Lymphangioma Circumscriptum

The patient is an active 10-year-old boy who was seen today for evaluation of a vascular anomaly on his right knee that has been present since birth.  It was biopsied in March 2017 and the histologic diagnosis was "lymphatic malformation consistent with a lymphangioma." 

Occasionally, his knee will swell and he will get some bleeding spots.  He is learning boxing and that can precipitate swelling. He never has pain.  Has not had any infection.  I referred him to a pediatric dermatologist 3 years ago but they were out of network and he never went. 

The lesion measures 7 cm in diameter on the right knee.  There are areas of dark purplish pigmentation in confluent vesicles. 

Clinical photos:

Pathology: There were multiple dilated irregular thin walled vessels lined by a single layer of bland endothelial cells.

IMPRESSION:  Lymphangioma circumscriptum.  I expect there is a deep component.  The patient has no lymphedema.  Note: The new terminology for this is "Microcystic Lymphatic Malformation (Ref 4.)

Question:  Should this tumor be evaluated and if so how?  Would any therapy be better than active surveillance?

 References:

1. Lymphangioma

Alyssa Miceli, Kristen M. Stewart  In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan. 2020 Aug 12. Free Full Text.

Excerpt:

Lymphangiomas are uncommon, benign malformations of the lymphatic system that can occur anywhere on the skin and mucous membranes. Lymphangiomas can be categorized as deep or superficial based on the depth and size of the abnormal lymphatic vessels or as congenital or acquired. The deep forms of lymphangioma include two specific well defined congenital entities: cavernous lymphangiomas and cystic hygromas. Superficial forms of lymphangioma include lymphangioma circumscriptum and acquired lymphangioma, which is also referred to in the literature as lymphangiectasia. Although both entities share similar clinical and histologic features, the term lymphangioma circumscriptum infers lymphatic channel dilation due to a congenital malformation of the lymphatic system. Whereas, the term lymphangiectasia, or acquired lymphangioma, denotes dilated lymphatic channels of previously normal lymphatics that have become obstructed by an external cause.

2. The Possible Role of Color Doppler and Pulse Wave Doppler Ultrasound in the Diagnosis of Cutaneous Lymphangioma Circumscriptum. Yang Sun, et. al. J Craniofac Surg. Jan/Feb 2020
Abstract: Cutaneous lymphangioma circumscriptum (CLC) is an uncommon congenital lymphatic malformation. Its dermoscopic features have been reported, however, if blood has infiltrated the lacunas, a pink hue overwhelms the lacunar structures, rendering dermoscopic features indistinguishable. In addition, dermoscopy cannot assess the subcutaneous extent of the lesion before surgery. The high-frequency array transducer Sonography with a high-frequency transducer is excellent in its resolution to evaluate skin lesions and is unaffected by infiltration of blood. Here, the authors report the use of ultrasound (color Doppler and pulse wave Doppler) for the diagnosis and management of CLC.An 18-year-old man presented 10 years previously with an asymptomatic 0.5 × 0.7 cm cluster of dark reddish vesicular lesions on his buttock. The lesions had recently increased in size and number. There was associated pachyderma. The lesions were hyperechoic and well defined on grayscale ultrasound and hypervascular on color Doppler ultrasound. Cluster cystics of lymphatic spaces were found throughout the whole dermis, especially in the papillary dermis. The lymphatic channels extended downwards to the reticular dermis and the superficial layer of the subcutaneous tissue. The pathological findings revealed lymphangiomas invading the subcutaneous tissue. The flat endothelial cells were partly positive for D2-40, which is a marker of lymphatic endothelial cells. Ultrasound was able to delineate the margins of the lesions. Diagnosis of CLC using preoperative color Doppler and pulse wave Doppler could reduce unnecessary repeated pre- and postoperative biopsies.

3. Lynphangioma Overview National Organization for Rare Disorders.

4. Micro- and Macrocystic Lymphatic Malformation. Lindsay McCormack, Krystal Jones, Jennifer T Huang. J Pediatr. 2020 Apr;219:275-276.  Free Full Text

 

5. Treatment of superficial vascular anomalies with topical sirolimus: A multicenter case series.  Melissa Dodds, et. al. Pediatr Dermatol. 2020 Mar;37(2):272-277.

Abstract: Background: Systemic sirolimus (rapamycin) has recently been found effective in treating complex vascular anomalies by reducing the size and associated complications. Many vascular anomalies have a cutaneous component, and thus, we sought to determine whether topical administration of sirolimus may be an effective therapy, as data on the use of topical sirolimus are limited.

Results: Eleven patients had combined venous lymphatic malformations, three had tufted angiomas, two had a lymphatic malformation, one had a venous malformation, and one had a verrucous venous malformation. All (100%) patients reported some degree of improvement and 50% of patients reported marked improvement in one or more symptoms, most commonly blebs and lymphatic drainage, and bleeding.

Conclusion: Topical sirolimus appears to be a safe and useful non-invasive therapy that is well-tolerated in the treatment of the cutaneous portion of a variety of vascular anomalies.

 

 

 

Lynphoepithelioma-like Carcinoma of the Skin

The patient, an 87 yo man in good general health, presented with a two month history of an asymptomatic papule in the right preauricular area.

The lesion was 7 mm erythematous papule without clinical or dermatoscopic diagnostic features.  There was an adjacent seborrheic keratosis.

A 4-mm punch biopsy was taken. 
Pathology:Aggregates of undifferentiated baseloid epithelium, some with central clear cell change and necrosis, associated with a peripheral rim of lymphocytes and scattered plasma cells.  In situ hybridization for EBV was negative.
These changes were interpreted as most consistent with a diagnosis of lymphoepithelioma-like carcinoma of the skin.
Thanks to Dr. Lynne Goldberg of Boston University Skin Pathology for the photomicrographs.

 

Re-excision:   

Although  an attempt was made to re-excise the lesion with 4 mm margins the patholoogy showed involvement of one lateral and the deep margin.

Appearance at re-excision

Diagnosis: Lymphoepithelial-like carcinoma of the skin (LECS).

ENT Connsult: No evidence of pharyngeal pathology
MRI: Normal with no adenopathy

The patient was referred for Mohs Micrographic Surgery.  The tumor was cleared with one stage, but a second stage was done to assure adequacy of excision.  (The patient's insurance was not charged for the 2nd stage).

Discussion:

Lymphoepithelioma-like carcinoma of the skin (LELCS) is a rare tumor of unknown etiology, low malignant potential, and microscopic resemblance to undifferentiated nasopharyngeal carcinoma. Clinically (as in this case), it presents as a flesh-colored firm nodule or plaque on the face, scalp, or shoulder of middle-aged to elderly individuals. Histologically, LELCS is composed of islands of enlarged epithelial cells with large vesicular nuclei surrounded and permeated by a dense lymphoplasmacytic infiltrate. LELCS exhibits immunoreactivity with high-molecular-weight cytokeratins and epithelial membrane antigen, indicating the epithelial origin.

Initially, the ENT consult felt that the patient should be referred to a radiotherapist for XRT; but the literature (see ref 3) does not support that.  He will be followed up at regular intervals by his dermatologist.

This case presentation highlights the difficulty in treating a rare disorder.  No one has enough expertise and one must fall back on the literature that may not be clear. Only about 80 of these tumors have been reported. Consultants may give opinions that are not based on science but on their own belief systems.  Where does the buck end?  The psychiatrist Michael Balint, described “The Collusion of Anonymity” in his book “The Doctor, His Patient and the Illness.”⁴  This holds that “the burden of responsibility is much too great, and everyone, including the patient, naturally tries to lighten it by involving someone else, or, if possible, a number of others. This may be described as the process of dilution of responsibility.

If all goes well with this collusion of anonymity all parties concerned feel justifiably proud and gratified. If anything goes wrong nobody is individually responsible.

The collusion of anonymity is one method of lightening the burden of responsibility. Present day practice in medicine is hardly more than the sum of the various specialties.

Nowadays everybody preaches that when a patient is ill the whole person is ill, not only his skin, stomach, his heart or his kidneys. This truth, while constant lip service is paid to it, is unfortunately ignored in most medical practices. A very experienced and disillusioned GP said, "nowadays it is enough for a doctor to know about 20 prescriptions and the address of about 30 consultants."

 

Reference

1. Bruce M Wenig. Lymphoepithelial-like Carcinomas of the Head and Neck. Semin Diagn Pathol. 2015 Jan;32(1):74-86.

Abstract: Lymphoepithelial-like carcinomas (LELC) of the head and neck represent malignant neoplasms that are histologically similar to nasopharyngeal carcinoma (NPC), nonkeratinizing undifferentiated type but arise in locations other than the nasopharynx. The most common location for LELC in the head and neck is the salivary glands, in particular the parotid gland. However, LELC may arise in other sites including the oropharynx (tonsils, base of tongue), sinonasal tract, larynx, and middle ear/temporal bone. Unlike the nonkeratinizing undifferentiated type of NPC which is etiologically linked to Epstein-Barr virus (EBV), LELCs are not uniformly associated with EBV. The differential diagnosis for LELC varies per site and depending on the site of occurrence may include lymphoepithelial sialadenitis, sinonasal undifferentiated carcinoma (SNUC), and large cell neuroendocrine carcinoma. Treatment general includes combined (multimodality) therapy including surgical resection, neck dissection, radiation therapy and/or chemotherapy. The prognosis may vary per site overall favorable owing to a good response to therapy.

2. Cristiano Claudino Oliveira, Vinicius Cardoso Nóbrega, and Mariângela Esther Alencar Marques. Lymphoepithelioma-like carcinoma of the skin*

An Bras Dermatol. 2018 Mar-Apr; 93(2): 256–258. Full Text: PMCID:PMC5916400

Abstract: Primary cutaneous lymphoepithelioma-like carcinoma is a rare disease with low metastatic potential. Its morphologic and pathological features are similar to those of nasopharyngeal lymphoepithelial carcinoma. We report the case of a 60-year-old man with an infrapalpebral pearly papule, measuring 0.6 cm in diameter. The lesion was excised with a clinical hypothesis of basal cell carcinoma or squamous cell carcinoma. Histopathological analysis revealed a malignant neoplasm with syncytial arrangement of cells with vesicular nuclei, associated with dense lymphocytic infiltrate. Immunohistochemistry revealed cytokeratin-positive cells (AE1/AE3) and p63 protein, indicating epithelial histogenesis and squamous differentiation. A negative Epstein-Barr virus test result was achieved by immunohistochemistry. Primary lymphoepithelioma-like carcinoma of the skin is a differential diagnosis of lesions with prominent inflammatory infiltrates.

3. Preston Q Welch. Lymphoepithelioma-like carcinoma of head and neck skin: a systematic analysis of 11 cases and review of literature (Review Article) Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2011 Jan;111(1):78-86.

Abstract: Lymphoepithelioma-like carcinoma of the skin (LELCS) is a rare tumor of unknown etiology, low malignant potential, and microscopic resemblance to undifferentiated nasopharyngeal carcinoma. Clinically, it presents as a flesh-colored firm nodule or plaque on the face, scalp, or shoulder of middle-aged to elderly individuals. Histologically, LELCS is composed of islands of enlarged epithelial cells with large vesicular nuclei surrounded and permeated by a dense lymphoplasmacytic infiltrate. LELCS exhibits immunoreactivity with high-molecular-weight cytokeratins and epithelial membrane antigen, indicating the epithelial origin. The differential diagnosis includes basal cell carcinoma, squamous cell carcinoma, lymphoma, pseudolymphoma, and Merkel cell carcinoma. We report 11 cases of LELCS of the head and neck region with discussion of the clinical, histopathologic, immunohistochemical, and therapeutic aspects of this rare cutaneous neoplasm. In addition, we systematically review and compare the findings with the previously published cases of LELCS. This study is the largest case series of LELCS reported in the English-language literature. It attempts to more clearly define the diagnostic criteria for LELCS. Its histomorphologic and immunophenotypic features help distinguish this tumor from similar-appearing malignancies, including metastatic nasopharyngeal carcinoma.

 

4. Michael Balint.  The Doctor, His Patient and the Illness. ChurchillLivingstone 1955.  For notes on The Collusion of Anonymity, contact D. Elpern who well email them to you.