Prithvi Ramtohul, Danièle Denis
A 61-year-old man with a history of severe seasonal allergies presented with violaceous erythema of the eyelids (Fig A). Complete physical examination disclosed reddish macules of interphalangeal/metacarpophalangeal joints (Fig A, Gottron’s sign) and proximal muscle weakness. Serum creatine phosphokinase was elevated (485 U/l, normal 31-288) and muscle biopsy revealed endomysial inflammatory cell infiltration, consistent with the diagnosis of dermatomyositis (Fig B). Magnetic resonance imaging subsequently documented a prostate tumor (Fig C, red arrow), histologically identified as large-cell neuroendocrine prostate carcinoma (Fig D, positive immunohistochemical staining for chromogranin A).
S. Kumar & T. Diamond
Paraneoplastic syndrome is a rare but reversible cause of non-thyroid-related extraocular muscle enlargement. We present a 71-year-old lady with diplopia, restricted eye movements, suppressed thyroid-stimulating hormone and enlargement of all extraocular muscles while on thyroxine replacement for hypothyroidism. She had distant history of metastatic breast cancer treated with chemotherapy, surgical resection and tamoxifen. She had negative anti-thyroid autoantibodies and thyroid ultrasound was not consistent with autoimmune thyroid disease. Carcinoembryonic antigen and cancer antigens 15-3, 125 and 72-4 were elevated, and whole-body positron emission tomography-computed tomography showed avid liver, left adrenal and skeletal lesions, with liver biopsy confirming breast cancer recurrence. She received prednisone and chemotherapy (letrozole, palbociclib) and achieved normalisation of eye movements and reduction in her EOME at 9-month follow-up. Our case highlights the importance of exploring paraneoplastic syndrome as a treatable cause of EOME in a patient lacking features of thyroid orbitopathy and autoimmune thyroid disease.
F Shafi, P Mathewson, P Mehta and H S Ahluwalia
Extraocular muscle enlargement (EOME) is most commonly associated with thyroid eye disease, but there are other causes. We report our outcomes of investigating and managing non-thyroid-related EOME (NTR-EOME).
Retrospective consecutive case series. Sixteen patients identified by clinical features and orbital imaging. Patient demographics, radiological features, and adjuvant tests including biopsy and final diagnosis were recorded.
Mean age at presentation 59.3 years (range 24–89 years). Mean follow-up 3.2 years (range 3 months to 5.5 years). Superior rectus (SR) was most commonly involved muscle (8/16 cases) followed by lateral rectus (4/16). Of the 16 cases, 14 were associated with underlying systemic neoplasia (5 lymphoma, 5 metastatic carcinoma, and 4 presumed paraneoplastic syndrome). All SR enlargement was associated with underlying neoplasia. All patients underwent orbital imaging followed by systemic imaging based on clinical index of suspicion (14/16 patients (13 full body CT (FBCT), 1 mammography)). Positive systemic radiological findings were detected in 12/14 cases. Of the remaining 2 patients, 1 underwent full body positron emission tomography-computed tomography (FBPET-CT), which detected thyroid carcinoma, and the second patient underwent FBCT for staging following orbital biopsy showing lymphoma. Four patients (25%) died within 3 years of follow-up due to disseminated systemic malignancy.
All cases of NTR-EOME should be viewed with a high level of clinical suspicion for systemic neoplasia, especially when the SR is involved. FBCT can help to identify a primary systemic cause. FBPET-CT is best reserved for cases negative on FBCT or for staging and monitoring systemic disease. NTR-EOME can be associated with significant mortality (25%), hence warrants prompt and thorough systemic investigation.
Raffaele Piscopo MD, Mary Romano MD, Alessandra Di Maria MD, Riccardo Vinciguerra MD & Paolo Vinciguerra MD
Introduction: Paraneoplastic clinical signs are characterized by a large and heterogeneous variety of manifestations due to several possible underlying neoplasms. Paraneoplastic pemphigus (PNP) is a particular paraneoplastic variety that usually primarily affects the dermic and/or oral mucosa and is characterized by a high rate of mortality (90%). Therefore, it is important to recognize its possible signs early. This report describes a case of ocular paraneoplastic pemphigus (PNP) presenting with recalcitrant eyelid ulceration and hyperemic conjunctivitis caused by an undiagnosed prostate cancer.
Methods: A 77-year-old man was admitted to our department because of recalcitrant hyperemic conjunctivitis in both eyes, complicated with large ulceration of both upper eyelids in spite of topical therapy. After 3 weeks, oral mucositis and bullous dermatitis on the chest and arms developed.
Results: Complete slit lamp ocular study, conjunctival swabs, routine hematologic tests, serum neoplasm markers, indirect immunofluorescence study, immunoblotting, and oral mucose biopsy with direct immunofluorescence were performed under the hypothesis of a paraneoplastic sign. Total body computed tomography scan and ultrasound-guided needle prostate biopsy completed the diagnostic process and confirmed the diagnosis of prostate PNP. Complete remission of ocular clinical signs was achieved by treatment of the prostate malignancy with systemic immunosuppressive therapy and chemotherapy.