Conjunctival lymphangiectasia in a pediatric patient with neurofibromatosis type 1.

Conjunctival lymphangiectasia, a rare condition characterized by dilated lymphatic channels in the bulbar conjunctiva, generally develops as a consequence of a local lymphatic scarring or distal mechanical outflow obstruction following surgery, radiotherapy, neoplastic disease, or other disease processes. The actual cause often remains unknown. We report a case of a unilateral conjunctival lymphangiectasia in a 7-year-old girl with neurofibromatosis type 1 (NF-1) and discuss a possible association between the two entities.

Oral lymphangiectasia and gastrointestinal Crohn disease.

Lip edema with non-caseating granulomas or lymphangiectasia pose a clinical and pathological challenge. These findings can be attributed to cheilitis granulomatosa (CG), Melkersson-Rosenthal syndrome (MRS), or Crohn disease (CD) depending on the appropriate clinical context. Lymphangiectasis, in particular, is a common pathological finding in CD due to lymphatic obstruction by granulomas and intralymphatic granulomas. Because oral symptoms can precede gastrointestinal symptoms of CD or be seen in patients with asymptomatic gastrointestinal disease, the identification of lymphangiectasia should raise the possibility of underlying CD. We present a case of a young woman with several years of lip swelling, with notable lymphangiectasia and subtle granulomas on pathological evaluation. The patient was diagnosed with MRS at an outside institution and treated with systemic steroids, without further systemic evaluation. We believe that early recognition of lymphangiectasia and consideration of CD early in the work-up are critical for early diagnosis and appropriate management. Neither clinical nor histopathological findings should be used in isolation to diagnose GC, MRS, or CD as there is significant debate as to the etiology and overlapping findings of these conditions. We highlight the importance of lymphangiectasia in diagnosing underlying CD in the appropriate clinical context.

Localized acquired lymphangiectasias after breast surgery: Enhanced non-invasive diagnosis using dermoscopy and reflectance confocal microscopy.

BACKGROUND: Acquired lymphangiectasias represent cystic dilatations of the cutaneous lymphatic vessels resulting from damage and/or obstruction of previously normal lymphatics, usually secondary to surgery, radiotherapy, and/or infections. MATERIALS AND METHODS: The clinical, dermoscopic, and confocal microscopy features of three cases of acquired lymphangiectasias occurring after breast surgery are described along with histopathological correlations. RESULTS: Polarized dermoscopy revealed in all lesions the presence of well-circumscribed, white-yellowish lacunae surrounded by pale septa. In addition, some lesions showed scattered reddish areas and red lacunae. Confocal microscopy showed in the upper dermis numerous, roundish dark cavities separated by thin septa. These features corresponded histopathologically to saccular dilations and ectatic lymphatic vessels lined by a single layer of endothelial cells in the papillary/reticular dermis. CONCLUSION: The use of non-invasive diagnostic techniques may be addressed to an enhanced non-invasive diagnosis of acquired lymphangiectasias by showing peculiar features, thus avoiding the need for skin biopsy.

Renal Lymphangiectasia in the Transplanted Kidney: Case Series and Literature Review.

BACKGROUND: Renal lymphangiectasia is a rare and poorly understood lymphatic disease associated with lymphatic dilation and leakage. To our knowledge, no cases have been described in the context of a transplanted kidney. METHODS: We describe 2 cases of renal lymphangiectasia in transplanted kidneys, both from pediatric donors. RESULTS: The cases of allograft lymphangiectasia are characterized by severe, symptomatic ascites refractory to attempts at medical and surgical management, and ultimately requiring allograft nephrectomy. CONCLUSIONS: While lymphatic complications, particularly lymphoceles, are not uncommon in renal transplantation, lymphangiectasia is a distinct condition which should be considered in renal transplant patients with ascites, after all other sources have been ruled out.

Current and future role of fetal cardiovascular MRI in the setting of fetal cardiac interventions.

Over recent years, technical developments resulting in the feasibility of fetal cardiovascular magnetic resonance (CMR) have provided a new diagnostic tool for studying the human fetal heart and circulation. During the same period, we have witnessed the arrival of several minimally invasive fetal cardiac interventions (FCI) as a possible form of treatment in selected congenital heart diseases (CHDs). The role of fetal CMR in the planning and monitoring of FCI is not yet clear. Indeed, high-quality fetal CMR is not available or routinely offered at most centers caring for patients with prenatally detected CHD. However, in theory, fetal CMR could have much to offer in the setting of FCI by providing complementary anatomic and physiologic information relating to the specific intervention under consideration. Similarly, fetal CMR may be useful as an alternative imaging modality when ultrasound is hampered by technical limitations, for example, in the setting of oligohydramnios and in late gestation. In this review, we summarize current experience of the use of fetal CMR in the diagnosis and monitoring of fetuses with cardiopathies in the setting of a range of invasive in utero cardiac and vascular interventions and medical treatments and speculate about future directions for this versatile imaging medium.

Vulvar lymphangiectasia secondary to gastrointestinal tuberculosis infection in a teenager.

We report a rare presentation of vulvar lymphangiectasia that developed secondary to gastrointestinal tuberculosis in a teenager, and its spontaneous resolution after anti-tuberculous treatment was completed.

Lymphaticovenous anastomosis and resection for genital acquired lymphangiectasia (GAL).

The purpose of this paper is to report on the relationship between lymphoscintigraphic findings and the operative results of lymphaticovenous anastomosis (LVA) as well as the resection of genital acquired lymphangiectasia (GAL). Seventeen patients with GAL who underwent lymphoscintigraphy between April 2012 and June 2016 were included in this retrospective study. LVA and GAL resections were performed for 14 patients. The GALs were resected in a spindle shape to the full thickness of the genital skin, and the wounds were closed primarily. Following the procedure, we investigated the recurrence rate and compared the results with the lymphoscintigraphic findings. The average follow-up period was 19.2 months. Six patients were without recurrence, and eight patients experienced a small recurrence of GAL. The average period from operation to recurrence was 16.8 months (range: 1-41 months). Of the six patients who had genital accumulation in lymphoscintigraphy, two patients experienced recurrence (33.3%), whereas six of the eight patients without genital accumulation experienced recurrence (75.0%). The frequency of cellulitis was observed to be reduced postoperatively in all patients, and recurrence was observed in one patient at 11 months postoperatively. In conclusion, lower limb LVA combined with genital skin tumor resection was effective for preventing the recurrence of GAL in patients who demonstrated communication between the lymphatic vessels in the lower limb and genitals. This procedure also had the benefit of reducing the frequency of cellulitis for an average of 19.2 months of follow-up.

Conjunctival lymphangiectasia associated with classic Fabry disease.

BACKGROUND: Fabry disease (FD) is a treatable multisystem disease caused by a defect in the alpha-galactosidase gene. Ocular signs of FD, including corneal verticillata, are among the earliest diagnostic findings. Conjunctival lymphangiectasia (CL) has not previously been associated with FD. METHODS: We examined the eyes of a cohort of 13 adult patients, eight men and five women, with documented classic FD, all treated with enzyme replacement therapy (ERT) at the University of Alabama at Birmingham between February 2014 and April 2015. The average age was 48 years with a range of 35-55 years for men and 21-71 years for women. The mean duration of ERT was 8.4 years (men 8.9 years, women 7.6 years) with a range of 4-14 years. Classical Fabry mutations included Q283X, R227X, W236X and W277X. A high resolution Haag-Streit BQ-900 slit lamp with EyeCap imaging system was used to record conjunctival images. RESULTS: CL was observed in 11 of the 13 patients (85%) despite long-term ERT. Clinical presentations included single cysts, beaded dilatations and areas of conjunctival oedema. Lesions were located within 6 mm of the corneal limbus. Ten of the 13 subjects (77%) had Fabry-related cataracts and all 13 demonstrated bilateral corneal verticillata. Twelve of the 13 patients had evidence of dry eye, 9 of whom were symptomatic, and 10 had peripheral lymphoedema. CONCLUSION: CL represents a common but under-recognised ocular manifestation of FD, which persists despite ERT, and is often accompanied by peripheral lymphoedema and dry eye syndrome.

Transient Reactive Eruptive Lymphangiectasia Following Partial Vulvectomy for Chronic Acquired Lymphangioma.

A 64-year-old white woman was originally diagnosed with histiocytic lymphoma in 1977. She had bilateral lymph node biopsies of the groin, chemotherapy, and radiation therapy after her diagnosis had been confirmed pathologically. She was treated with prednisone and vincristine.

Congenital pulmonary lymphangiectasia.

Congenital pulmonary lymphangiectasia (CPL) is a rare but fatal disease, usually having an onset from the first few hours to days after birth. Inconsistent nomenclatures were used for CPL in the past decades. Patients often present with intractable respiratory failure, hydrops fetalis and even sudden death. The etiologies of CPL remain unclear. Previous hypotheses suggested that CPL might be caused by conditions preventing normal regression of the lymphatics after the 18th-20th week of gestation. Up-to-date biological studies on lymphatic development, lymphatic valve formation and occurrence of hydrops fetalis revealed possible causative relations with mutations of genes of the vascular endothelial growth factor receptor (VEGFR), RAS/MAPK, PI3K/AKT and NF-κB signaling pathways. Lung biopsy with subsequent histological and immunohistochemical studies is a gold standard of CPL diagnosis. Apart from symptomatic and supportive treatments, novel regimens including sirolimus, a mammalian target of rapamycin (mTOR) inhibitor, one of the inhibitors of the pertinent signaling pathways and ethiodized oil lymphatic embolization under ultrasound-guided intranodal lymphangiography have shown encouraging short-term therapeutic effects for lymphatic anomalies. Surgical operations (lobectomy or pneumonectomy) can be the treatment of choice for patients with CPL confined to one lobe or one lung. Patients with CPL usually have a poor prognosis and often die during the neonatal period. Their prognoses are expected to improve with the development of modern therapeutic agents.

Pathological Investigation of Acquired Lymphangiectasia Accompanied by Lower Limb Lymphedema: Lymphocyte Infiltration in the Dermis and Epidermis.

BACKGROUND: Sometimes acquired lymphangiectasia (lymphangioma circumscriptum), the pathological mechanism of which is unknown, accompanies lymphedema. The purpose of this study was to better understand the pathological changes present in acquired lymphangiectasia. METHODS AND RESULTS: We examined the pathological characteristics of acquired lymphangiectasia with lymphedema among patients treated at the University of Tokyo Hospital from March 2008 to December 2015. In total, 16 biopsies from 10 patients were investigated. The average age of the patients was 57.2 years (range 43-69), and all were female with secondary lymphedema. Surgical specimens were fixed in formalin, and tissue sections were stained with hematoxylin-eosin. Additional immunostaining (podoplanin, lymphatic vessel endothelial hyaluronan receptor [LYVE] -1, CD4, CD8, CD20, and CD31) was performed in cases 1-3 and 8-10. Dilation of lymphatic vessels in the papillary dermis was present in all 10 cases. Infiltration of inflammatory cells, most of which were lymphocytes, was also observed in the dermis and the epidermis in all cases, even though there were no clinical signs of inflammation. The infiltrating lymphocytes were mainly CD4+ T cells, and less commonly, CD8+ T cells and CD20+ B cells. The number of three types of lymphocytes was significantly larger in the superficial layer of the dermis than in the deep layer, which may indicate that they oozed out from the dilated lymphatic vessels located in the superficial dermis. CD8+ T cells infiltrated the epidermis in seven of eight specimens. In case 4, coagulated lymphatic fluid inside the lymphatic vessel was observed. Proliferation of collagenous fiber in the dermis and acanthosis were observed. CONCLUSIONS: Lymphatic dilation and proliferation of collagenous fiber in the dermis were seen in cases of acquired lymphangiectasia (lymphangioma circumscriptum). Constant infiltration of lymphocytes in the dermis and the epidermis may have a relation to frequent cellulitis, which is often seen in lymphedema patients.