A gene missense mutation in diffuse pulmonary lymphangiomatosis with thrombocytopenia: A case report.

INTRODUCTION: Diffuse pulmonary lymphangiomatosis (DPL) is a rare condition. Most patients with DPL present dyspnea, cough, expectoration, and hemoptysis. There are few reports of DPL accompanied by thrombocytopenia, whose cause remains unknown. PATIENT CONCERNS: An 18-year-old male patient presented with recurrent cough, expectoration, and dyspnea for 5 years, and thrombocytopenia was observed during a 2-month follow-up. DIAGNOSIS: Chest computed tomography showed diffuse patchy shadows in both lungs, and pleural and pericardial effusions. Immunohistochemical lung tissue staining showed lymphatic and vascular endothelial cells positive for D2-40, CD31 and CD34. Routine blood test revealed platelets at 62 × 10 cells/L during follow-up. Bone marrow biopsy was normal. Ultrasound revealed no hepatosplenomegaly. Finally, the patient was diagnosed with DPL accompanied by thrombocytopenia. INTERVENTIONS: He was treated by subtotal pericardial resection, thoracocentesis, and anti-infective therapy. Oral prednisone was administered for 2 months. OUTCOMES: The symptoms of cough and shortness of breath were improved, but thrombocytopenia persisted. We investigated the cause of thrombocytopenia. Whole-exome sequencing identified a mutation in exon 3 of the TNFRSF13B gene in this patient. CONCLUSION: DPL may present with thrombocytopenia and DIC. Patients with thrombocytopenia but not DIC and splenomegaly should be screened for gene mutations.

A 34-Year-Old Man With a Chylothorax and Bony Pain.

CASE PRESENTATION: A 34-year-old man presented to a community hospital with sudden-onset pleuritic chest pain on a background of a 12-month indolent history of progressive exertional dyspnea. He denied cough, fevers, night sweats, or weight loss. He reported some low back pain and ache. He had a history of gastroesophageal reflux and was a current smoker with a 20-pack year history. There were no known occupational or environmental exposures and there was no family history of any lung disease.

[Clinical characteristics of Kaposiform lymphangiomatosis: a report of 8 cases].

Objective: To investigate the clinical symptoms, treatment intervention and prognosis of Kaposiform lymphangiomatosis(KLA). Methods: Medical information and clinical characteristics data of 8 KLA patients who were admitted to Department of Pediatric Surgery of West China Hospital of Sichuan University from January 2016 to February 2019 were retrospectively reviewed and analyzed. There were 5 males and 3 females with age of 5.8 years old (from 8 months to 29 years old). Results: The lesions in all patients were diffusely distributed. In all 8 patients, the lung and mediastinum were involved with different degrees. Three cases had lesions involving pelvic and abdominal organs. Three cases had lesions involving bones. One case simultaneously involved pelvic and abdominal organs, and 1 case was involved laryngeal and neck. The clinical characteristics were mainly respiratory symptoms. In the laboratory tests, 6 patients had different degrees of thrombocytopenia (minimum 3 × 10(9)/L), and 4 patients had severe fibrinogen reduction (minimum 0.42 g/L). Three patients had prolonged activated partial thromboplastin time (up to 64.2 seconds) and 3 patients had prolonged prothrombin time (up to 18.6 seconds). After surgery (including thoracotomy, chest tube, pericardiocentesis, splenectomy) and empiric medicine therapy (vincristine, sirolimus and corticosteroid), the symptoms improved in 1 case, 2 cases died of complications, 2 cases were stable and 3 cases progressed up to February 2019. Conclusions: KLA is a rare disease that should be differentiated from other types of vascular diseases. Currently, there is no consensus treatment guidelines exist. Accurate diagnosis in KLA can be a challenge. The situation in patients with KLA is prone to rapid deterioration and progress. Future research efforts should seek to develop target-specific drugs for KLA.

Diffuse pulmonary lymphangiomatosis: A rare case report in an adult.

RATIONALE: Diffuse pulmonary lymphangiomatos (DPL) is a rare aggressive lymphatic disorder characterized by proliferation of anastomozing lymphatic vessels and extremely rare in adult patients. PATIENT CONCERNS: We report a case of diffuse pulmonary lymphangiomatosis in 59-year-old man presented with cough and sputum for 2 months. DIAGNOSES: Combining clinical manifestations with results of radiological, bronchoscopy, and surgical lung biopsy, it was consistent with the diagnosis of DPL. INTERVENTIONS: After bronchoalveolar lavage and biopsy, symptom of cough got worse suddenly accompanied by excessive chyloptysis. The patient received an emergency surgical intervention and low fat medium chain fat treatment. OUTCOMES: The patient was discharged with a much better health condition. LESSONS: This case report is the oldest patient reported in the English literature, to the best of our knowledge. Serious complications of bronchoscopy should be considered, especially in DPL patients with severely enlarged mediastinum or with thin-walled translucent vesicles under endoscopy.

Successful treatment of conjunctival lymphangiectasia accompanied by corneal dellen using a high-frequency radiowave electrosurgical device.

A 62-year-old man presented with a 1-month history of right eye pain unresponsive to artificial tears and topical steroids. At presentation, bullous yellowish fluid collection was noted in the nasal conjunctiva. Corneal thinning and opacity were observed at the 3 o'clock position of the cornea. High-frequency radiowave ablation and biopsy were performed at the affected area. Conjunctival lymphangiectasia was confirmed by excisional biopsy. An improvement in the degree of corneal dellen and chemosis was evident 1 week after ablation. Use of a high-frequency radiowave electrosurgical device may be a simple and effective treatment option for symptomatic conjunctival lymphangiectasia.

Acquired Lymphangiectasia of the Scrotum.

A 56-year-old man presented with multiple, skin-colored, raised eruptions of the scrotum that had been present for 2 years. Their onset had been gradual, and they had been increasing in size, resulting in cosmetic disfigurement. A year previously, he had been operated on for a bilateral vaginal hydrocele with partial excision and eversion of the sac (Jabouley method).1 There had been no extramarital or unprotected sexual contact, other hospitalizations, or major surgery, swelling of the legs, or long periods of incumbency. Cutaneous examination revealed multiple, discrete and/or coalescing verrucous papules distributed on the upper portion of the scrotum and associated with edema of the penis (Figure 1). The inguinal lymph nodes were not enlarged. Complete blood counts and ultrasonography of the abdomen were normal. Tissue sections stained with hematoxylin and eosin showed hyperkeratosis and multiple ectatic vessels, primarily confined to the papillary dermis, abutting the overlying epidermis, and demarcated by a single endothelial lining. The dilated vessels contained homogenous eosinophillic material (Figure 2).

Lymphangiomatosis: a rare entity presenting with involvement of the sacral plexus.

Lymphangiomatosis is an uncommon disease process characterized by multisystem lymphatic malformations that can involve numerous body systems, including organs, muscles, soft tissues, and bones. Involvement of the nervous system is rare and has even been previously described as a site of sparing. We present a case of a 24-year-old female with known lymphangiomatosis, presenting with acute onset of lower extremity paresthesias, weakness, and new urinary retention. MRI of the pelvis revealed lymphangiomatosis of the sacral plexus, which has not been previously reported. We will review the clinical and imaging manifestations of lymphangiomatosis and provide a differential diagnosis for masses of the lumbosacral plexus. Although lower extremity pain and weakness encountered in the emergency department or outpatient setting is most frequently caused by lumbar spine pathology, occasionally, abnormalities of the lumbosacral plexus may prove to be the cause. While peripheral nerve sheath tumors lead the differential diagnosis of tumor or tumor-like entities involving the lumbosacral plexus, lymphangiomatosis is a rare differential consideration.

Hyperplasia of Lymphoid Follicles and Lymphangiectasia in the Parietal Pleura in Bucillamine-induced Yellow Nail Syndrome.

Yellow nail syndrome (YNS) pleurisy is often difficult to control, and pathological examinations have rarely been reported. We herein report a case of bucillamine-induced YNS in which histopathology of the parietal pleura revealed hyperplasia of the lymphoid follicles and lymphangiectasia. Even after the discontinuation of bucillamine, the pleurisy and lymphedema showed no change. Based on the histopathological findings showing similarity to rheumatoid pleurisy, we administered corticosteroid treatments, and both the pleurisy and lymphedema improved. The findings in the present case suggest that, in bucillamine-induced YNS, pleurisy may be related to inflammation caused by rheumatoid arthritis in addition to abnormalities in lymphatic vessels.

Waldmann's disease: a rare cause of protein losing enteropathy in an adult patient

Primary intestinal lymphangiectasia or Waldmann’s disease is an uncommon cause of protein losing enteropathy with an unknown etiology and is usually diagnosed during childhood. It is characterized by dilation and leakage of intestinal lymph vessels leading to hypoalbuminemia, hypogammaglobulinemia and lymphopenia. Differential diagnosis should include erosive and nonerosive gastrointestinal disorders, conditions involving mesenteric lymphatic obstruction and cardiovascular disorders that increase central venous pressure. Since there are no accurate serological or radiological available tests, enteroscopy with histopathological examination based on intestinal biopsy specimens is currently the gold standard diagnostic modality of intestinal lymphangiectasia. We report a rare case of a primary intestinal lymphangiectasia in a 60-year-old Caucasian female who presented with asymptomatic hypoalbuminemia and hypogammaglobulinemia. After the diagnosis of a protein losing enteropathy, the patient underwent an enteroscopy and biopsies were taken, whose histological examination confirmed dilated intestinal lymphatics with broadened villi of the small bowel. Secondary causes of intestinal lymphangiectasia were excluded and the diagnosis of Waldmann’s disease was recorded. The patient was put on a high-protein and low-fat diet with medium-chain triglyceride supplementation with improvement (AU)

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Protein-losing Enteropathy Caused by Intestinal or Colonic Lymphangiectasia Complicated by Sporadic Lymphangioleiomyomatosis: A Report of Two Cases.

This report describes two patients with sporadic lymphangioleiomyomatosis complicated by protein-losing enteropathy (PLE). Imaging studies indicated retroperitoneal lymphangioleiomyomas and abnormalities of the adjacent digestive tract. Endoscopic mucosal biopsy revealed colonic lymphangiectasia in one patient; whereas the site in the other patient was intestinal. Treatment with sirolimus led to the complete resolution of PLE within several months; additionally, marked shrinkage was observed in the lymphangioleiomyomas of both cases. These findings suggest that colonic or intestinal lymphatic congestion due to neighboring lymphangioleiomyomas was the mechanism for the development of PLE. At the time of writing this report, the beneficial effect of sirolimus has lasted for more than 3 years.

US-Guided, Direct Puncture Retrograde Thoracic Duct Access, Lymphangiography, and Embolization: Feasibility and Efficacy.

PURPOSE: To describe technical details, success rate, and advantages of direct puncture of the thoracic duct (TD) under direct ultrasound (US) guidance at venous insertion in the left neck. MATERIALS AND METHODS: All patients who underwent attempted thoracic duct embolization (TDE) via US-guided retrograde TD access in the left neck were retrospectively reviewed. Indications for lymphangiography were iatrogenic chyle leak, pulmonary lymphangiectasia, and plastic bronchitis. Ten patients with mean age 41.4 years (range, 21 d to 72 y) underwent US-guided TD access via the left neck. Technical details, procedural times, and clinical outcomes were evaluated. TD access time was defined as time from start of procedure to successful access of TD, and total procedural time was defined from start of procedure until TDE. RESULTS: All attempts at TD access via the neck were successful. Technical and clinical success of TDE was 60%. There were no complications. Mean TD access time was 17 minutes (range, 2-47 min), and mean total procedure time was 49 minutes (range, 25-69 min). Mean follow-up time was 5.4 months (range, 3-10 months). CONCLUSIONS: TDE via US-guided access in the left neck is technically feasible and safe with a potential decrease in procedure time and elimination of oil-based contrast material.

Acquired lymphangiectasia (lymphangioma circumscriptum) of the vulva: Clinicopathologic study of 11 patients from a single institution and 67 from the literature.

BACKGROUND: Acquired lymphangiectasia of the vulva (ALV) is a rare condition thought to be secondary to pelvic lymphatic obstruction. Although benign, this entity often occurs after previous malignancy and can be confused with conditions such as genital warts. We sought to clarify the clinicopathologic features of ALV by studying affected patients from our institution and from the existing literature. METHODS: We reviewed retrospectively the clinical and histopathologic characteristics of patients with ALV from our institution and performed an extensive literature search to identify all published cases of ALV. RESULTS: Eleven patients with ALV were identified from our institution. Three patients had Crohn disease, three had malignancies involving the pelvic region (rectal adenocarcinoma, cervical carcinoma, endometrial carcinoma), and three (two with pelvic malignancy) had previous radiation therapy. One patient had Proteus syndrome. Of 67 distinct cases of ALV identified in the literature, 41 (61%) had a history of malignancy. CONCLUSIONS: In any acquired or clinically unusual lymphatic process in the skin and soft tissues, a lesion or obstructive process of the draining lymphatics should be investigated.

A 42-Year-Old Woman With Abnormal Chest CT Scan and Chylous Ascites.

A 42-year-old white woman presented to the pulmonary clinic for evaluation of abnormal chest imaging. Twenty years prior to presentation, she was noted to have an abnormal chest radiograph during a routine preemployment evaluation. A subsequent bronchoscopy was nondiagnostic. She was followed up with annual imaging, which demonstrated little or no progression of her disease. She remained symptom free throughout this period. A year before her visit to the pulmonary clinic, she developed abdominal discomfort and was found to have ascites. Subsequently, she underwent three paracenteses with analysis revealing chylous fluid. She was a nonsmoker without a history of exposures or travel.

Lymphangiectatic Variant of Eccrine Spiradenoma - A Diagnostic Challenge.

Conventional eccrine spiradenoma is a benign, slow growing and painful tumor of the skin. While the tumor does not usually present a diagnostic dilemma, a rare variant with marked stromal lymphedema can be a challenge to interpret. We present a case of lymphangiectatic variant of eccrine spiradenoma in an 82-year-old white male who presented with a persistent left flank lesion for several months. The patient was initially asymptomatic and subsequently developed a suspected abscess that was excised to reveal a 6.5 cm subcutaneous mass. Microscopic examination reveals strands and cords of dark, epithelial, round to oval cells with inconspicuous nucleoli streaming between prominently dilated and congested vascular spaces. Within the cystic component there are small ductular structures. Additionally, prominent stromal lymphedema is present. To the best of our knowledge, there is only one reported case of this entity in the English literature. This case represents a diagnostic challenge and the purpose of reporting it is to alert surgical pathologists, dermatopathologists and dermatologists of the existence of this unusual variant of eccrine spiradenoma.