An Update on Endocrine Mucin-producing Sweat Gland Carcinoma: Clinicopathologic Study of 63 Cases and Comparative Analysis.

Endocrine mucin-producing sweat gland carcinoma (EMPSGC) is a rare, low-grade adnexal neoplasm with predilection for the periorbital skin of older women. Histologically and immunophenotypically, EMPSGC is analogous to another neoplasm with neuroendocrine differentiation, solid papillary carcinoma of the breast. Both lesions are spatially associated with neuroendocrine mucinous adenocarcinomas of the skin and breast, respectively. EMPSGC is ostensibly a precursor of neuroendocrine-type mucinous sweat gland adenocarcinoma (MSC), a lesion of uncertain prognosis. Non-neuroendocrine MSC has been deemed locally aggressive with metastatic potential, and previous works speculated that EMPSGC-associated (neuroendocrine-type) MSC had similar recurrence and metastatic potential with implications for patient follow-up. Only 96 cases of EMPSGC have been reported (12 cases in the largest case series). Herein, we present 63 cases diagnosed as "EMPSGC" in comparison with aggregated results from known published EMPSGC cases. We aim to clarify the clinicopathologic features and prognostic significance of the neuroendocrine differentiation of EMPSGC and its associated adenocarcinoma and to determine the nosological relevance of EMPSGC association in the spectrum of MSC histopathogenesis. Results established an overall female predominance (66.7%) and average presenting age of 64 years. EMPSGC lesions were associated with adjacent MSC in 33.3% of cases. The recurrence rate for neuroendocrine-type MSC was ~21%, less than the reported 30% for non-neuroendocrine MSC. There were no cases of metastasis. EMPSGC and neuroendocrine-type MSC are distinct entities with more indolent behavior than previously reported, supporting a favorable prognosis for patients.

Muir-Torre Syndrome: The Importance of a Detailed Family History.

Muir-Torre syndrome, a variant of Lynch syndrome or hereditary nonpolyposis colorectal cancer, is an autosomal dominant disease characterized by skin neoplasms (sebaceous or keratoacanthomas) and visceral malignancies. Due to the rarity of the syndrome there are no firm guidelines on how and when to test patients with its typical skin lesions. We describe a case that highlights the importance of a detailed family history.

Detection of extrascleral extension in uveal melanoma with histopathological correlation.

PURPOSE: Uveal melanoma is the most common primary intraocular malignancy. Extrascleral extension (ESE) is rare, but associated with an increased rate of orbital recurrence and an overall poor prognosis. Clinical studies show low rates when compared with histological studies. Due to the prognostic importance of ESE, we sought to compare our clinical, intraoperative, and histological detection rates. DESIGN: A retrospective cross-sectional case series. METHODS: A list of eyes enucleated for uveal melanoma was compiled from the admissions records of the London Ocular Oncology Service during the 28-month period, i.e. January 2010-April 2012. The surgical and clinical notes of patients with histopathology proven ESE were reviewed to determine when it was first diagnosed or suspected. The subsequent management of these cases is discussed. RESULTS: A total of 16 out of 174 (9%) eyes had histologically proven ESE. Eight of 16 cases were detected preoperatively at clinical examination, including the use of ocular ultrasound, 3 of 16 were discovered intra-operatively, and 5 of 16 deemed microscopic ESE, were first detected on histological examination. Seven of 7 (100%) of cases with anterior ESE were detected clinically by slit lamp biomicroscopy, while only 1 out of 9 (11%) of cases with posterior ESE was detected preoperatively with ultrasound. CONCLUSIONS: Slit lamp biomicroscopy is sensitive for detecting anterior ESE. Most posterior ESE is microscopic, but macroscopic posterior ESE may also be missed by B-scan ocular ultrasound. Orbital surgeons should be suspicious of clinically undetected posterior ESE, and consider adjuvant orbital radiotherapy in cases with macroscopic ESE.

Neurofibromatosis type 1: A neuro-psycho-cutaneous syndrome?

Neurofibromatosis type 1 (NF1) is an inherited disorder often associated with optic nerve gliomas, low-grade brain tumors, and readily visible signs. Though these features are frequently emphasized, the psychosocial and emotional morbidities are often overlooked. We present a patient with depressive disorder resulting in suicide in a patient with NF1.

Histopathological analysis of retinopathy of prematurity after intravitreal bevacizumab.

We report the case of a premature infant with end-organ failure who developed high-risk retinopathy of prematurity (ROP) bilaterally and was treated with intravitreal bevacizumab (IVB) injection therapy with regression noted on follow-up clinical examination. The infant died 3 weeks after IVB injection therapy. Histopathological analysis was conducted on bilateral globes and revealed persistent preretinal vessels.

Bilateral Primary Mucinous Carcinoma of the Eyelid.

The aim of this study is to report a case of bilateral primary mucinous carcinoma of the eyelids. This is a case report and literature review. A 71-year-old female presented with primary mucinous carcinoma of the left upper eyelid, which was excised with Mohs surgery. One year later, she developed primary mucinous carcinoma of the right upper eyelid, which was also treated Mohs surgery. Extensive workup was negative for evidence of an unknown primary carcinoma or metastasis. Primary mucinous carcinoma of the eyelids may occur as multifocal tumors, and bilateral disease is not necessarily indicative of metastatic disease.

Is There an Increased Prevalence of Asteroid Hyalosis in Eyes with Uveal Melanoma? A Histopathologic Study.

During the planning meeting for the Collaborative Ocular Melanoma Study (COMS) prior to the start of patient recruitment in 1986, there was an interest expressed in determining whether a relationship existed between the presence of uveal melanoma (UM) and asteroid hyalosis (AH). To answer this question, the ophthalmic examination form (unlike the pathology form for enucleated eyes) for each COMS patient asked whether AH was present or not. Though an increased prevalence was not found, this result was never published. A recent unpublished study at the University of Wisconsin School of Veterinary Medicine indicated a higher prevalence of AH in canine eyes with UM when compared to control eyes (without tumor) enucleated for goniodysgenesis. This further increased our interest in revisiting the published literature, clinical records, and histopathology slides of the enucleated eyes from the COMS study, as well as the histopathology slides on file in the University of Wisconsin Eye Pathology Laboratory. While cases with both AH and UM were occasionally encountered in the literature, clinically, we could not find a previous study focusing on these two processes. This study was conducted to explore whether such an association exists.

Nonteratoid Medulloepithelioma Presenting in a 78-Year-Old Male.

BACKGROUND: Medulloepithelioma is a rare congenital neoplasm derived from precursors of the nonpigmented ciliary epithelium of the ciliary body. The average patient age at clinical presentation is 3.8 years. CASE PRESENTATION: We present the case of a 78-year-old male with progressive lens subluxation and ocular hypertension who was found to have a ciliary body mass. After enucleation for presumed ciliary body melanoma, histopathology showed a nonteratoid medulloepithelioma. Cytogenetic analysis revealed abnormalities in chromosomes 3 and 8. CONCLUSION: Medulloepithelioma is often initially misdiagnosed. Though congenital in nature, it can exhibit rapid growth, have chromosomal abnormalities, and must be considered in all age groups.

Adult-Onset Asthma and Periocular Xanthogranulomas Associated with Systemic IgG4-Related Disease.

PURPOSE: The aim of this study was to report a case of Adult-Onset Asthma with Periocular Xanthogranulomas (AAPOX) associated with systemic IgG4-related disease (IgG4-RD). OBSERVATIONS: A 57-year-old man presented with bilateral periorbital swelling for 1 year. Histopathology of a left orbital biopsy showed fibro vascular connective tissue inundated with foamy, lipid-laden histiocytes and touton giant cells with lymphocytic inflammation. Additional stains revealed CD68 positivity, and S100 negativity. The IgG and IgG4 stained slides showed increased IgG4 positive plasma cells but did not meet the criteria for IgG4-related orbital disease. His IgG4 serology was elevated, and IgG4 staining of his tissue previously diagnosed as autoimmune sclerosing pancreatitis was found to meet the criteria for IgG4-RD. CONCLUSIONS AND IMPORTANCE: AAPOX can be associated with systemic IgG4-RD.