Our case highlights a 73-year-old male who was referred for surgical correction of right eye ptosis that was present for 2 years. He complained that his ptosis was progressively worsening. On assessment of his driver’s license from 5 years prior, the right sided ptosis was present. His past medical history was significant for diabetes mellitus, dyslipidemia and remote head trauma resulting in a basal skull fracture. His past ocular history was significant for prior cataract extraction and primary open angle glaucoma which was controlled medically.\nOn initial examination, his visual acuity was 20/25–1 and 20/20–1 in the right and left eye, respectively. His intraocular pressures were 12 mmHg bilaterally. His anterior segment examination was unremarkable. His posterior examination was unremarkable apart from glaucomatous disc damage. His ocular movements were full and there was no enophthalmos or exophthalmos. He was noted to have right-sided ptosis (Fig. ). Upon palpation of his right orbit, he was noted to have an upper lateral orbital rim mass. The patient was otherwise asymptomatic; he did not report pain, pressure or right-sided visual deficits. Computed tomography (CT) noted ill-defined soft tissue thickening anterior to the right globe, predominantly pre-septal but with slight post-septal extension (Fig. ).\nAn orbitotomy was performed for biopsy of the right orbicularis muscle and anterior orbit through an eyelid crease incision. The pathology revealed diffusely and deeply infiltrating tumour cells extending through the dermis, subcutis, orbicularis muscle bundles and nerve fibers (Fig. a-c); the tumour cells were noted to have a monotonous histiocytoid appearance with foamy granular eosinophilic cytoplasm (Fig. d). There was diffuse infiltration of the dermis with sparing of the epidermis and lack of surrounding desmoplastic reaction. In specific areas, lesional cells showed single filing. Sebaceous differentiation was not seen, and the epidermis did not show a cutaneous Paget’s disease-like change. At high magnification, intracytoplasmic vacuoles and occasional intermixed signet ring cells were identified (Fig. e). They were characterized by a crescent-like nuclei and a main, centrally located cytoplasmic vacuole. Rare scattered mitoses were noted. Immunohistochemical staining revealed the tumour cells to be AE1/AE3, CK7, GCDFP-15, E-cadherin, androgen receptor (AR) stain and GATA3 positive (Fig. f). No appreciable staining was noted with CK20, CDX2, TTF-1, S100, mammaglobin, p63, uroplakin-II, PSAP, PAX8, tryptase, CD20, CD117, CD43, WT1, calretinin and PSA stains. MIB-1 showed a low proliferative index (about 10%). Progesterone receptor stain was negative; however, estrogen receptor stain did show patchy staining (about 15–20%). Final pathology report confirmed the diagnosis of primary cutaneous signet-ring cell/histiocytoid carcinoma of the right eyelid. Systemic workup was performed with positron emission tomography (PET) and full body CT which failed to identify a distant primary malignancy or metastatic disease.\nThe decision was made to attempt surgical excision of the tumor. After the bulk of the grossly apparent tumor was removed, intraoperative frozen sections were sent. Unfortunately, frozen pathology was unable to differentiate tumor cells from normal inflammatory histiocytes. Thus, numerous superficial biopsies of the right periorbital soft tissue were performed, which revealed extension significantly further than the gross disease. Thereafter, the patient underwent a wide orbital exenteration with reconstruction using a temporary split-thickness skin graft. On final permanent sections, there still remained positive margins.\nLater, the patient underwent further resection by the head and neck oncology team, in which further extensive resections were performed around the original rim of the exenteration site. The previous skin graft was resected, the orbital apex was further dissected, the maxillary sinus was removed and further resection into the skull base was performed. Neck dissection was performed in preparation for free muscle-skin flap reconstruction after all skin and deep margins were found to be negative.\nTwo rounds of adjuvant post-operative radiation were administered (5040 cGy in 28 fractions) 3 months after his reconstruction. Post-radiation PET and CT scans were negative for recurrence 6 months after his initial surgery. There was no evidence of recurrence after 4 years of follow-up.
The patient was a 62-year-old female of African American ethnicity, with a past medical history of type 2 diabetes mellitus, chronic kidney disease secondary to diabetes, glaucoma, macrocytic anemia, chronic back pain and hypertension, who initially presented to her ophthalmologist with a small growth over her left upper eyelid. The patient had the swelling for more than four years that had gradually increased in size. She did not have it evaluated as it very occasionally caused symptoms like on and off tearing, itching, and irritation. She decided to seek medical care when she noticed some tenderness over the lesion. On initial evaluation, she was noted to have a 0.6 mm, elevated, cystic-appearing subcutaneous nodule in the central medial left upper lid margin and lash row. It was noninflamed and tender to palpation. The lesion was in close proximity to the cornea. All other eyelid and orbital functions were normal.\nThe lesion was initially thought to be a benign cyst. As it was symptomatic, it was excised and reconstruction was done. Histopathological analysis revealed positivity for carcinoma cells and suggested that it was a mucinous colloid carcinoma. As the margins were positive, a repeat excision with wider margins and reconstruction via advancement of her lateral full thickness upper lip into the central upper lid was done following a superior cantholysis of the lateral canthal tendon. The surgeons felt that there was no evidence of regional extension beyond what was excised. This was further confirmed by CT imaging of the orbits that revealed no locoregional extension or residual tumor (Figure ). Histopathological exam showed that the tumor was present within the dermis abutting the orbicularis muscle and was composed of lobules of epithelial cells floating in pools of mucin. Small ductal structures were observed within the lobules. A dual population of epithelial cells was identified with mild to moderate pleomorphism admixed with some atypical mitotic figures. Adjacent to the tumor, there were distended ductal structures with atypical proliferation of epithelial cells with a cribriform architecture and extracellular mucin. The tumor extended into the deep tissue edges, but perineural invasion was not identified. Immunohistochemical analysis revealed that the tumor was positive for tumor protein p63 (P63) and cytokeratin 7 (CK7) and negative for cytokeratin 20 (CK20), thyroid transcription factor-1 (TTF-1), and human epidermal growth factor receptor 2 (HER-2). These findings confirmed the diagnosis of PMA of the eyelid.\nGiven that an underlying occult malignancy of the gastrointestinal tract or breast may present similarly, she was evaluated extensively with CT scans of the thorax, abdomen, and soft tissues of the neck. She also had a mammogram and a colonoscopy. All the tests were unremarkable and negative for malignancy. Given the rarity of the disease, Radiation Oncology and Medical Oncology services were integrated to her care. She is being followed up in regular intervals and has not had any recurrence of her tumor thus far.