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Roberto Novoa, MD

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Specialties

Pathology and Laboratory Medicine

Dermatology

Work and Education

Professional Education

Harvard Medical School, Boston, MA, 06/04/2009

Internship

Columbia University Medical Center, New York, NY, United States of America, 6/14/2010

Residency

University Hospitals-Case Medical Center, Cleveland, OH, United States of America, 6/30/2013

Fellowship

University of Pennsylvania Registrar's Office, Philadelphia, PA, 6/30/2014

Board Certifications

Dermatology, American Board of Dermatology

Dermatopathology, American Board of Dermatology

All Publications

Automated Classification of Skin Lesions: From Pixels to Practice. The Journal of investigative dermatology Narla, A., Kuprel, B., Sarin, K., Novoa, R., Ko, J. 2018; 138 (10): 210810

Abstract

The letters "Interpretation of the Outputs of Deep Learning Model trained with Skin Cancer Dataset" and "Automated Dermatological Diagnosis: Hype or Reality?" highlight the opportunities, hurdles, and possible pitfalls with the development of tools that allow for automated skin lesion classification. The potential clinical impact of these advances relies on their scalability, accuracy, and generalizability across a range of diagnostic scenarios.

View details for PubMedID 30244720

Dermatologist-level classification of skin cancer with deep neural networks. Nature Esteva, A., Kuprel, B., Novoa, R. A., Ko, J., Swetter, S. M., Blau, H. M., Thrun, S. 2017; 542 (7639): 115-118

Abstract

Skin cancer, the most common human malignancy, is primarily diagnosed visually, beginning with an initial clinical screening and followed potentially by dermoscopic analysis, a biopsy and histopathological examination. Automated classification of skin lesions using images is a challenging task owing to the fine-grained variability in the appearance of skin lesions. Deep convolutional neural networks (CNNs) show potential for general and highly variable tasks across many fine-grained object categories. Here we demonstrate classification of skin lesions using a single CNN, trained end-to-end from images directly, using only pixels and disease labels as inputs. We train a CNN using a dataset of 129,450 clinical images-two orders of magnitude larger than previous datasets-consisting of 2,032 different diseases. We test its performance against 21 board-certified dermatologists on biopsy-proven clinical images with two critical binary classification use cases: keratinocyte carcinomas versus benign seborrheic keratoses; and malignant melanomas versus benign nevi. The first case represents the identification of the most common cancers, the second represents the identification of the deadliest skin cancer. The CNN achieves performance on par with all tested experts across both tasks, demonstrating an artificial intelligence capable of classifying skin cancer with a level of competence comparable to dermatologists. Outfitted with deep neural networks, mobile devices can potentially extend the reach of dermatologists outside of the clinic. It is projected that 6.3 billion smartphone subscriptions will exist by the year 2021 (ref. 13) and can therefore potentially provide low-cost universal access to vital diagnostic care.

View details for DOI 10.1038/nature21056

View details for PubMedID 28117445

ALK-positive compound Spitz nevus with extensive perineural and intraneural neurotropism. Journal of cutaneous pathology Brown, R. A., Wang, J. Y., Raghavan, S. S., Zhang, J., Wan, D. C., Born, D., Koo, M., Hazard, F. K., Novoa, R. A., Rieger, K. E. 2020

View details for DOI 10.1111/cup.13890

View details for PubMedID 33034114

Cutaneous T-cell lymphomas with pathogenic somatic mutations and absence of detectable clonal T-cell receptor gene rearrangement: two case reports. Diagnostic pathology Rojansky, R., Fernandez-Pol, S., Wang, E., Rieger, K. E., Novoa, R. A., Zehnder, J. L., Kunder, C. A., Kim, Y. H., Khodadoust, M. S., Brown, R. A. 2020; 15 (1): 122

Abstract

BACKGROUND: Cutaneous T-cell lymphomas (CTCL) are a heterogeneous group of extranodal non-Hodgkin lymphomas for which diagnosis can be challenging given the potential for overlap with inflammatory dermatoses. Current diagnostic criteria for CTCL incorporate clinical and histopathologic findings as well as results of T-cell receptor (TCR) gene sequencing. Molecular interrogation of TCR genes, TRG and TRB, has provento be a critical tool for confirming diagnoses of CTCL and for disease tracking after initiation of therapy or after stem cell transplant. Methods for confirming a diagnosis of lymphoma in the absence of TCR gene clonality are lacking. We present two patients with CTCL with pathogenic somatic mutations in the absence of TRG and TRB clonality.CASE PRESENTATIONS: Case 1: A 38-year-old male had a 19-year history of a diffuse skin rash with papulosquamous, granulomatous, and verrucous features and progressive ulcerated plaques and tumors demonstrating an atypical CD4+ T-cell infiltrate with expression of cytotoxic markers CD56, TIA-1, granzyme, and perforin on histopathology. No definitive evidence for T-cell clonality was detected by conventional PCR of 6 biopsies or by next-generation sequencing (NGS) of 14 biopsies. Somatic mutational profiling of a skin biopsy revealed pathogenic mutations in PIKC3D and TERT promoter hotspots, confirming the presence of a clonal process. Case 2: A 69-year-old male with a 13-year history of progressive, diffuse hypertrophic and eroded plaques showed an atypical CD4+ T-cell infiltrate with subset expression of TIA-1 and granzyme on histopathology. No TCR clonality was detected by TCR-NGS of 6 biopsies. Somatic mutational profiling of a skin biopsy detected a pathogenic mutation in TP53, confirming the presence of a clonal process.CONCLUSIONS: These cases highlight how detection of pathogenic somatic mutations can confirma diagnosis of lymphoma in a clinically and histopathologically suspicious cutaneous lymphoid proliferation without detectable TCR clonality.

View details for DOI 10.1186/s13000-020-01022-x

View details for PubMedID 32988392

Imatinib as a potentially effective therapeutic alternative in corticosteroid-resistant eosinophilic fasciitis. Pediatric dermatology Wu, T. T., Goodarzi, H., Wang, J., Novoa, R., Teng, J. M. 2020

Abstract

Eosinophilic fasciitis (EF) is a rare condition in children that is typically treated with systemic corticosteroids. We present the case of a 9-year-old boy with biopsy-proven EF, refractory to systemic corticosteroids and methotrexate. The tyrosine kinase inhibitor imatinib was added as adjuvant therapy, leading to improvement in joint function and skin laxity. Our case is the first to suggest the anti-fibrotic properties of imatinib may benefit EF patients.

View details for DOI 10.1111/pde.14327

View details for PubMedID 32970342

PRAME expression in melanocytic proliferations with intermediate histopathologic or spitzoid features. Journal of cutaneous pathology Raghavan, S. S., Wang, J. Y., Kwok, S., Rieger, K. E., Novoa, R. A., Brown, R. A. 2020

Abstract

BACKGROUND: PRAME (PReferentially expressed Antigen in MElanoma) has shown utility in distinguishing melanoma from benign melanocytic lesions, but knowledge of its expression pattern in intermediate melanocytic and spitzoid proliferations is limited.METHODS: Immunohistochemical expression of PRAME was examined in 112 melanocytic proliferations with intermediate histopathologic or spitzoid features.RESULTS: Any intensity of PRAME staining in at least 60% of lesional melanocytes was determined as the best threshold for diffuse staining in this cohort. Nearly all non-spitzoid melanomas (23/24; 95.8%) demonstrated diffuse PRAME expression. PRAME was completely negative in 95.6% (43/45) of mitotically-active nevi, traumatized nevi, nevi with persistent/recurrent features, and dysplastic nevi. Most Spitz nevi (15/20) and atypical Spitz tumors (10/13) entirely lacked PRAME expression. One Spitz nevus, one atypical Spitz tumor, and one case of spitzoid melanoma (1/2) demonstrated diffuse PRAME expression.CONCLUSIONS: Although diffuse PRAME expression is generally limited to malignant melanoma, benign Spitz nevi and atypical Spitz tumors can infrequently express diffuse PRAME. PRAME immunohistochemistry can be useful in the evaluation of atypical melanocytic proliferations with intermediate histopathologic features but should be interpreted with caution in the setting of spitzoid neoplasms. This article is protected by copyright. All rights reserved.

View details for DOI 10.1111/cup.13818

View details for PubMedID 32700786

Differentiation syndrome during ivosidenib treatment with immunohistochemistry showing isocitrate dehydrogenase R132H mutation. Journal of cutaneous pathology Tabata, M. M., Chase, M., Kwong, B. Y., Novoa, R. A., Fernandez-Pol, S. 2020

Abstract

We report a case of differentiation syndrome in a patient receiving the IDH1 inhibitor ivosidenib, with skin biopsy showing isocitrate dehydrogenase (IDH) R132H-mutated leukemia cutis. A 72-year-old man with IDH1-mutated acute myeloid leukemia (AML), status-post allogeneic cell transplantation, on ivosidenib for six months, was admitted for culture-negative neutropenic fever, pink and purpuric plaques and patches on the legs, abdomen and back, edema, hypotension, and shortness of breath. Skin biopsy revealed an infiltrate of atypical, immature, myeloperoxidase-positive mononuclear cells compatible with leukemia cutis or Sweet syndrome. Although dermal edema and interstitial neutrophilic infiltrate with karyorrhexis characteristic of Sweet syndrome were not seen, the atypical cells lacked expression of CD117 and CD34, which were expressed in the original leukemia. Additional immunohistochemical staining of suspected blasts was strongly positive for IDH1 R132H, suggesting a diagnosis of leukemia cutis. As the immunophenotype of blasts in skin infiltrates can significantly differ from the immunophenotype seen in blood and bone marrow, this case demonstrates that mutation-specific antibodies such as anti-IDH1 R132H may be useful to help distinguish malignant from non-malignant infiltrates in the skin. Furthermore, differentiation syndrome may demonstrate histologic features of leukemia cutis on skin biopsy. This article is protected by copyright. All rights reserved.

View details for DOI 10.1111/cup.13780

View details for PubMedID 32588467

Diagnostic Utility of LEF1 Immunohistochemistry in Differentiating Deep Penetrating Nevi From Histologic Mimics. The American journal of surgical pathology Raghavan, S. S., Saleem, A., Wang, J. Y., Rieger, K. E., Brown, R. A., Novoa, R. A. 2020

Abstract

Deep penetrating nevi (DPNs) are intermediate grade lesions which have the capacity to recur, metastasize, or progress to melanoma. Differentiating DPN from other melanocytic lesions including blue and cellular blue nevi can be diagnostically challenging, and markers to distinguish these entities can be useful. Mutations of the beta-catenin and mitogen-activated protein kinase pathways have recently been elucidated as distinctive of DPN. This pathway can subsequently activate lymphoid enhancer-binding factor 1 (LEF1), a transcription factor shown to facilitate the epithelial-mesenchymal transition to propagate tumorigenesis. Seventy-two cases in total were examined on hematoxylin and eosin sections and with beta-catenin and LEF1 immunohistochemistry. This included: DPN (14), cellular blue nevi (19), blue nevi (15), congenital melanocytic nevi (12), and melanoma (12). Nuclear expression of LEF1, present throughout the entire depth of the lesion, was noted in 13/14 (93%) of DPN, 0/19 (0%) of cellular blue nevi, 0/15 (0%) of blue nevi, 1/12 (8%) of congenital melanocytic nevi, and 9/12 (75%) of melanoma cases. Nuclear expression of beta-catenin, present throughout the entire depth of the lesion, was noted in 14/14 (100%) of DPN, 0/18 (0%) of cellular blue nevi, 0/15 (0%) of blue nevi, 1/12 (8%) of congenital melanocytic nevi, and 1/12 (8%) of melanoma cases. A majority of congenital melanocytic nevi demonstrated a gradient of LEF1 and beta-catenin expression with more intense staining superficially and loss of staining with increasing depth. Deep, uniform nuclear LEF1 combined with beta-catenin immunohistochemical staining can be useful in distinguishing DPN from histologic mimics.

View details for DOI 10.1097/PAS.0000000000001513

View details for PubMedID 32520758

TERT and TERT promoter in melanocytic neoplasms: current concepts in pathogenesis, diagnosis, and prognosis. Journal of cutaneous pathology Motaparthi, K., Kim, J., Andea, A. A., Missall, T. A., Novoa, R. A., Vidal, C. I., Fung, M. A., Emanuel, P. O. 2020

Abstract

BACKGROUND AND OBJECTIVE: Located on chromosome locus 5p15.33, telomerase reverse transcriptase (TERT or hTERT) encodes the catalytic subunit of telomerase which permits lengthening and preservation of telomeres following mitosis. Mutations in TERT promoter (TERT-p) upregulate expression of TERT, allowing survival of malignant cells and tumor progression in wide variety of malignancies including melanoma. The objective of this review is to examine the roles of TERT and TERT-p in the pathogenesis, diagnosis, and prognostication of cutaneous melanoma.METHODS: All studies of TERT or TERT-p in cutaneous melanocytic neoplasms with the following inclusion criteria were reviewed: publication date between 2010-2019, English language, and series of 3 cases were reviewed for evidence supporting the role of TERT in pathogenesis, diagnosis, and prognosis prognosis. Studies with <3 cases or focused primarily on mucosal or uveal melanocytic tumors were excluded.RESULTS AND CONCLUSION: TERT-p mutations are frequent in chronic and non-chronic sun damage melanoma and correlate with adverse prognosis, inform pathogenesis, and may provide diagnostic support. While TERT-p mutations are uncommon in acral melanoma, TERT copy number gains and gene amplification predict reduced survival. Among atypical spitzoid neoplasms, TERT-p mutations identify biologically aggressive tumors and support the diagnosis of spitzoid melanoma. TERT-p methylation may have prognostic value in pediatric conventional melanoma and drive tumorigenesis in melanoma arising within congenital nevi. Lastly, TERT-p mutations may aid in the differentiation of recurrent nevi from recurrent melanoma. This article is protected by copyright. All rights reserved.

View details for DOI 10.1111/cup.13691

View details for PubMedID 32202662

Cutaneous Pleomorphic Fibromas Arising in Patients with Germline TP53 Mutations. Journal of cutaneous pathology Cloutier, J. M., Shalin, S. C., Lindberg, M., Gardner, J. M., Fernandez-Pol, S., Zaba, L., Novoa, R., Brown, R. A. 2020

Abstract

Pleomorphic fibromas are rare benign cutaneous neoplasms associated with deletion/loss of chromosomes 13q and 17p, where RB1 and TP53 are located, respectively. Herein, we report five cases of pleomorphic fibroma arising in patients with germline TP53 mutations, suggesting a potential link with Li-Fraumeni syndrome. All three patients were female and young (mean age 27) with a strong personal and/or family oncologic history and confirmed pathogenic germline TP53 mutations. In two patients, multiple pleomorphic fibromas were diagnosed. Clinically, the lesions arose at various cutaneous sites and were small (2cm) and raised (4/5). Histologically, the tumors were paucicellular, comprised of atypical spindled to stellate cells with hyperchromatic and variably pleomorphic nuclei. Mitotic activity was exceedingly low, although rare atypical mitotic figures were seen in one case. Immunohistochemically, the tumor cells were diffusely positive for p16 (3/3) and showed loss of Rb expression (5/5). All cases showed aberrant p53 expression (overexpression in 4, complete loss in 1). The tumors have followed a benign clinical course with no evidence of progression or recurrence. In conclusion, the development of multiple pleomorphic fibromas in a young patient may be a clue to an underlying genetic cancer syndrome involving TP53. This article is protected by copyright. All rights reserved.

View details for DOI 10.1111/cup.13686

View details for PubMedID 32187703

Disseminated Tuberculosis Presenting as Medium-Vessel Vasculitis in an Immunocompromised Host. Journal of cutaneous pathology Wang, J. Y., Brown, R. A., Pugliese, S., Kwong, B. Y., Novoa, R. A. 2020

Abstract

Cutaneous tuberculosis is an uncommon entity with several clinical forms recognized. Histopathologically, most cases are characterized by granulomatous inflammation and caseating necrosis, though less common findings, including vasculitis, have also been described. We report a 55-year-old male with a history of recently diagnosed dermatomyositis receiving immunosuppression with mycophenolate mofetil and prednisone, who developed multifocal soft tissue abscesses and an indurated erythematous plaque on the back. Skin biopsy of the back revealed a necrotizing medium-vessel vasculitis. M. tuberculosis was detected in the skin via acid-fast bacilli stain and confirmed by tissue culture and polymerase chain reaction. Cutaneous findings improved rapidly with anti-tuberculosis therapy. This case illustrates an uncommon clinical and histopathologic presentation of disseminated tuberculosis. This article is protected by copyright. All rights reserved.

View details for DOI 10.1111/cup.13678

View details for PubMedID 32133689

Comparison of C3d immunohistochemical staining to ELISA and immunofluorescence for diagnosis of bullous pemphigoid. Journal of the American Academy of Dermatology Wang, L. L., Moshiri, A. S., Novoa, R., Simpson, C. L., Takeshita, J., Payne, A. S., Chu, E. Y. 2020

Abstract

BACKGROUND: Bullous pemphigoid (BP), the most common autoimmune blistering disease, may be diagnostically challenging. Direct immunofluorescence (DIF), indirect immunofluorescence (IIF), enzyme-linked immunosorbent assay (ELISA), and recently, C3d immunohistochemistry (IHC), are used as adjuncts to diagnosis.OBJECTIVE: To compare C3d IHC to DIF, IIF, and ELISA testing in BP diagnosis.METHODS: C3d IHC was performed on skin biopsies from a total of 51 patients (27 BP patients and 24 patients with other blistering diseases) and compared to DIF and IIF, using anti-BP180 or anti-BP230 ELISA results as the gold standard.RESULTS: We found C3d IHC, DIF and IIF had similar sensitivity (74.1%, 63.1%, 70.4%), specificity (95.8%, 100%, 100%), positive predictive value (95.2%, 100%, 100%), and negative predictive value (76.7%, 70.6%, 75%) for BP. Cases with positive C3d IHC, DIF and IIF had significantly higher anti-BP180 and anti-BP230 by ELISA than cases with negative testing (p<0.0001). False-negative IIF was associated with lower BP230 compared to true-positives (p=0.03).LIMITATIONS: This was a single-center, retrospective study.CONCLUSION: Our study compared C3d IHC to DIF and IIF in BP diagnosis, demonstrating C3d IHC on fixed tissue provides similar diagnostic utility to immunofluorescence and ELISA.

View details for DOI 10.1016/j.jaad.2020.02.020

View details for PubMedID 32068042

Histopathologic Characterization of Mogamulizumab-associated Rash. The American journal of surgical pathology Wang, J. Y., Hirotsu, K. E., Neal, T. M., Raghavan, S. S., Kwong, B. Y., Khodadoust, M. S., Brown, R. A., Novoa, R. A., Kim, Y. H., Rieger, K. E. 2020

Abstract

Rash is one of the most common adverse events observed with mogamulizumab, an anti-C-C chemokine receptor 4 monoclonal antibody approved for previously treated mycosis fungoides (MF) and Sezary syndrome (SS). Given the nonspecific clinical presentations of this rash, histopathologic distinction from MF/SS is critical for informing clinical management. We performed a comprehensive characterization of the histopathologic findings in mogamulizumab-associated rash (MAR) with the integration of high-throughput sequencing of T-cell receptor (TCR) genes. Fifty-two biopsy specimens from 19 patients were evaluated retrospectively. Three major histologic reaction patterns were identified: spongiotic/psoriasiform dermatitis (33/52), interface dermatitis (11/52), and granulomatous dermatitis (8/52). Almost half of the specimens (21/52) showed at least 2 of these reaction patterns concurrently. Dermal eosinophils were not a consistent feature, being present in only half (27/52) of specimens and prominent in only 3. Features mimicking MF/SS, including lymphocyte exocytosis, lamellar fibroplasia, and adnexal involvement, were commonly seen but tended to be focal and mild. In 38/43 specimens with available immunohistochemistry, intraepidermal lymphocytes demonstrated a CD4:CD8 ratio 1:1. Low background levels of the patient's previously identified MF/SS-associated TCR sequence(s) were demonstrated in 20/46 specimens analyzed by high-throughput sequencing of TCR. We conclude that MAR may demonstrate diverse histologic features. Findings that may distinguish MAR from MF/SS include the inverted or normalized CD4:CD8 ratio within intraepidermal lymphocytes and demonstration of absent or nondominant levels of disease-associated TCR sequences. Correlation with the clinical findings and immunohistochemical and molecular characterization of the patient's MF/SS before mogamulizumab, when possible, may facilitate recognition of MAR.

View details for DOI 10.1097/PAS.0000000000001587

View details for PubMedID 32976123

Simultaneous Coccidioidomycosis and Phaeohyphomycosis in a Kidney Transplant Recipient: A Case Report and Literature Review. Transplant infectious disease : an official journal of the Transplantation Society Puing, A. G., Couture-Cossette, A., Wang, A. X., Zygourakis, C. C., Cheng, X., Stevens, B. A., Banaei, N., Novoa, R. A., Ho, D. Y., Subramanian, A. 2020: e13365

Abstract

Advances in solid organ transplantation have improved the survival of end-stage organ disease at the expense of an increased risk for opportunistic infections. Unusual clinical presentations and the possibility of concurrent infections make diagnosing invasive fungal infection (IFI) more difficult. Here we present a case of simultaneous vertebral infection caused by Coccidioides immitis-posadasii and subcutaneous phaeohyphomycosis due to Nigrograna mackinnonii in a kidney transplant recipient. The diagnosis of both infections required invasive procedures to obtain tissue and a high index of suspicion that more than one IFI could be present. A multidisciplinary team approach for the management of immunocompromised patients with suspected or diagnosed IFI is warranted.

View details for DOI 10.1111/tid.13365

View details for PubMedID 32533741

Shoshin beriberi in a patient with oral and cutaneous graft-versus-host disease JAAD Case Reports Hodgkinson, L. M., Shah, A., Bae, G. H., Novoa, R., Kwong, B. Y. 2020; 6 (5): 420-421
Diffuse PRAME expression is highly specific for malignant melanoma in the distinction from clear cell sarcoma. Journal of cutaneous pathology Raghavan, S. S., Wang, J. Y., Toland, A., Bangs, C. D., Rieger, K. E., Novoa, R. A., Charville, G. W., Brown, R. A. 2020

View details for DOI 10.1111/cup.13812

View details for PubMedID 32681554

Reticulohistiocytoma (solitary epithelioid histiocytoma) with mutations in RAF1 and TSC2. Journal of cutaneous pathology Bahrani, E., Fernandez-Pol, S., Wang, J. Y., Aasi, S. Z., Brown, R. A., Novoa, R. A. 2020

View details for DOI 10.1111/cup.13727

View details for PubMedID 32342514

Shoshin beriberi in a patient with oral and cutaneous graft-versus-host disease. JAAD case reports Hodgkinson, L. M., Shah, A., Bae, G. H., Novoa, R., Kwong, B. Y. 2020; 6 (5): 42021

View details for DOI 10.1016/j.jdcr.2020.02.031

View details for PubMedID 32382634

View details for PubMedCentralID PMC7200185

Inflammatory alopecia in patients on dupilumab: a retrospective cohort study at an academic institution. Journal of the European Academy of Dermatology and Venereology : JEADV Zhu, G. A., Kang, K. J., Chen, J. K., Novoa, R. A., Brown, R. A., Chiou, A. S., Ko, J. M., Honari, G. 2019

Abstract

Dupilumab targets IL-4Ralpha and is used for moderate-to-severe atopic dermatitis (AD). Prior reports have described new alopecia areata (AA),1 flaring of prior AA,2 as well as improvement or resolution of AA3 in patients treated with dupilumab. We conducted a retrospective cohort study to describe the natural history of prior or new inflammatory alopecia in patients on dupilumab.

View details for DOI 10.1111/jdv.16094

View details for PubMedID 31737955

Validation of Image Quality and Diagnostic Accuracy Using a Mobile Phone Camera Microscope Adaptor Compared With Glass Slide Review in Teledermatopathology. The American Journal of dermatopathology Laggis, C. W., Bailey, E. E., Novoa, R., Stewart, C. L., Stoff, B., Wanat, K. A., Barbieri, J., Kovarik, C. 2019

Abstract

New modalities of evaluating histopathology, such as whole-slide imaging, have been validated in the field of dermatopathology but are often unfeasible and unavailable in developing countries. Widely available across the globe, mobile phone camera technology represents a potential simple and inexpensive method of imaging histologic slides through the use of a mobile phone camera microscope adaptor. This study aims to validate the use of a commercially available adaptor in the diagnosis of inflammatory and infectious conditions in dermatopathology. Representative images were taken of slides for fifty-four cases using the adaptor and shared through a cloud-based platform with five dermatopathologists who rendered diagnoses and judged the quality of the images. After a washout period of 8 weeks, the same cases were assessed by the same dermatopathologists using the original glass slides. The intraobserver concordance rate was 93.3%, and the quality of the mobile phone images was rated as "excellent" or "diagnostic" in 94.4% of the cases. This study validates the use of this low-tech and low-cost adaptor as a reliable tool in teledermatopathology. Limitations of the study include those inherent to use of the adaptor and the limited panel of diagnoses. The primary value of this device may be in developing countries, but its practicality and ease of use lend itself to use in academic and consultative settings in the developed world as well.

View details for DOI 10.1097/DAD.0000000000001529

View details for PubMedID 31633596

Marking the Path Toward Artificial Intelligence-Based Image Classification in Dermatology. JAMA dermatology Novoa, R. A., Gevaert, O., Ko, J. M. 2019

View details for DOI 10.1001/jamadermatol.2019.1633

View details for PubMedID 31411643

Atypical Fibroxanthoma and Pleomorphic Dermal Sarcoma Updates on Classification and Management DERMATOLOGIC CLINICS Soleymani, T., Aasi, S. Z., Novoa, R., Hollmig, S. 2019; 37 (3): 253-+
Atypical Fibroxanthoma and Pleomorphic Dermal Sarcoma: Updates on Classification and Management. Dermatologic clinics Soleymani, T., Aasi, S. Z., Novoa, R., Hollmig, S. T. 2019; 37 (3): 25359

Abstract

Atypical fibroxanthoma and undifferentiated pleomorphic sarcoma, or pleomorphic dermal sarcoma, are rare malignant cutaneous neoplasms existing along a clinicopathologic spectrum. Although these tumors share many similarities, recognition of distinguishing characteristics may predict differences in clinical behavior and outcomes. Salient features defining atypical fibroxanthoma include superficial tumors with minimal high-risk histologic features. Deeper tumors with high-risk histologic features are often clinically aggressive and should be appropriately designated as pleomorphic dermal sarcoma. Surgery remains gold standard in management; tumor extirpation with complete margin control is critical. In the high-risk tumor cohort, comprehensive evaluation and multidisciplinary management is paramount for optimal outcomes.

View details for PubMedID 31084719

Biomarker discovery analysis: Alterations in p14, p16, p53, and BAP1 expression in nevi, cutaneous melanoma, and metastatic melanoma PIGMENT CELL & MELANOMA RESEARCH Sargen, M. R., Cloutier, J. M., Sarin, K. Y., Rieger, K. E., Chu, P., Swetter, S. M., Novoa, R. A. 2019; 32 (3): 47478

View details for DOI 10.1111/pcmr.12768

View details for Web of Science ID 000465607700016

Dermatology, Data, and Informatics INTRODUCTION SEMINARS IN CUTANEOUS MEDICINE AND SURGERY Novoa, R. 2019; 38 (1): E1E2
Artificial intelligence and dermatology: opportunities, challenges, and future directions SEMINARS IN CUTANEOUS MEDICINE AND SURGERY Schlessinger, D. I., Chhor, G., Gevaert, O., Swetter, S. M., Ko, J., Novoa, R. A. 2019; 38 (1): E31E37
Artificial intelligence and dermatology: opportunities, challenges, and future directions. Seminars in cutaneous medicine and surgery Schlessinger, D. I., Chhor, G., Gevaert, O., Swetter, S. M., Ko, J., Novoa, R. A. 2019; 38 (1): E3137

Abstract

The application of artificial intelligence (AI) to medicine has considerable potential within dermatology, where the majority of diagnoses are based on visual pattern recognition. Opportunities for AI in dermatology include the potential to automate repetitive tasks; optimize time-consuming tasks; extend limited medical resources; improve interobserver reliability issues; and expand the diagnostic toolbox of dermatologists. To achieve the full potential of AI, however, developers must aim to create algorithms representing diverse patient populations; ensure algorithm output is ultimately interpretable; validate algorithm performance prospectively; preserve human-patient interaction when necessary; and demonstrate validity in the eyes of regulatory bodies.

View details for PubMedID 31051021

Introduction, Dermatology, Data, and Informatics. Seminars in cutaneous medicine and surgery Novoa, R. A. 2019; 38 (1): E1E8

View details for PubMedID 31051016

Biomarker discovery analysis: Alterations in p14, p16, p53, and BAP1 expression in nevi, cutaneous melanoma, and metastatic melanoma. Pigment cell & melanoma research Sargen, M. R., Cloutier, J. M., Sarin, K. Y., Rieger, K. E., Chu, P., Swetter, S. M., Novoa, R. A. 2019

Abstract

Protein biomarkers for diagnosis and prognosis are currently lacking for melanoma, which predominantly relies on histologic features for diagnosis (cytologic and nuclear pleomorphism, growth pattern) and staging (Breslow depth, ulceration). In many cases, the histology of the primary tumor is an unreliable predictor of tumor behavior, and consequently sentinel lymph node biopsy along with imaging studies are often necessary to predict likelihood of mortality from disease. This article is protected by copyright. All rights reserved.

View details for PubMedID 30672662

Appropriate use criteria in dermatopathology: Initial recommendations from the American Society of Dermatopathology. Journal of the American Academy of Dermatology Task Force/Committee Members, Vidal, C. I., Armbrect, E. A., Andea, A. A., Bohlke, A. K., Comfere, N. I., Hughes, S. R., Kim, J., Kozel, J. A., Lee, J. B., Linos, K., Litzner, B. R., Missall, T. A., Novoa, R. A., Sundram, U., Swick, B. L., Hurley, M. Y., Rating Panel, Alam, M., Argenyi, Z., Duncan, L. M., Elston, D. M., Emanuel, P. O., Ferringer, T., Fung, M. A., Hosler, G. A., Lazar, A. J., Lowe, L., Plaza, J. A., Prieto, V. G., Robinson, J. K., Schaffer, A., Subtil, A., Wang, W. 2019; 80 (1): 189

Abstract

BACKGROUND: Appropriate use criteria (AUC) provide physicians guidance in test selection, and can affect health care delivery, reimbursement policy, and physician decision-making.OBJECTIVES: The American Society of Dermatopathology, with input from the American Academy of Dermatology and the College of American Pathologists, sought to develop AUC in dermatopathology.METHODS: The RAND/UCLA appropriateness methodology, which combines evidence-based medicine, clinical experience, and expert judgment, was used to develop AUC in dermatopathology.RESULTS: With the number of ratings predetermined at 3, AUC were developed for 211 clinical scenarios involving 12 ancillary studies. Consensus was reached for 188 (89%) clinical scenarios, with 93 (44%) considered "usually appropriate" and 52 (25%) "rarely appropriate" and 43 (20%) having "uncertain appropriateness."LIMITATIONS: The methodology requires a focus on appropriateness without comparison between tests and irrespective of cost.CONCLUSIONS: The ultimate decision to order specific tests rests with the physician and is one where the expected benefit exceeds the negative consequences. This publication outlines the recommendations of appropriateness-the AUC for 12 tests used in dermatopathology. Importantly, these recommendations may change considering new evidence. Results deemed "uncertain appropriateness" and where consensus was not reached may benefit from further research.

View details for PubMedID 29689323

Evidence behind the use of molecular tests in melanocytic lesions and practice patterns of these tests by dermatopathologists JOURNAL OF CUTANEOUS PATHOLOGY Emanuel, P. O., Andea, A. A., Vidal, C. I., Missall, T. A., Novoa, R. A., Bohlke, A. K., Hughes, S. R., Hurley, M. Y., Kim, J. 2018; 45 (11): 83946

Abstract

The gold standard for the diagnosis of melanocytic lesions is histologic examination. However, as histologic examination can have its limitations, there are many clinical scenarios in which additional testing may be appropriate in an attempt to render a definitive diagnosis.A literature review for three ancillary tests-comparative genomic hybridization (CGH)/single-nucleotide polymorphism (SNP) array, fluorescence in situ hybridization (FISH), and gene expression profiling by quantitative reverse transcription polymerase chain reaction (qRT-PCR)-was compiled and current use patterns were tabulated. Survey of the practice patterns of these tests by dermatopathologists was also accessed in the attendees of the American Society of Dermatopathology Annual Meeting (Chicago, 2016).Here we summarize the use of these molecular tests in melanocytic lesions. We found that 54.4% of the respondents surveyed utilize (or expect consultants to utilize) molecular testing of melanocytic lesions in their practice when appropriate.CGH/SNP arrays, FISH testing, and qRT-PCR applied to melanocytic lesions have allowed for more accurate classification. Just over half of those surveyed use molecular testing for melanocytic lesion with the majority sending their cases out for completion of the molecular test.

View details for PubMedID 30039879

Paraneoplastic granulomatous dermatitis in a patient with Hodgkin's disease: a diagnostic pitfall. BMJ case reports Tabata, M. M., Novoa, R. A., Martires, K. J. 2018; 2018

Abstract

The association of malignant lymphomas with non-necrotic epithelioid granulomas has been reported rarely since 1977. Hodgkin's disease-associated widespread cutaneous granuloma annulare (GA) has been reported in only eight patients. We report the second case of subcutaneous GA associated with Hodgkin's disease. A 73-year-old man with Epstein-Barr virus-associated Hodgkin's lymphoma and paraneoplastic subcutaneous GA, presented 3months after the diagnosis of malignancy. Examination revealed a large, broad erythematous, indurated, subcutaneous plaque spanning the majority of the left lower back and flank with no associated symptoms. Initial biopsy was suggestive of morphea. Prompted by positron emission tomography (PET) findings of increased fluorodeoxyglucose (FDG) uptake, a second, deeper biopsy was performed, revealing subcutaneous palisaded granulomatous dermatitis. After complete workup, the diagnosis most strongly suggested subcutaneous GA. This case highlights the importance of deep incisional biopsies, the fluorodeoxyglucose - positron emission tomography (FDG-PET) findings in GA and the rare association of GA with Hodgkin's disease which may signal the presence of malignancy.

View details for PubMedID 30100570

Appropriate use criteria in dermatopathology: Initial recommendations from the American Society of Dermatopathology JOURNAL OF CUTANEOUS PATHOLOGY Vidal, C. I., Armbrect, E. A., Andea, A. A., Bohlke, A. K., Comfere, N. I., Hughes, S. R., Kim, J., Kozel, J. A., Lee, J. B., Linos, K., Litzner, B. R., Missall, T. A., Novoa, R. A., Sundram, U., Swick, B. L., Hurley, M., Alam, M., Argenyi, Z., Duncan, L. M., Elston, D. M., Emanuel, P. O., Ferringer, T., Fung, M. A., Hosler, G. A., Lazar, A. J., Lowe, L., Plaza, J. A., Prieto, V. G., Robinson, J. K., Schaffer, A., Subtil, A., Wang, W., Task Force Comm, Rating Panel 2018; 45 (8): 56380

Abstract

Appropriate use criteria (AUC) provide physicians guidance in test selection, and can affect health care delivery, reimbursement policy and physician decision-making.The American Society of Dermatopathology, with input from the American Academy of Dermatology and the College of American Pathologists, sought to develop AUC in dermatopathology.The RAND/UCLA appropriateness methodology, which combines evidence-based medicine, clinical experience and expert judgment, was used to develop AUC in dermatopathology.With the number of ratings predetermined at 3, AUC were developed for 211 clinical scenarios involving 12 ancillary studies. Consensus was reached for 188 (89%) clinical scenarios, with 93 (44%) considered "usually appropriate," 52 (25%) "rarely appropriate" and 43 (20%) "uncertain appropriateness."The methodology requires a focus on appropriateness without comparison between tests and irrespective of cost.The ultimate decision of when to order specific test rests with the physician and is one where the expected benefit exceeds the negative consequences. This publication outlines the recommendations of appropriateness-AUC for 12 tests used in dermatopathology. Importantly, these recommendations may change considering new evidence. Results deemed "uncertain appropriateness" and where consensus was not reached may benefit from further research.

View details for PubMedID 29566273

Variability in the Expression of Immunohistochemical Markers: Implications for Biomarker Interpretation in Cutaneous T-Cell Lymphoma JOURNAL OF INVESTIGATIVE DERMATOLOGY Rahbar, Z., Li, S., Tavallaee, M., Novoa, R. A., Kim, J., Kim, Y. H. 2018; 138 (5): 12046

View details for PubMedID 29247659

Gain of CD26 expression on the malignant T-cells in relapsed erythrodermic leukemic mycosis fungoides. Journal of cutaneous pathology Cedeno-Laurent, F., Wysocka, M., Obstfeld, A. E., Novoa, R. A., Vittorio, C. C., Kim, E. J., Weng, W., Rook, A. H. 2017

Abstract

Loss of CD26 surface expression on the circulating malignant T-cell is the most widely accepted diagnostic marker in patients with leukemic cutaneous T-cell lymphoma (CTCL). CTCL cases with reemergence of CD7 and/or CD26 surface expression are unusual and of uncertain prognosis. We report the case of an erythrodermic leukemic mycosis fungoides patient who had achieved temporary remission after a several months on multimodality immunotherapy and extracorporeal photopheresis, but who relapsed with aggressive disease phenotypically characterized by CD4+ T-cells with high CD26 expression. Polymerase chain reaction (PCR) studies and high throughput sequencing analyses from peripheral blood mononuclear cells at presentation and relapse consistently showed an identical clonal T-cell receptor (TCR) suggesting evolution of her original malignant clone which lacked CD26 expression. Interestingly, quantitative expression of the sialomucin, CD164, mirrored her clinical picture, thus favoring its reliability as a novel biomarker in CTCL.

View details for DOI 10.1111/cup.12899

View details for PubMedID 28083948

Development of RET mutant cutaneous angiosarcoma during BRAF inhibitor therapy. Journal of cutaneous pathology Dai, J., Kunder, C. A., Chu, E. Y., Chan, E. F., Egan, C. L., Novoa, R. A. 2017

Abstract

Treatment with BRAF inhibitors may lead to paradoxical mitogen-activated protein kinase (MAPK) pathway activation and accelerated tumorigenesis in cells with preexisting oncogenic hits. This phenomenon manifests clinically in the development of squamous cell carcinomas (SCCs) and keratoacanthomas (KAs) in patients treated with BRAF inhibitors. Cases of extracutaneous malignancies associated with BRAF inhibitors have also been reported. We present a case of a patient who developed a cutaneous angiosarcoma 6 months after initiation of vemurafenib therapy. Next-generation sequencing (NGS) revealed a mutation in RET, which lies upstream of the MAPK pathway. This case highlights that treatment with BRAF inhibitors may promote the accelerated growth of secondary malignancies. Physician awareness of the spectrum of secondary malignancies associated with BRAF inhibitor treatment will support their early detection and treatment.

View details for PubMedID 28796396

Invasive Melanoma in a Patient with Congenital Ichthyosiform Erythroderma PEDIATRIC DERMATOLOGY Jaju, P., Novoa, R. A., Swetter, S. M., Sarin, K. Y. 2017; 34 (1): E35-E36

Abstract

We describe the case of a 26-year-old woman with a history of congenital ichthyosiform erythroderma (CIE) who initially presented with a stage IIA amelanotic melanoma on her forearm that was surgically excised. We also review the literature on CIE-associated skin cancers and discuss the possible contribution of ichthyosis to the risk of cutaneous malignancies. Our findings emphasize the importance of close lifelong skin cancer screening in individuals with CIE and highlight the unique malignancy risk of these individuals.

View details for DOI 10.1111/pde.13012

View details for Web of Science ID 000393955600008

Invasive Melanoma in a Patient with Congenital Ichthyosiform Erythroderma. Pediatric dermatology Jaju, P., Novoa, R. A., Swetter, S. M., Sarin, K. Y. 2016

Abstract

We describe the case of a 26-year-old woman with a history of congenital ichthyosiform erythroderma (CIE) who initially presented with a stage IIA amelanotic melanoma on her forearm that was surgically excised. We also review the literature on CIE-associated skin cancers and discuss the possible contribution of ichthyosis to the risk of cutaneous malignancies. Our findings emphasize the importance of close lifelong skin cancer screening in individuals with CIE and highlight the unique malignancy risk of these individuals.

View details for DOI 10.1111/pde.13012

View details for PubMedID 27813222

Low-Dose Radiotherapy for Primary Cutaneous Anaplastic Large-Cell Lymphoma While on Low-Dose Methotrexate CUTIS Cornejo, C. M., Novoa, R. A., Krisch, R. E., Kim, E. J. 2016; 98 (4): 253-256

Abstract

Primary cutaneous anaplastic large-cell lymphoma (pcALCL) is part of a spectrum of CD30+ primary cutaneous lymphoproliferative disorders (pcLPDs) that also includes lymphomatoid papulosis (LyP). Localized radiotherapy at doses of 34 to 44 Gy is first-line treatment of pcALCL, but the use of low-dose radiotherapy for pcALCL has not been reported. We present the case of a patient with a history of pcALCL/LyP who was treated with low-dose radiotherapy while on oral low-dose methotrexate (MTX) once weekly. This report suggests that low-dose radiotherapy can be an effective palliative treatment of pcALCL. Low-dose radiotherapy may offer certain advantages over traditional radiotherapy, such as a more economical and efficient treatment for patients, potentially fewer short-term and long-term side effects, and the potential for concomitant use with low-dose MTX.

View details for Web of Science ID 000388917900015

View details for PubMedID 27874877

Epidermotropic metastasis of primary lung adenocarcinoma. Journal of cutaneous pathology Scott, G. D., Kwong, B. Y., Novoa, R. A. 2016; 43 (9): 798-801

Abstract

Cutaneous metastasis of lung cancer is a rare event and usually portends a grim prognosis. Several cases of lung cancer with cutaneous metastasis have been reported, but these have been largely limited to the dermis. Here we describe a unique case of cutaneous metastatic lung adenocarcinoma largely limited to the epidermis, mimicking Paget's disease or a cutaneous adnexal tumor.

View details for DOI 10.1111/cup.12741

View details for PubMedID 27234927

Carpet beetle dermatitis: a possibly under-recognized entity INTERNATIONAL JOURNAL OF DERMATOLOGY MacArthur, K. M., Richardson, V., Novoa, R. A., Stewart, C. L., Rosenbach, M. 2016; 55 (5): 577-579

View details for DOI 10.1111/ijd.12952

View details for Web of Science ID 000374003900035

View details for PubMedID 26475226

Immunohistochemical analysis of lichenoid reactions in patients treated with anti-PD-L1 and anti-PD-1 therapy. Journal of cutaneous pathology Schaberg, K. B., Novoa, R. A., Wakelee, H. A., Kim, J., Cheung, C., Srinivas, S., Kwong, B. Y. 2016; 43 (4): 339-346

Abstract

Recent advances in the immunotherapeutic treatment of cancer have led to the development of multiple new directed therapies including monoclonal antibodies that block the immune checkpoint T-cell receptor programmed death 1 (PD-1) and the PD-1 ligand, programmed death ligand 1 (PD-L1). Various immune-related toxicities have been associated with these drugs including, most commonly, skin rashes.Five cases of lichenoid dermatitis, including one case of lichenoid mucositis and one case of lichen sclerosus, associated with anti-PD-L1 and anti-PD1 therapy were compared with three biopsies of non-drug-related lichen planus (LP) and three lichen planus-like keratoses (LPLK) used as controls.Histopathologic and immunophenotypic analysis of these lichenoid lesions demonstrated significantly greater histiocytic infiltrates than observed in control lichenoid reactions (p = 0.0134). We also observed increased spongiosis and epidermal necrosis. No significant differences were seen in expression of CD3, CD4:CD8, CD20, PD-1, CD25, Foxp3, CXCL13 and PD-L1 expression.These findings expand the literature of immune-related toxicities of PD-L1 and PD-1 blockade to include lichenoid dermatitis and lichenoid mucositis. Of note, these cutaneous side effects were amenable to topical treatment, without the need for medication dose reduction or discontinuation.

View details for DOI 10.1111/cup.12666

View details for PubMedID 26762844

Fistulizing Epstein-Barr virus-positive plasmablastic lymphoma in an HIV-positive man BRITISH JOURNAL OF DERMATOLOGY Rangel, J., Novoa, R., Morrison, C., Frank, D., Kovarik, C. 2016; 174 (2): 398-401

Abstract

Plasmablastic lymphoma (PBL) is an unusual subtype of non-Hodgkin lymphoma recently classified as a diffuse immunoblastic lymphoma with a plasma-cell immunophenotype. Originally described in the oral cavity of HIV-positive patients, it has also been recognized to occur rarely at other sites. We describe a previously unreported fistulizing presentation of Epstein-Barr virus (EBV)-positive PBL, reviewing its association with HIV-1 infection and its importance as an AIDS-defining malignancy.

View details for DOI 10.1111/bjd.14089

View details for Web of Science ID 000370014600029

View details for PubMedID 26286218

Erythematous Plaques on the Buttock JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION Tan, C. Z., Novoa, R., Chen, J. K. 2016; 315 (1): 79-80

View details for DOI 10.1001/jama.2015.13562

View details for PubMedID 26746461

Recurrent Subepidermal Blistering Dermatosis Heralding Disease Relapse in IgA Kappa Multiple Myeloma: Report of a Case and a Review of the Literature. Clinical lymphoma, myeloma & leukemia Leatham, H. W., Novoa, R., Liedtke, M., Kwong, B. Y. 2016; 16 (1): e1-5

View details for DOI 10.1016/j.clml.2015.11.007

View details for PubMedID 26708980

Acquired port-wine stain with superimposed eczema following penetrating abdominal trauma. Cutis Langenhan, J., Novoa, R. A., Pappas-Taffer, L. 2015; 96 (6): 391-394

Abstract

Port-wine stains (PWSs), or capillary malformations, are common congenital lesions, but acquired lesions rarely present in the setting of trauma. We present the case of an 18-year-old man who developed a PWS and associated localized eczema following penetrating trauma to the left abdomen. The diagnoses were confirmed on biopsy. The patient's eczema improved with topical steroids. Magnetic resonance imaging of PWSs is recommended in order to rule out deeper arteriovenous malformations. More research is needed to elucidate the connection between PWS pathophysiology and the development of eczema.

View details for PubMedID 26761933

Presentation of Acute Megakaryoblastic Leukemia Associated with a GATA-1 Mutation Mimicking the Eruption of Transient Myeloproliferative Disorder PEDIATRIC DERMATOLOGY Boos, M. D., Lee, L. W., Freedman, J. L., Novoa, R. A., Chu, E. Y., Perman, M. J. 2015; 32 (5): E204-E207

Abstract

Children with trisomy 21 are prone to developing hematologic disorders, including transient myeloproliferative disorder (TMD) and acute megakaryoblastic leukemia (AMKL). The papulovesicular eruption of TMD provides an important clue to the diagnosis. In contrast, AMKL rarely has associated cutaneous findings. We report the case of a 22-month-old child with trisomy 21 who presented with the acute onset of diffusely scattered and crusted papules, plaques, and vesicles. A thorough infectious evaluation was negative and the patient was unresponsive to empiric antibiotic and antiinflammatory therapies. Complete blood count (CBC) was notable for mild pancytopenia, with a normal peripheral smear. Two weeks later he was reassessed and found to have a population of blasts on repeat CBC. Subsequent evaluation ultimately led to a diagnosis of AMKL. This is the first reported case of a cutaneous eruption in a young child with Down syndrome and transformed AMKL. When children with trisomy 21 present with the acute onset of crusted papules and vesicles that cannot be accounted for by an infectious etiology, a diagnosis of AMKL should be considered even in the absence of a history of TMD.

View details for DOI 10.1111/pde.12643

View details for Web of Science ID 000361184000003

View details for PubMedID 26205501

Erythrodermic Leukemia Cutis in a Patient With Pre-B-Cell Acute Lymphoblastic Leukemia. American Journal of dermatopathology Novoa, R. A., Wanat, K. A., Rosenbach, M., Frey, N., Frank, D. M., Elenitsas, R. 2015; 37 (8): 650-652

Abstract

The clinical differential diagnosis of erythroderma is extensive and includes both benign and malignant causes. The authors present an exceptional case of erythroderma secondary to pre-B-cell lymphoblastic leukemia cutis, with diagnostic findings on biopsy.

View details for DOI 10.1097/DAD.0000000000000240

View details for PubMedID 25436918

Herlitz Junctional Epidermolysis Bullosa with a Novel Mutation in LAMB3 PEDIATRIC DERMATOLOGY Kittridge, A., Patel, R., Novoa, R., Tamburro, J. 2014; 31 (4): 530-532

Abstract

Herlitz junctional epidermolysis bullosa (H-JEB) is a rare, heritable mechanobullous disease that affects infants at birth and causes early death. This disease is primarily caused by compound heterozygous or homozygous mutations in one of three genes affecting the function of one of the three chains of the laminin-332 (formerly laminin-5) protein. Here we report a case of H-JEB with a novel heterozygous mutation in LAMB3,c.1597G>A (p.Ala533Thr). These findings attest to the molecular heterogeneity of JEB and emphasize the importance of genetic analysis to help make an accurate diagnosis, predict clinical prognosis, and identify phenotypic-genotypic relationships that may aid in prenatal diagnosis and genetic counseling for the future.

View details for DOI 10.1111/pde.12018

View details for Web of Science ID 000340598200037

View details for PubMedID 23278291

Hypertensive Emergency, Matlike Telangiectasias, and Calciphylaxis in POEMS Syndrome JAMA DERMATOLOGY Novoa, R. A., Honda, K. S., Campagnaro, E., Gerstenblith, M. R. 2014; 150 (6): 667-669
Cutaneous epithelioid melanocytic neurofibroma arising in a patient with neurofibromatosis-1 JOURNAL OF CUTANEOUS PATHOLOGY Novoa, R. A., Kovarik, C. L., Low, D. W., Argenyi, Z. 2014; 41 (5): 457-461

Abstract

Tumors expressing both melanocytic and neural features can pose a diagnostic challenge to the dermatopathologist and provoke questions regarding their lineage. We report a case of a tumor arising on the right cheek of a 9-year-old boy with neurofibromatosis type 1 (NF-1). This neoplasm featured nests of non-pigmented epithelioid cells arising within a neurofibroma. The entire tumor stained strongly with S100, whereas the epithelioid population stained with MART-1, HMB-45 and MiTF. The neoplasm shows only scattered Ki-67 positivity. This tumor represents a neurofibroma with portions that have undergone melanocytic differentiation (melanocytic neurofibroma). This exceedingly rare tumor represents a distinct entity from neurotized melanocytic nevi, combined melanocytic nevi or pigmented neurofibromas and provides further evidence that melanocytes arise indirectly from ventromedial neural crest-derived Schwann cell precursors.

View details for DOI 10.1111/cup.12297

View details for Web of Science ID 000337515700008

View details for PubMedID 24472086

Cutaneous Complications in Hematopoietic Cell Transplant Recipients: Impact of Biopsy on Patient Management BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION Paun, O., Phillips, T., Fu, P., Novoa, R. A., Honda, K. S., Lug, K. Q., Lazarus, H. M. 2013; 19 (8): 1204-1209

Abstract

The utility of cutaneous biopsies in directing the management of post-hematopoietic cell transplantation (HCT) eruptions remains uncertain. We retrospectively analyzed 439 consecutive HCT procedures for malignant hematologic disorders performed at our institution between January 2005 and December 2012; 192 patients underwent 430 cutaneous biopsies. The clinical and dermatopathologic diagnosis differed in 240 cases (56%). Biopsy results led to a change in therapy in 69 (16%) episodes. Seventeen of 69 management changes occurred in response to a clinical diagnosis of graft-versus-host disease and resulted in augmentation of systemic immunosuppression. The management was modified with similar frequencies with respect to concordance or discordance between the clinical and histopathologic diagnosis (P = .51). We used classification and regression tree (CART) analysis, a decision-modeling technique, to predict the biopsy yield as expressed by impact on clinical management in the allogeneic and autologous setting. The models were cross-validated and then tested against a validation subset, and they maintained a high negative predictive value and high specificity. Although skin biopsies may not be mandatory for either diagnostic or therapeutic reasons, in carefully chosen circumstances, this procedure can yield extremely important data. We believe a prospective study should be undertaken to evaluate current practice data and to validate our decision tree models.

View details for DOI 10.1016/j.bbmt.2013.05.006

View details for Web of Science ID 000322607000013

View details for PubMedID 23688396

Acneiform eruptions associated with vemurafenib JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY Petukhova, T. A., Novoa, R. A., Honda, K., Koon, H. B., Gerstenblith, M. R. 2013; 68 (3): E97-E99

View details for DOI 10.1016/j.jaad.2012.09.015

View details for Web of Science ID 000314823100006

View details for PubMedID 23394928

Vasculitis and panniculitis associated with vemurafenib JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY Novoa, R. A., Honda, K., Koon, H. B., Gerstenblith, M. R. 2012; 67 (6): E271-E272

View details for DOI 10.1016/j.jaad.2012.05.019

View details for Web of Science ID 000312131200013

View details for PubMedID 23158633

IL-17 and Regulatory Cytokines (IL-10 and IL-27) in L-braziliensis Infection PARASITE IMMUNOLOGY NOVOA, R., Bacellar, O., Nascimento, M., Cardoso, T. M., Ramasawmy, R., OLIVEIRA, W. N., Schriefer, A., Carvalho, E. M. 2011; 33 (2): 132-136

Abstract

Cutaneous leishmaniasis (CL) is characterized by high production of pro-inflammatory cytokines and development of pathology. Individuals with subclinical L.braziliensis infection (SC) have a positive skin test to leishmania, but do not develop disease. We evaluated whether the downregulation of inflammatory response in SC is mediated by IL-10 and IL-27 and whether IL-17 is associated with control of infection. Participants include SC individuals, patients with CL and healthy subjects. Cytokines protein and mRNA were detected by ELISA and real-time PCR. IFN- and TNF- levels were higher in CL than in SC group. The IL-10 levels and mRNA for IL-10 were similar in both SC and CL. mRNA for IL-27 was increased in cells from SC after stimulation with L.braziliensis antigen. There was a tendency for increased levels of IL-17 in SC compared to CL. The weak type 1 immune response observed in SC L.braziliensis infection is not because of the regulatory effects of IL-10 and IL-27. The control of Leishmania infection may be mediated by innate immune response with participation of IL-17. The results from this pilot study warrant further larger studies to investigate the potential contributions of IL-17 and IL-27 to the control of L.braziliensis infection.

View details for DOI 10.1111/j.1365-3024.2010.01256.x

View details for Web of Science ID 000286208100005

View details for PubMedID 21226726

Ecstasy use and its association with sexual behaviors among drug users in New York City JOURNAL OF COMMUNITY HEALTH Novoa, R. A., Ompad, D. C., Wu, Y. F., Vlahov, D., Galea, S. 2005; 30 (5): 331-343

Abstract

In the past two decades, recreational use of ecstasy has become a growing concern in the United States, although most studies assessing ecstasy use have focused on white, middle-class adolescents who use ecstasy during raves and in clubs. We assessed the prevalence of recent ecstasy use among predominantly minority heroin, cocaine, and crack users in New York City and the association between ecstasy and sexual risk above and beyond that of the other drugs. Between 2002 and 2004, injection and non-injection heroin, crack and cocaine users (N= 534) completed a risk behavior questionnaire that included items on ecstasy use. Logistic regression was used to investigate the relation between current ecstasy use and sexual behaviors. Of 534 illicit drug users, 69.7% were aged 25 years or older, 65.2% were Hispanic, 27.9% Black and 77.4% male; 36.7% were injectors. 17.2% of respondents reported recent (last six months) ecstasy use. In a multivariable logistic regression model, current ecstasy use was associated both with initiating sex before age 14 (adjusted odds ratio (AOR) = 1.51) and having two or more partners in the past two months (AOR = 1.86) after adjusting for age at study entry, current cocaine and marijuana use and being an injection drug user. This study suggests that ecstasy use may be more prevalent among urban drug users. Ecstasy use in urban settings, beyond clubs and raves, should continue to be monitored.

View details for DOI 10.1007/s10900-005-5515-0

View details for Web of Science ID 000231867700002

View details for PubMedID 16175956