Evaluation For Systemic Disease Research Articles

Histological evidence of MAPK pathway activation across subtypes of adult orbital xanthogranulomatous disease irrespective of the detection of oncogenic mutations

Adult orbital xanthogranulomatous disease (AOXGD) is a spectrum of histiocytoses with four subtypes. Mitogen-activated protein kinase (MAPK) pathway mutations have been detected in various histiocytic neoplasms, little is known about this in AOXGD. Targeted regions of cancer- and histiocytosis-related genes were analyzed and immunohistochemical staining of phosphorylated ERK (pERK), cyclin D1 and PU.1 was performed in 28 AOXGD and 10 control xanthelasma biopsies to assess MAPK pathway activation.Mutations were detected in 7/28 (25%) patients. Positive staining for pERK and/or cyclin D1 was found across all subtypes in 17/27 (63%) patients of whom 12/17 (71%) did not harbour a mutation. Xanthelasma tissue stained negative for pERK and cyclin D1. Relapse occurred in 5/7 (71%) patients with a MAPK pathway mutation compared to 8/21 (38%) patients in whom no mutation could be detected.Molecular analysis and evaluation for systemic disease is warranted to identify patients at risk of recurrent xanthomatous disease.

Reactive granulomatous dermatitis: A useful and encompassing term

Reactive granulomatous dermatitis: A useful and encompassing term

AB023. An atypical clinical presentation of alopecia in two patients with systemic lupus erythematosus

Alopecia in varying patterns is a common feature of lupus erythematosus (LE). Several forms of alopecia that are not specific to LE can occur in the setting of lupus, such as alopecia areata, telogen effluvium, and anagen effluvium. LE-specific alopecias are defined as those with histology consistent with LE, and include forms of acute, subacute, and chronic cutaneous lupus erythematosus (CCLE). Common patterns of LE-specific alopecia include the non-scarring diffuse hair thinning and fragility of acute LE and the scarring, erythematous scaly plaques with follicular keratotic plugs, peripheral hyperpigmentation, and central hypopigmentation of discoid lupus erythematosus (DLE). Lupus erythematosus tumidus (LET) may also present on the scalp as well-defined, non-scarring alopecia without overlying scale, atrophy, and dyspigmentation. We report two male patients with large circular non-scarring alopecic plaques on the scalp without overlying scale or erythema, but with central hyperpigmentation and scarring – findings reminiscent of but also distinct from both DLE and LET. Punch biopsy from the hyperpigmented area of alopecia revealed peri-follicular lymphocytic infiltrate, follicular dropout, and increased dermal mucin consistent with LE; further workup and serologic testing revealed systemic lupus in both patients. These two cases demonstrate a unique clinical presentation of central scarring alopecia within a larger non-scarring alopecic plaque in the setting of SLE that deviates from typical lupus-related alopecia. Teaching point: these two cases underscore the morphologic heterogeneity of CCLE and need for thorough evaluation of systemic disease in patients presenting with both scarring and non-scarring alopecia.

Long Term Follow Up of Bladder Amyloidosis

This is an evaluation of a patient presenting with bladder amyloidosis and a seven year asymptomatic history between gross hematuria episodes. Cystoscopic evaluation showed a diffuse progression of amyloid deposits throughout the bladder. Biopsy confirmed the diagnosis and was negative for malignancy. Further evaluation ruled out systemic disease. To date, he has declined treatment. There is little available literature on long term urologic follow up for these patients. Bladder amyloidosis is rare, but most urologists will encounter it in their clinical practice. There are no agreed upon guidelines or recommendations for long term management of these patients, likely owing to its rarity. This patient had local progression confirmed on biopsy without evidence of malignancy. Evaluation for systemic amyloidosis was also negative. While a single, isolated case, it is unique for the length of follow up, the local progression and lack of symptoms. It is consistent with the low likelihood of systemic progression but does raise the question of how to treat these patients long-term. The authors recommend initial biopsy both to confirm diagnosis and rule out malignancy, evaluation for systemic disease and regular cystoscopic examinations to help direct therapy.

Preoperative Evaluation in Trabeculectomy

Trabeculectomy remains the gold standard surgery for intraocular pressure lowering in primary glaucoma. The success of filtering surgerydepends on a number of ocular and systemic factors, which must be evaluated in the preoperative period. The evaluation should include a careful history, evaluation of systemic disease, examination of ocular adnexa, conjunctiva, corneal endothelium, anterior chamber angle, status of the lens and objective evaluation of the structure and function of the optic nerve head. The current article reviews the important preoperative considerations to be looked into before subjecting a patient to trabeculectomy.

Primary localized conjunctival amyloidosis presenting with recurrence of subconjunctival hemorrhage

PURPOSE: To report the ocular presentation and histopathology of a patient with primary localized conjunctival amyloidosis. METHODS: A 38-year-old woman presented with a recurrence of episodes of severe bilateral subconjunctival hemorrhage. Ocular examination revealed yellowish, marked folding and redundancy of the conjunctiva in the inferior cul-de-sac of each eye. RESULTS: After two initial conjunctival biopsies that showed only chronic inflammation, a third biopsy revealed the presence of amyloid in the substantia propria of the conjunctiva. CONCLUSION: Primary localized conjunctival amyloidosis is rare and usually diagnosed histologically instead of clinically. Recurrence of subconjunctival hemorrhage may be the initial presentation. Evaluation for systemic diseases is advised, though the results of the examination are almost always negative.

Leptospirosis as a Cause of Uveitis

To the Editor .—Although Rosenbaum showed clearly that an evaluation for systemic disease in a patient with uveitis is useful, no specific diagnosis could be made in a quarter of his patients. The cause remained undefined in over half the patients reported in another large study. 2 Adding leptospirosis to the list of causes of uveal tract inflammation could perhaps improve the ability to determine a specific cause. This disease remains a major public health problem in parts of the developing world, and is frequently underdiagnosed in the United States: in one series only 17% of 483 proven cases were initially thought to be leptospirosis. 3 The precise incidence of uveitis in leptospirosis is unknown, but has been reported to range from 10% to 44%. 4 The anterior uveal tract is usually affected 4 to 8 months after initial disease symptoms appear, at a time when other clinical features have

Leptospirosis as a cause of uveitis

To the Editor .—Although Rosenbaum showed clearly that an evaluation for systemic disease in a patient with uveitis is useful, no specific diagnosis could be made in a quarter of his patients. The cause remained undefined in over half the patients reported in another large study. 2 Adding leptospirosis to the list of causes of uveal tract inflammation could perhaps improve the ability to determine a specific cause. This disease remains a major public health problem in parts of the developing world, and is frequently underdiagnosed in the United States: in one series only 17% of 483 proven cases were initially thought to be leptospirosis. 3 The precise incidence of uveitis in leptospirosis is unknown, but has been reported to range from 10% to 44%. 4 The anterior uveal tract is usually affected 4 to 8 months after initial disease symptoms appear, at a time when other clinical features have