Ann M. John

Muir-Torre syndrome (MTS): An update and approach to diagnosis and management

Muir-Torre syndrome (MTS) is a rare genetic condition that predisposes individuals to skin tumors and visceral malignancies. Because of the potentially aggressive nature of internal malignancies and sebaceous carcinoma, and the tendency to have multiple low-grade visceral cancers, close cancer surveillance is required in individuals and their families with this usually autosomal dominant disorder. Although the majority of MTS is caused by mutations in DNA mismatch repair genes resulting in microsatellite instability, a newly described subtype of MTS does not demonstrate microsatellite instability and may be inherited in an autosomal recessive pattern. In addition, MTS may be unmasked in transplant recipients taking specific immunosuppressant drugs or other immunosuppressed patients. Neoplasms may be subject to immunohistochemistry or both immunohistochemistry and genetic testing to confirm the diagnosis of MTS. Here, we offer an update and an approach to the diagnosis and management of MTS with a particular emphasis on the role of immunohistochemistry and genetic testing.

Analysis of online patient education materials in pediatric ophthalmology

BACKGROUND Patients increasingly consult online resources for healthcare information. The American Medical Association (AMA) and National Institutes of Health (NIH) recommend that online education resources be written between a 3rd- and 7th-grade level. This study assesses whether online health information abides by these guidelines. METHODS Ten pediatric ophthalmology conditions were entered into a commonly used search engine, Google.com, and analyzed using 10 validated readability scales. Scientific articles and articles written on patient forums were excluded. The 10 conditions--amblyopia, cataract, conjunctivitis, corneal abrasion, nystagmus, retinoblastoma, retinopathy of prematurity, strabismus, stye, and glaucoma--were also searched and analyzed separately from widely used websites, including Wikipedia and WebMD, as well as those of professional societies, including the American Association for Pediatric Ophthalmology and Strabismus (AAPOS) and the American Optometric Association (AOA). RESULTS The majority of articles were written above recommended guidelines. All scales showed that the 100 articles were written at a mean grade-level of 11.75 ± 2.72. Only 12% of articles were written below a 9th-grade level and only 3% met recommended criteria. The articles accrued separately from Wikipedia, WebMD, AAPOS, and AOA also had average grade levels above the recommended guidelines. CONCLUSIONS The readability of online patient education material exceeds NIH and AMA guidelines. This disparity can adversely affect caregiver comprehension of such resources and contribute to poor decision making. Pediatric ophthalmology online articles are generally written at a level too high for average caregiver comprehension. Revision of articles can increase satisfaction, improve outcomes, and facilitate the patient-ophthalmologist relationship.

The kerion: an angry tinea capitis.

Tinea capitis has a high incidence with a global changing pathogen distribution, making this condition a public health concern around the world. As the infection is initially asymptomatic, it is easily spread. Moreover, it is present in many fomites, including hairbrushes, pillows, and bedding. Prompt recognition and treatment is necessary for kerion, an inflammatory subtype characterized by tender boggy plaques with purulent drainage. Kerion is usually associated with infection by zoophilic dermatophytes, although other sources have been described. Treatment for this severe form of dermatophytic infection can be challenging. In addition to the use of topical treatments, oral administration of griseofulvin, terbinafine, itraconazole, or fluconazole is often required. Griseofulvin, the first‐line treatment, may not completely eradicate pathogen colonization of the host and may contribute to reinfection and prevalence of infective but asymptomatic carriers. This review highlights new agents that are being evaluated for the treatment of kerion and typical tinea capitis, enhanced diagnostic criteria, and a grading system for kerion evaluation.

Diagnostic Accuracy of Reflectance Confocal Microscopy Skin

CONTEXT.— Histopathology is the current standard to diagnose skin disease. However, biopsy may not always be feasible, such as in patients with multiple nevi, a patient with a lesion on an aesthetically significant site, or in children. Recently, noninvasive techniques, including reflectance confocal microscopy (RCM), optical coherence tomography, and Raman spectroscopy, have enabled dermatologists to manage skin lesions in real time without the need for biopsy. OBJECTIVE.— To report the updated diagnostic accuracy of RCM for equivocal skin lesions. DESIGN.— In this study, we retrospectively reviewed our data of clinically suspicious lesions from 2010 to 2017 that were evaluated by RCM. RESULTS.— Our results showed an overall sensitivity of 98.2% and specificity of 99.8%. CONCLUSIONS.— In conclusion, RCM is a noninvasive real-time tool with the potential to diagnose skin lesions with high accuracy and without biopsy.

Cutaneous Lesions of HIV-Positive Patients

Human immunodeficiency virus (HIV) is associated with several cutaneous conditions, including molluscum contagiosum, condyloma acuminata and, Kaposi sarcoma. Many treatment modalities, including physical ablation, chemical topical agents, immunomodulators, and antiviral treatments, have been employed to treat these. One treatment that has shown success is cryosurgery. Since recurrence and more aggressive disease is associated with HIV infection, close monitoring and repetition of treatments are often necessary.

1910: MALIGNANT MELANOMA SHOWING TYPICAL ATYPIA.

Learning Objectives: Histological recognition of melanoma is essential to its diagnosis and appropriate treatment. Often, the tell-tale signs are skewed. Methods: A 57 year old male with no family history of melanoma developed a 1-cm skin colored nodular lesion on the skin of his right forearm over three months. Biopsy showed a uniform melanocytic lesion with virtually no pleomorphism giving the impression of a bland lesion. A diagnosis of nevocellular nevus was rendered by a general pathologist and the lesion was excised without determination of clear margins. Twenty-one months later, the patient presented to the ER due to respiratory failure with oxygen saturation of 84% despite administration of oxygen, diuresis, and bipap. Patient was intubated and admitted to the ICU for further management. CXR showed large pleural effusion, and CT chest showed multiple lesions and large pleural effusion. A thoracentesis with fluid analysis and bronchoscopy with biopsy were performed. The effusion was determined to be a malignant effusion. The lesions were pathologically identical and consistent with metastatic melanoma. A full body scan showed multiple metastatic lesions on the skin, in the liver, and in the brain. The patient was stabilized and transferred to hospice, where he succumbed three months later. All lesions showed identical morphology. The final diagnosis was melanoma showing cellular atypia; each cell was atypical but they were all atypical in the same way, producing a lesion with little or no pleomorphism but marked cellular atypia. Results: A pitfall in diagnosis of melanoma is inability to identify unusual histological features. Variants, such as nevoid malignant melanoma, minimal deviation melanoma, nodular melanoma, and melanoma arising in a nevus, may have clinical and histological features that closely resemble a benign entity. Features such as high mitotic activity, unclear tissue margins, and obvious pleomorphism are often lacking in these lesions. One telltale sign, cellular atypia, is usually present in these variants and should alarm pathologists to the diagnosis of melanoma.