Faculty Bibliography

BACKGROUND:Malignant angiomyolipoma is an uncommon tumor of the class of perivasciular epithelioid cell neoplasms (PEComas). These tumors are characteristically driven by deleterious mutations in the tumor suppressors TSC1 and TSC2, whose gene products typically act to inhibit mTOR. There are several cases of malignant angiomyolipoma which exhibit transient responses to mTOR inhibitors, forming the basis of current practice guidelines in malignant PEComa. However the tumors ultimately acquire resistance, and there is no well-established second-line option. Despite the increasing prevalence of immunotherapy across a wide range of solid tumors, little is known about the immune infiltrate and PD-L1 expression of angiomyolipoma. Furthermore, there is no reported case on the treatment of malignant angiomyolipoma with an immune checkpoint inhibitor. CASE PRESENTATION/METHODS:A 38 year-old man presented with gross hematuria and was diagnosed with renal epithelioid angiomyolipoma. Despite surgical resection, the tumor recurred and metastasized. Targeted genomic sequencing revealed a deleterious mutation in TSC2, and the patient was treated with the mTOR inihbitor everolimus. The patient went on to have a partial response but ultimately progressed. He was then treated with the anti-PD-1 immune checkpoint inhibitor nivolumab, and achieved a durable near-complete response which is ongoing after two years of treatment. Immunohistochemical staining of tumor tissue revealed strong PD-L1 expression and a brisk T-cell infiltrate. CONCLUSIONS:We report on the first durable systemic treatment of malignant epithelioid angiomyolipoima with the use of PD-1 antibody nivolumab. Given the absence of prospective clinical trials in this exceedingly rare disease, particularly in the second-line setting, immune checkpoint inhibitors like nivolumab should be considered.

Background: Lichen Planus (LP) is a chronic idiopathic disorder of the skin, nails, and mucous membranes with a varied clinical presentation. This study describes the epidemiology and treatment of LP patients treated in a large tertiary medical center.
Method(s): This retrospective chart review identified 294 patients with biopsy-proven LP seen within the dermatology department at NYU Langone Medical Center from January 1, 2005, September 5, 2016. Patients were identified using ICD code-based queries (ICD-9 697.0, ICD-10 L43.0-L43.9). Demographic, physical examination, pathologic, laboratory, and treatment data were extracted.
Result(s): Of 294 participants, 65% were female. Fifty-five percent were white, 16% black, 12% South Asian, 10% Hispanic, and 6% Asian. Mean age at symptom-onset, presentation, and diagnosis was 46.7, 51, and 49.9 years, respectively. Initial misdiagnosis occurred in 15.6% of patients. Of individuals for whom physical examination was recorded (n = 282), 35.1% had documented mucosal involvement (59.6% oral only, 19.2% genital only, and 21.2% both oral and genital). Cutaneous involvement was seen in 69.5% of patients with mucosal involvement of only the oral cavity, compared with 36.8% with only genital involvement. Pruritus was the most common symptom (57.3%). Hepatitis C testing was performed in 38.3% of patients; 9.7% of those tested were positive. Sixty-seven percent were treated with topicals only and 27.5% received systemic therapy. In total, 20 systemic agents were used; prednisone was used most commonly, followed by cyclosporine and hydroxychloroquine. Of patients on systemic therapies, 28.4% required 2 or more systemic agents during their course.
Conclusion(s): This is the largest study to date to describe the epidemiology and treatment of lichen planus. Lichen planus is most common among women, has a mean age of onset of 46.7 years, and most commonly presents with pruritus. Mucosal involvement is present in 35.1% of individuals, most commonly involving the oral cavity. Patients with only oral involvement had a higher rate of cutaneous involvement than subjects with only genital involvement. The majority of patients did not receive hepatitis C testing, but 9.7% of those with test results were positive. Topical monotherapy was often insufficient, and 27.5% of patients required systemic therapy. Systemic therapy most commonly included the use of corticosteroids, although many required therapy with multiple systemic agents.
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Raynaud's phenomenon (RP) is a transient, acral, vasospastic phenomenon that manifests with characteristic color changes. This vasospasm, classically triggered by cold temperatures, may also be driven by shifts in temperature, climate, or emotional state. Primary RP (PRP) is a common condition without severe sequelae. Secondary RP (SRP), which may be driven by vascular, autoimmune, hematologic, or endocrine etiologies, can result in digital ulceration, irreversible ischemia and necrosis, and secondary infection. This review delineates the clinical manifestations of both primary and secondary RP, as well as the current understanding of RP epidemiology and pathogenesis. Proper examination, including nailfold capillary microscopy, and laboratory workup for secondary causes of RP are also discussed. The traditional armamentarium of therapies used for RP, as well as newer medical and surgical options, is also summarized with particular regard to the clinical evidence for their efficacy.

Epidermolysis bullosa acquisita (EBA) is a rare, acquired subepidermal blistering disease. EBA is characterized by autoantibodies to collagen VII,which serves to link the epidermis to the dermis. The two most common presentations of EBA are classical noninflammatory EBA and bullous pemphigoid-like EBA. Diagnosis of EBA can be challenging as it sharesclinical and histopathologic features with other blistering diseases. Treatment is often recalcitrant and will often necessitate multiple therapies. We presenta case of a thirty-six-year-old Chinese man with EBA and review the literature.

We present a 57 year-old man presented with generalized hyperhidrosis and widespread, smooth, flesh colored papules on the torso and extremities.Histological examination from multiple biopsies demonstrated morphologic alteration of the eccrine glands with an apocrine phenotype, suggesting eitherapocrine metaplasia or the presence of "apoeccrine glands." The morphologic similarities between eccrine, apocrine, and apoeccrine as they relate to ourpatient's histologic findings are discussed. We consider secondary causes of generalized hyperhidrosis, which may also play a role in this patient's presentation. Treatment and further workup are discussed, whilemanagement of this patient remains in progress.

Anetoderma is a rare benign elastolytic disorder that is characterized by focal loss of elastin fibers on histopathology and is often recalcitrant to treatment. We present a case of a patient with a 20-year history of pruritic and painful hyperpigmented atrophic papules clustered on the neck, axillae, inframammary folds, and right medial thigh. Although the histopathologyof her axillary lesions was consistent with anetoderma, her clinical presentation is unusual given the extent of involvement, reported pain and pruritus, and sharp demarcation of the distribution. The diagnosticuncertainty of this case led to added difficulty in management of a disease that is already notoriously difficult to treat and may significantly impact patient's quality of life.

PURPOSE OF REVIEW: First recognized in 1974, eosinophilic fasciitis (EF) is a fibrosing disorder of the fascia with characteristic cutaneous and hematologic manifestations. This review discusses recent trends in the diagnosis and treatment of EF. RECENT FINDINGS: Although fascial biopsy has classically been considered the gold standard for making a diagnosis of EF, radiologic imaging, particularly magnetic resonance imaging, has been increasingly used for both diagnosis and monitoring of treatment response. Systemic corticosteroids remain the first-line treatment for EF; however, their often prolonged use in the treatment of EF has prompted a search for adjunctive therapies. Methotrexate has emerged as the leading corticosteroid-sparing agent for EF. Since EF was initially described over 40 years ago, important diagnostic and therapeutic progress has been made. Future efforts should be directed at the pursuit of prospective studies including clinical trials and evidence-based guidelines.

Idiopathic granulomatous mastitis (IGM) is a chronic inflammatory disease characterized by tender, erythematous, indurated breast plaques with associated edema, drainage, and scar formation.1 IGM is often mistaken for breast carcinoma or infectious mastitis.1,2 Histopathology readily distinguishes IGM from breast carcinoma, as the primary finding in IGM is granulomas centered around mammary lobules.3 Nevertheless, differentiating IGM from bacterial mastitis and other mimickers, such as atypical mycobacterial infections or sarcoidosis, can be more difficult.4 Herein, we report the largest case series of concurrent IGM and erythema nodosum (EN)