Adult orbital and adnexal xanthogranulomatous disease

Purpose: adult xanthogranulomatous disease of the orbit and ocular adnexa is a rare disease that can cause serious morbidity and mortality. ophthalmologists are commonly the first clinicians to come in contact with affected patients and an understanding of the clinical features is essential. Design: We present a retrospective case series of patients seen in the oculoplastic unit of a large tertiary referral hospital over a 20-year period. Methods: the clinical files of 7 patients with adult xanthogranulomatous disease of the orbit and ocular adnexa were reviewed. clinical, radiological, histopathological, and immunohistochemical findings were examined. Results: Periocular clinical features included cutaneous xanthogranulomatous lesions, decreased visual acuity, proptosis, diplopia, skin ulceration, cicatricial ectropion, and mechanical ptosis. systemic features included adult-onset asthma, disseminated xanthogranulomatous lesions with long bone involvement, and hematological disturbances such as monoclonal gammopathy and lymphoplasmacytic lymphoma. lipid-laden macrophages and touton multinucleated giant cells were histological hallmarks in all subtypes. Most lesions were strongly cd8 positive on immunohistochemistry. radiologically, the lesions were diffuse and infiltrative in nature. Various treatments were employed with varying success including surgical excision, systemic and intralesional corticosteroids, other immunosuppressants, and systemic chemotherapy. Conclusions: adult xanthogranulomatous disease of the orbit and ocular adnexa, although rare, may be sight or life threatening. recognition by the ophthalmologist is critical as periocular features often constitute the initial presentation

Expression profiling of cutaneous squamous cell carcinoma with perineural invasion implicates the p53 pathway in the process

Squamous cell carcinoma (SCC) is the second most common cancer worldwide and accounts for approximately 30% of all keratinocyte cancers. The vast majority of cutaneous SCCs of the head and neck (cSCCHN) are readily curable with surgery and/or radiotherapy unless high-risk features are present. Perineural invasion (PNI) is recognized as one of these high-risk features. The molecular changes during clinical PNI in cSCCHN have not been previously investigated. In this study, we assessed the global gene expression differences between cSCCHN with or without incidental or clinical PNI. The results of the analysis showed signatures of gene expression representative of activation of p53 in tumors with PNI compared to tumors without, amongst other alterations. Immunohistochemical staining of p53 showed cSCCHN with clinical PNI to be more likely to exhibit a diffuse over-expression pattern, with no tumors showing normal p53 staining. DNA sequencing of cSCCHN samples with clinical PNI showed no difference in mutation number or position with samples without PNI, however a significant difference was observed in regulators of p53 degradation, stability and activity. Our results therefore suggest that cSCCHN with clinical PNI may be more likely to contain alterations in the p53 pathway, compared to cSCCHN without PNI