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Although basal cell carcinoma (BCC) is the most common eyelid neoplasm, BCC that originates from the lacrimal caruncle is extremely rare. To the best of our knowledge, only seven cases have been reported and here we report the first documented primary caruncular BCC in an Oriental patient. A 73-year-old Chinese man presented with a telangiectatic, multilobulated, pigmented tumor that measured 5×5 mm, which had arisen from the lacrimal caruncle of the left eye 3 months previously. The patient underwent tumor excision, and histopathological examination revealed BCC. He received adjuvant chemotherapy with intra-arterial methotrexate (30 mg/m(2)). A nodular pigmented BCC recurred in the bulbar conjunctiva close to the original tumor 3 months later, and he underwent a second excision. Bleomycin (8.5 mg/m(2) monthly) was added to the chemotherapy regimen, which was changed to fluorouracil (300 mg/m(2) monthly) 2 months later. The tumor did not recur during follow-up of 22 months. Malignant tumors of the caruncle are infrequent. BCC should be considered in the differential diagnosis of a pigmented caruncular lesion., (Copyright © 2010 Elsevier. Published by Elsevier B.V. All rights reserved.)

Objectives: To characterize the clinical and cellular phenotypes of a novel MPZ mutation identified in a Chinese family with Charcot-Marie-Tooth (CMT) disease type 1B., Methods: The family was evaluated clinically, electrophysiologically, pathologically, and genetically. The wild-type and mutant P(0) fused with fluorescent proteins were expressed in vitro to monitor their intracellular trafficking. Adhesion assay was also performed to evaluate the adhesiveness of cells., Results: The novel MPZ mutation, c.367G>A, is associated with a late-onset demyelinating CMT phenotype with autosomal dominant inheritance. The median motor nerve conduction velocities of patients in this family ranged from 15.7 to 19.6 m/second. The neuropathologic studies from a sural nerve biopsy revealed a severe loss of myelinated fibers, and some onion bulb formation with clusters of regenerative fibers. Fluorescence analysis demonstrated that the mutant protein was retained ectopically in the endoplasmic reticulum and Golgi apparatus. Adhesion assay demonstrated a defective adhesiveness of cells expressing the mutant P(0)G123S protein., Conclusion: The novel P(0)G123S mutation is associated with typical findings of late-onset demyelinating polyneuropathy in the electrophysiologic and pathologic studies, putatively resulting from aberrant intracellular trafficking of the mutant P(0) protein, which compromises the adhesiveness of the cells.