the thoracic duct and adjacent lymphatic vessels.
In previous years, surgical excision of the sebaceous nevus was considered the treatment of choice to prevent malignant degeneration; at present, such prophylactic measures are not considered necessary, as the estimated rate of malignant transformation seems to be low.[12] In our case, an angiosarcoma developed out of a preexisting cutaneous lesion. This underlines the importance of close clinical observation of the cutaneous lesions in Schimmelpenning syndrome.
In conclusion, ectatic dysplastic lymphovenous malformations with lymphatic collateral flow in Schimmelpenning syndrome made ligation of the thoracic duct for chylothorax difficult. Alternative measures for lymphatic obliteration, such as local radiation therapy, are feasible. Close observation of concomitant symptoms is warranted.
