A case of VEXAS syndrome associated with EBV-associated hemophagocytic lymphohistiocytosis.

Vacuoles, E1, X-linked, autoimmunity, somatic (VEXAS) syndrome is characterized by a pathogenic mutation in UBA1, which leads to protean complications including autoimmunity and myelodysplasia. A 56-year-old man with steroid-dependent, later steroid-refractory cutaneous polyarteritis nodosa and Sweet syndrome developed recurrent daily fever, macrocytic anemia, thrombocytopenia, acute hypoxic respiratory failure, and anasarca. He was eventually diagnosed with Epstein-Barr virus (EBV) viremia and hemophagocytic lymphohistiocytosis (HLH). He improved clinically with rituximab, ruxolitinib, and increased glucocorticoids before expiring from Pseudomonas sepsis. UBA1 exon 3 mutational analysis in myeloid enriched peripheral blood revealed a c.122T>C (p.Met41Thr) pathogenic variant, consistent with VEXAS syndrome. We describe the first case of EBV-associated HLH in a patient diagnosed with VEXAS syndrome. Early identification of this syndrome will be important in order to offer potential therapies before life-threatening complications arise.

Defining the Need for Dermatologic Surgery Global Health in an Afro-Caribbean Country.

BACKGROUND: Dermatologic surgery services are largely absent in Africa and in Afro-Caribbean counties. In the USA, studies of people of African ancestry have demonstrated health care gaps, but there are no data for Africa nor a Afro-Caribbean country. Dermatology surgery has been largely absent from global health because there are few data to demonstrate the need. We sought to determine skin cancer tumor types, and local knowledge and perception in an Afro-Caribbean country. OBJECTIVE: We sought to determine whether there exist knowledge gaps and whether a dermatology surgery medical missions program would improve the health of Afro-Caribbean people. METHODS: First, we conducted a survey of knowledge and behaviors related to skin cancer. Second, we analyzed the number and types of tumors treated during a multi-year surgical dermatology project. RESULTS: In the survey, 62% did not know what melanoma was. Eighty-one percent did not think skin cancer is preventable. Of 163 surgical specimens, 64 were malignancies with 91% related to UV exposure. CONCLUSION: There is a need for a skin cancer treatment and education program in a country of mostly African-ancestry people.

Hand-foot skin reaction with primarily dorsal involvement in a patient with metastatic renal cell carcinoma on cabozantinib.

A 61-year-old man with metastatic renal cell carcinoma on cabozantinib developed hand-foot skin reaction with predominantly dorsal involvement including painful violaceous plaques over the joints and keratotic yellow plaques on the palmar fingers. The medication was discontinued with resolution of the plaques and later reinitiated at a lower dose uneventfully.

Nodular cutaneous amyloidoma of the extremity secondary to chronic granulomatous inflammation in setting of sarcoidosis.

Soft tissue amyloidoma is a rare condition that presents primarily in the abdomen and/or mediastinum and more uncommonly on the extremities. Soft tissue amyloidomas on the extremities have been associated with chronic inflammation, particularly when accompanied by AA-type amyloid deposition as seen in local trauma, surgery, hypertension and diabetes. To our knowledge, this is the first reported case of nodular cutaneous amyloidoma in the setting of systemic and cutaneous sarcoidosis. A 65-year-old woman presented with an asymptomatic subcutaneous nodule above her left lateral malleolus. Histopathology of the lesion showed an inconspicuous epidermis with amorphous eosinophilic material deposited in masses within the entire dermis. Congo red and crystal violet stains were positive. Based on the clinical and pathologic findings she was diagnosed with nodular cutaneous amyloidoma. We hypothesize that this process developed secondary to the chronic granulomatous inflammation of sarcoidosis.

Applying the community health worker model in dermatology: a curriculum for skin cancer prevention education training.

BACKGROUND: Incidence of skin cancer is rising in Hispanic populations and minorities often have more advanced disease and experience higher mortality rates. Community health worker (CHW) programs to promote primary and secondary prevention show promise for many diseases, but an adequate training program in skin cancer prevention is not documented. We present a model for CHW specialty certification in skin cancer prevention for underserved, Hispanic communities. METHODS: We designed a culturally appropriate CHW training program according to an empowerment model of education for skin cancer prevention and detection in underserved Hispanic communities. We partnered with a large nonprofit clinic in South Florida. RESULTS: Nineteen CHWs completed the 2-h training course. After the course, 82.4% (n = 14) strongly agreed with the statement "I feel confident I can educate others on the warning signs of melanoma." Eighty-eight percent (88.2%, n = 15) strongly agreed that they felt confident that they could educate others on the importance of sun safety. One hundred percent (n = 19) answered each question about how the sun affects the skin correctly while 84.2% (n = 16) were able to identify the "ABCDEs" of melanoma. Nearly 90% strongly agreed with "I plan to change my personal sun safety behaviors based on what I learned today". DISCUSSION: Our results indicate successful transfer of information and empowerment to CHWs with high levels of confidence. Disease specific "specialty certifications" are a component of effective CHW policies. An appropriate training tool for skin cancer education is an important addition to a growing list of CHW specialty certifications.

Trachyonychia and Twenty-Nail Dystrophy: A Comprehensive Review and Discussion of Diagnostic Accuracy.

BACKGROUND/AIMS: The term trachyonychia, also known as twenty-nail dystrophy, is used to describe thin, brittle nails with excessive longitudinal ridging. The term twenty-nail dystrophy has been incorrectly applied to other conditions that can affect all twenty nails. Therefore, we have conducted a comprehensive review of the clinical features of trachyonychia and have included a discussion regarding the diagnostic accuracy of this condition in the literature. METHODS: In November and December 2015, we conducted a thorough literature search using the following search terms: 'trachyonychia', 'twenty nail dystrophy', and 'sandpaper nails'. Articles that reported the epidemiology, disease associations, clinical presentation, histopathology, and treatment options for trachyonychia were included. Particular attention was given to case reports to identify misdiagnosed cases of twenty-nail dystrophy. RESULTS: Our preliminary search yielded 184 results with 72 unique articles ultimately selected for review. Excluded articles included 27 articles in languages other than English, 18 commentaries or reviews, and 67 irrelevant articles. Twelve additional articles described nail abnormalities clinically different from trachyonychia. CONCLUSION: Many other conditions can cause widespread nail dystrophy. The specific characteristics of trachyonychia need to be considered to make the diagnosis of twenty-nail dystrophy.

Defining the Need for Skin Cancer Prevention Education in Uninsured, Minority, and Immigrant Communities.

Importance: As the minority population increases in the United States, the incidence of skin cancer has important public health consequences, including poor skin cancer outcomes, in part because of late-stage diagnosis. Therefore, it is important to identify obstacles in skin cancer prevention in these communities. Objective: To characterize skin cancer prevention and education needs in uninsured, minority, and immigrant communities in South Florida. Design, Setting, and Participants: At a large free medical clinic in Florida, a convenience sample of people completed a 23-question survey in English, Spanish, or Haitian Creole assessing their skin cancer risk perception, knowledge, sun protective behaviors and barriers, and desirable outreach methods. All participants were uninsured and living at least 200% below the federal poverty level. Participants were adults recruited from the general waiting room who understood 1 of the 3 languages and were not present for a scheduled dermatology visit. Main Outcomes and Measures: The survey used Likert-type scales, true or false, and yes or no questions. Data were analyzed with SPSS IBM statistical software (version 22) using 1-way analysis of variance, χ2 tests, and Pearson correlations. Results: Among the 219 people invited, 206 participants (mean [SD] age, 43 [13.2] years) completed the survey; 75% of respondents were women who usually worked indoors. Almost a quarter (49 [24.5%) had never heard of skin cancer or melanoma. Nearly half (89 [44.3%]) had never conducted a self-skin examination. One in 5 (41 [20.7%]) believed that people with dark skin cannot get skin cancer. Three quarters (156 [75.7%]) of respondents fell into the "low/inconsistent" sun protective behavior category. Barriers to sun-protective behaviors were "using sun protection is too hot" (75 participants [39.3%]) and "I forget." (72 [37.7%]). More than 85% (175 [87.9%]) wanted to learn more about how to prevent skin cancer. Watching a video (37.3%) and text messaging (30.8%) were identified as the most popular outreach methods. Conclusions and Relevance: Important barriers to skin cancer prevention were lack of knowledge, the belief that dark skin was protective, and using sun protection made them feel too hot. Skin cancer education and intervention efforts in uninsured, minority, immigrant populations may be provided by videos and text messaging.

Hedgehog Pathway Inhibitor Therapy for Locally Advanced and Metastatic Basal Cell Carcinoma: A Systematic Review and Pooled Analysis of Interventional Studies.

IMPORTANCE: Hedgehog pathway inhibitors (HPIs) were made available by US Food and Drug Administration approval in 2012 for vismodegib and 2015 for sonidegib. Both target the Smoothened molecule and are indicated for locally advanced basal cell carcinoma (laBCC) and metastatic basal cell carcinoma (mBCC). OBJECTIVE: To evaluate clinical experience with HPIs, including efficacy and adverse effects. DATA SOURCES: We conducted a systematic review in concordance with the PRISMA guidelines of PubMed, the Cochrane Central Register of Controlled Trials, ClinicalTrials.gov, and EMBASE, using search terms "vismodegib," "sonidegib," "Erivedge," "Odomza," "basal cell carcinoma," and "BCC." STUDY SELECTION: We included clinical trials, retrospective medical record reviews, and prospective case series that used HPIs for the treatment of laBCC or mBCC in human subjects. Individual case reports and limited, retrospective case series were excluded from our review. DATA EXTRACTION AND SYNTHESIS: Data were extracted independently by 2 reviewers on a predesigned, standardized form. MAIN OUTCOMES AND MEASURES: The following data were recorded: number of patients with laBCC or mBCC, dose and frequency of drug administration, median duration of treatment, clearance and recurrence rates, and adverse effects. RESULTS: Eleven vismodegib articles (published between 2009 and 2015) met criteria for inclusion, and 8 articles were able to be pooled for analysis. The 8 pooled articles included 744 total patients with 704 patients clinically evaluable. Sonidegib did not yield enough publications for a formal analysis. Objective response to vismodegib for laBCC had a weighted average of 64.7% (95% CI, 63.7%-65.6%); complete response averaged 31.1% (95% CI, 30.4%-31.8%). Objective response for mBCC was 33.6% (95% CI, 33.1%-34.2%); complete response averaged 3.9% (95% CI, 3.3%-4.4%). Median duration of therapy was 35.8 weeks (95% CI, 35.1-36.5 weeks). CONCLUSIONS AND RELEVANCE: In a systematic review of HPIs for laBCC and mBCC, vismodegib, but not sonidegib, had enough studies to warrant a pooled analysis. Vismodegib was identified to have a significant, consistent effect on the median duration of therapy of laBCC and mBCC. While mBCC responses are superior to any traditional approach, the response rate for laBCC might be considered in the context of other standard treatment options including surgery and radiation therapy.