A rare case of intramuscular orbital amyloidosis presenting as progressive esotropia in an adult.

Orbital amyloidosis is an uncommon entity. Lacrimal gland, orbital soft tissue and extraocular muscles are the usual sites of involvement. Deposition of amyloid in the extraocular muscle can be either isolated or associated with systemic amyloidosis. We describe a case of a 43-year-old male with isolated amyloid infiltration of the right lateral rectus muscle presenting as a progressive esotropia. The case was initially misdiagnosed as lateral rectus palsy and myositis due to non-specific radiological features of the entity. The diagnosis was confirmed by a biopsy. Intramuscular Botulinum toxin injection, was administered to the right medial rectus to alleviate diplopia temporarily, and strabismus surgery was planned at a later stage. Amyloid deposition is a rare cause of extraocular muscle enlargement. Histopathology is confirmatory. Screening for systemic amyloidosis is mandatory in all cases.

The effect of direct cell injury inflicted by cryotherapy on eyelid sebaceous gland carcinoma cells: An ex-vivo experimental study.

PURPOSE: To evaluate the effect of direct cell injury of cryotherapy on eyelid sebaceous gland carcinoma cells by an ex vivo cryotherapy experiment. METHODS: It was a prospective interventional case series. Six patients with biopsy-proven nodular sebaceous gland carcinoma were included. After excision of the mass, a thin slice of the mass resembling the thickness of the conjunctiva was shaved off and was oriented over the broad end of a tissue forceps. Cryotherapy was applied to both its anterior and posterior aspects by the triple freeze-thaw technique. The mass was then labeled and sent separately for histopathological evaluation by fixation and staining. RESULTS: A total of six patients with a mean age of 58.2 ± 15.5 years were included. There were four females and two males. The mean duration of the lesion was 21.6 ± 17.51 months. All patients had involvement of the upper eyelid. The patients were clinically staged as T2b (n=2), T1a (n=2), T2c (n=1), and T3a (n=1) respectively. There was no regional lymphadenopathy or metastasis in any of the cases. The experimental cryo-tissue containing the cryo-treated lesion revealed the presence of viable tumor cells (>50%) in all six specimens. CONCLUSION: The direct cell injury caused by cryotherapy may not be sufficient to kill all the residual sebaceous gland carcinoma cells on the tumor bed.

The spectrum and clinicopathological correlation of eyelid lesions: Twenty years' experience at a tertiary eye care center in South India.

PURPOSE: : To study the epidemiological pattern and diagnostic accuracy of histopathologically proven eyelid lesions over a period of two decades. METHODS: : A retrospective study of all histopathologically proven eyelid lesions from April 1996 to March 2016 was conducted. The lesions were broadly categorized as benign or malignant. Inflammatory and infectious lesions were included under the benign category. The percentage and diagnostic accuracy of each lesion was calculated. RESULTS: : There were a total of 994 (M = 551, F = 443) cases. The mean age of the patients was 43.5 ± 19.9 years. There were 809 (81.4%) benign and 185 (18.6%) malignant lesions. Benign lesions were commonly seen in the fourth decade, while the malignant ones in the late fifth decade. The upper lid was the most common site in both groups (n = 481, 48.4%). The commonest benign lesion was chalazion (n = 484, 59.8%). Dermal nevus (n = 94, 11.6%) was the most common benign neoplasm, while Molluscum contagiosum (n = 25, 3.09%) was the most common infectious lesion. Sebaceous gland carcinoma (SGC) (n = 103, 55.7%) was the leading malignant lesion followed by basal cell carcinoma (n = 39, 21.1%). Eleven malignant cases were misdiagnosed as benign (5.9%). Chalazion (99.1%) and SGC (65%) had the highest diagnostic accuracy, while Molluscum (40%) and squamous cell carcinoma (40%) were the most misdiagnosed lesions in the respective groups. CONCLUSION: : Benign eyelid lesions are far more common than malignant ones. Atypical and rare presentations may lead to misdiagnosis. Knowledge of epidemiological patterns and clinical features can help in achieving higher diagnostic accuracy.

Urbach-Wiethe disease: Hyalinosis cutis et mucosae.

Urbach-Wiethe Disease is an uncommon entity with autosomal recessive inheritance. We describe the clinical and histopathological findings of lipoid proteinosis in this clinical image. Cicatricial alopecia, atrophic scar on face, moniliform blepharosis and alopecia are the characteristic features of this disease entity. Hoarseness of voice and seizure can also be seen in these patients. Skin biopsy confirms the diagnosis. Multidisciplinary involvement is recommended for the management of these cases.

Orbital and adnexal amyloidosis: Thirty years experience at a tertiary eye care center.

Purpose: The aim of this work was to study the clinical presentation, management and outcomes of orbital and adnexal amyloidosis. Methods: This retrospective analysis included all the patients diagnosed with orbital and adnexal amyloidosis between January 1990 and December 2019. Positive staining with Congo Red and apple-green birefringence on polarized light microscopy established the diagnosis. Data analyzed included demographic profile, varied presentations, management, and outcome. Results: Thirty-three eyes of 26 patients were included. The male:female ratio was 1:1. The mean age of the study population was 42.6 ± 16 years. The median duration of symptoms was two years. Unilateral involvement was seen in 19 eyes (right = 11, left = 8). The most common presenting feature was acquired ptosis. Eyelid was the most commonly affected site followed by orbit and conjunctiva. Two patients had systemic involvement in the form of multiple myeloma and lymphoplasmacytic lymphoma. Complete excision was done in seven (26.9%) cases while 19 (73.1%) cases underwent debulking. Three patients underwent ptosis surgery. The median duration of follow-up was 1.5 years. Three cases had recurrence and underwent repeat surgery. Conclusion: Orbit and adnexa is a rare site for amyloidosis. It is usually localized; however it can occur as a part of systemic amyloidosis. Eyelid is the most common site of involvement and patients usually present as eyelid mass or ptosis. Complete excision is difficult and most of the patients usually undergo debulking surgery. All patients should undergo screening for systemic amyloidosis.

Role of neuroimaging in cases of primary and secondary hemifacial spasm.

Purpose: The objective of this study was to analyze the role of neuroimaging and documenting various intracranial pathologies in primary and secondary hemifacial spasm. Methods: This retrospective study included patients with HFS who had undergone neuroimaging. The demographic profile, onset, progression, neuroimaging findings, and types of HFS were documented and analyzed. Results: A total of 202 patients (male = 110, female = 92) were included. The mean age of the study population was 51.81 ± 11.76 years. The right side was involved in 104 patients, the left side was involved in 97 patients and bilateral involvement was observed in one patient. Primary HFS: secondary HFS was 9.6:1. The mean age of onset of the spasms in the primary HFS group was 49.26 ± 8.35 years and in secondary HFS was 43.13 ± 12.12 years respectively. The anterior inferior cerebellar artery was the major vessel causing neurovascular conflict in primary HFS (n = 55). Facial nerve palsy was the most common cause (n = 13) of secondary HFS followed by cerebellopontine angle (CPA) tumors. Conclusion: The hemifacial spasm occurs mostly in the fifth decade of life. Primary HFS is more prevalent than secondary HFS. Clinical distinction between them is difficult. Neuroimaging is essential to detect the conflicting vasculature in cases of primary HFS and pathologies like CPA tumor, cyst, and aneurysms in cases of secondary HFS.

A rare case of congenital piloleiomyoma of the eyelid.

Cutaneous leiomyoma is an infrequently occurring benign smooth muscle neoplasm of skin. Piloleiomyoma, angioleiomyoma, and genital leiomyoma are the three forms of the cutaneous leiomyoma. Piloleiomyoma arises from arrector pili muscle and is commonly seen in the adult population. Congenital piloleiomyoma is extremely rare and has never been reported to arise from the eyelid. We report a case of a neonate presenting with upper eyelid mass lesion since birth causing mechanical ptosis. Incisional biopsy followed by histopathology and immunohistochemistry established the diagnosis of piloleiomyoma. There was associated cryptorchidism in our case, a systemic association that has never been reported. Considering the benign nature of the lesion the child was kept under regular follow up without attempting any further removal.