Muir-Torre Syndrome.

A 64-year-old man was referred to our dermatology clinic with a diagnosis of Muir-Torre syndrome (MTS), he had a history of multiple sebaceous carcinomas and sebaceous adenomas removed over the years. The patient has also had visceral cancer and had undergone a colon resection 17 years before to treat colon cancer and was recently diagnosed with invasive high-grade urothelial carcinoma of the right ureter. In addition, the patient has an extensive family history of cancer; a pedigree was constructed to document this history (Figure 1). Of note is that the patient's mother and father were second cousins. The patient's father was diagnosed with lung cancer at age 57 and died of colon cancer at the age of 72. The patient's mother died of colon cancer at age 74. The patient has three siblings: a sister and two brothers. The sister died of bone cancer at age 42. One brother had a number of cancers including colon, kidney, and skin cancers and died at age 53. His other brother is alive and has a history of colon cancer, kidney cancer, and ureteral cancer. The patient has five children. He has a 40-year-old son who, at the age of 30, was diagnosed with testicular cancer. His daughters are 47, 44, 39, and 34, with no history of malignancy to date. The patient had three maternal aunts, all of whom succumbed to colon cancer, as well as two paternal uncles who died of lung cancer. The patient's maternal grandfather was a smoker and he also died of lung cancer.

Primary Open-Angle African American Glaucoma Genetics (POAAGG) Study: gender and risk of POAG in African Americans.

The purpose of this study was to investigate the association between gender and primary open-angle glaucoma (POAG) among African Americans and to assess demographic, systemic, and behavioral factors that may contribute to differences between genders. The Primary Open-Angle African American Glaucoma Genetics (POAAGG) study had a case-control design and included African Americans 35 years and older, recruited from the greater Philadelphia, Pennsylvania. Diagnosis of POAG was based on evidence of both glaucomatous optic nerve damage and characteristic visual field loss. Demographic and behavioral information, history of systemic diseases and anthropometric measurements were obtained at study enrollment. Gender differences in risk of POAG were examined using multivariate logistic regression. A total of 2,290 POAG cases and 2,538 controls were included in the study. The percentage of men among cases was higher than among controls (38.6% vs 30.3%, P<0.001). The subjects' mean age at enrollment was significantly higher for cases compared to controls (70.2±11.3 vs. 61.6±11.8 years, P<0.003). Cases had lower rates of diabetes (40% vs. 46%, P<0.001), higher rates of systemic hypertension (80% vs. 72%, P<0.001), and lower body mass index (BMI) (29.7±6.7 vs. 31.9±7.4, P<0.001) than controls. In the final multivariable model, male gender was significantly associated with POAG risk (OR, 1.64; 95% CI, 1.44-1.87; P<0.001), after adjusting for age, systemic hypertension, diabetes, and BMI. Within the POAAGG study, men were at higher risk of having POAG than women. Pending genetic results from this study will be used to better understand the underlying genetic variations that may account for these differences.

Carcinosarcoma of the hand.

Carcinosarcomas are rare malignant tumors derived of both epithelial and mesenchymal elements. Herein, we report an elderly man originally diagnosed with a squamous cell carcinoma of the hand. Upon excision, the tumor was found to be a more aggressive carcinosarcoma. Immunohistochemical stains revealed that the sarcoma component of the lesion was vimentin positive, whereas the primary carcinoma tumor cells were positive for p63 and CK903. Both components were negative for CD34 and D2-40. This tumor was found to have angiolymphatic invasion and eventually metastasized to the axillary lymph nodes and lungs.

Frontal fibrosing alopecia: efficacy of treatment modalities.

Frontal fibrosing alopecia (FFA) is a primary cicatricial alopecia characterized by loss of follicular stem cells, fibrosis, and a receding frontotemporal hairline, with frequent loss of eyebrows, and less commonly, body hair involvement. Diagnosis is clinical and the disease most often affects postmenopausal women. Treatment is difficult with the goal of disease stabilization rather than hair regrowth due to the scarring nature of FFA. To date, there are no randomized controlled trials evaluating efficacy of treatments. Therefore, much of our knowledge is based on small retrospective studies. In this review, we highlight the various and most current treatment options for FFA, including 5-α-reductase inhibitors, intralesional steroids, hydroxychloroquine, topical steroids, topical calcineurin inhibitors, systemic retinoids, pioglitazone, oral antibiotics, minoxidil, excimer laser, and hair transplantation. Currently, 5-α-reductase inhibitors, intralesional steroids, and hydroxychloroquine have the highest level of evidence for treating FFA, while the remaining therapies have variable results and require further data to draw definitive conclusions.

Acute Trauma Precipitating the Onset of Chest Wall Myxofibrosarcoma.

A previously healthy, 47-year-old male presented to his primary care physician with the complaint of a nontender, palpable breast mass discovered coincidentally 1 month after being scratched in the same location by his pet cat. Family history revealed his father was diagnosed with a soft tissue sarcoma of the thigh, 6 months following a traumatic injury in the same location. Cat scratch disease was considered; however, Bartonella Henselae antibody testing was negative. Imaging studies revealed a subpectoral mass without rib involvement. Subsequent core biopsy revealed malignant fibrous histiocytoma, myxoid type, also known as myxofibrosarcoma. The patient underwent complete surgical resection with no complications. Medical advice recommended adjuvant radiation therapy due to the high risk of recurrence; however, the patient refused this option. Twenty-five months later, the patient remains in remission and in overall good health. This case describes the development of a chest wall tumor, diagnosed as myxofibrosarcoma, following acute trauma to the area. The association between acute traumatic injury and the development of a soft tissue sarcoma, as described in this case, continues to be widely reported, suggesting the possibility for an underlying causal mechanism. Future studies are required to unravel the pathogenesis in order to advance the management of this disease.

Complementary and Alternative Medicine Therapies for Psoriasis: A Systematic Review.

Importance: Up to 51% of patients with psoriasis report the use of complementary and alternative medicine (CAM) in their treatment regimen, although it is unclear which CAM therapies are effective for treatment of psoriasis. Objective: This review compiles the evidence on the efficacy of the most studied CAM modalities for treatment of patients with plaque psoriasis and discusses those therapies with the most robust available evidence. Evidence Review: PubMed, Embase, and ClinicalTrials.gov searches (1950-2017) were used to identify all documented CAM psoriasis interventions in the literature. The criteria were further refined to focus on those treatments identified in the first step that had the highest level of evidence for plaque psoriasis with more than 1 randomized clinical trial supporting their use. This excluded therapies lacking randomized clinical trial (RCT) data or showing consistent inefficacy. Findings: Primary CAM therapy searches identified 457 articles, of which 107 articles were retrieved for closer examination. Of those articles, 54 were excluded because the CAM therapy did not have more than 1 RCT on the subject or showed consistent lack of efficacy. An additional 7 articles were found using references of the included studies, resulting in a total of 44 RCTs (17 double-blind, 13 single-blind, and 14 nonblind), 10 uncontrolled trials, 2 open-label nonrandomized controlled trials, 1 prospective controlled trial, and 3 meta-analyses. Compared with placebo, application of topical indigo naturalis, studied in 5 RCTs with 215 participants, showed significant improvements in the treatment of psoriasis. Treatment with curcumin, examined in 3 RCTs (with a total of 118 participants), 1 nonrandomized controlled study, and 1 uncontrolled study, conferred statistically and clinically significant improvements in psoriasis plaques. Fish oil treatment was evaluated in 20 studies (12 RCTs, 1 open-label nonrandomized controlled trial, and 7 uncontrolled studies); most of the RCTs showed no significant improvement in psoriasis, whereas most of the uncontrolled studies showed benefit when fish oil was used daily. Meditation and guided imagery therapies were studied in 3 single-blind RCTs (with a total of 112 patients) and showed modest efficacy in treatment of psoriasis. One meta-analysis of 13 RCTs examined the association of acupuncture with improvement in psoriasis and showed significant improvement with acupuncture compared with placebo. Conclusions and Relevance: The CAM therapies with the most robust evidence of efficacy for treatment of psoriasis are indigo naturalis, curcumin, dietary modification, fish oil, meditation, and acupuncture. This review will aid practitioners in advising patients seeking unconventional approaches for treatment of psoriasis.

Eyebrow and Eyelash Hair Transplantation: A Systematic Review.

The objective of this systematic review was to investigate the etiologies of hair loss of the eyebrow and eyelash that required hair transplantation, the optimal surgical technique, patient outcomes, and common complications. A total of 67 articles including 354 patients from 18 countries were included in this study. Most patients were women with an average age of 29 years. The most common etiology requiring hair transplantation was burns, occurring in 57.6 percent of cases. Both eyebrow and eyelash transplantation use follicular unit transplantation techniques most commonly; however, other techniques involving composite grafts and skin flaps continue to be utilized effectively with minimal complication rates. In summary, many techniques have been developed for use in eyebrow/eyelash transplantation and the selection of technique depends upon the dermatologic surgeon's preferences and the unique presentations of their patients.

Severe hypertriglyceridemia presenting as eruptive xanthomatosis.

Eruptive xanthomatosis is described as the sudden eruption of erythematous yellow papules in the presence of hypertriglyceridemia, often associated with serum triglyceride levels above 2000 mg/dl. Severe hypertriglyceridemia can be caused by primary genetic mutations, secondary chronic diseases, or a combination of both. Uncontrolled diabetes mellitus is a known risk factor. It is imperative for physicians to be aware of eruptive xanthomatosis as a warning sign for severe hypertriglyceridemia due to the underlying risk for the potentially fatal complication of acute pancreatitis. Herein, we discuss a case of a 52-year-old man with uncontrolled diabetes mellitus who presented with eruptive xanthomata and a triglyceride level of 7157 mg/dl, the highest recorded value in the absence of acute pancreatitis, with a remarkable response to drug therapy. A review of the literature is included to discuss the clinical relevance and appropriate treatment of this disease entity.

Alopecia Areata: Review of Epidemiology, Clinical Features, Pathogenesis, and New Treatment Options.

Alopecia areata (AA) is a complex autoimmune condition that causes nonscarring hair loss. It typically presents with sharply demarcated round patches of hair loss and may present at any age. In this article, we review the epidemiology, clinical features, pathogenesis, and new treatment options of AA, with a focus on the immunologic mechanism underlying the treatment. While traditional treatment options such as corticosteroids are moderately effective, a better understanding of the disease pathogenesis may lead to the development of new treatments that are more directed and effective against AA. Sources were gathered from PubMed, Embase, and the Cochrane database using the keywords: alopecia, alopecia areata, hair loss, trichoscopy, treatments, pathogenesis, and epidemiology.

Medical comorbidities in patients with lichen planopilaris, a retrospective case-control study.

BACKGROUND: Lichen planopilaris (LPP) is a rare inflammatory lymphocyte-mediated disease of the scalp considered to have an autoimmune pathogenesis. OBJECTIVES: To identify the prevalence of medical comorbidities in patients with classic LPP (CLPP) and frontal fibrosing alopecia (FFA). METHODS: The medical records of 206 LPP patients and 323 control patients were retrospectively reviewed for existing comorbidities. The control group consisted of 257 patients with androgenetic alopecia (ICD 9 = 704.0 or ICD 10 = L64.9) and 66 patients with actinic keratosis (ICD 9 = 702.0 or ICD 10 = L57.0). RESULTS: Systemic lupus erythematosus (SLE) was found in 4.37% of all patients with LPP (including CLPP and the FFA subtype) and in 0.31% of controls. Female patients with the FFA subtype were more likely to have SLE than controls (OR 31.034, 95% CI 2.405-400.382, P = 0.0085). LIMITATIONS: This study is limited in that it is a retrospective chart review. CONCLUSION: Female patients with FFA are significantly more likely to have SLE. Patients with LPP (including CLPP and the FFA subtype) are less likely to have diabetes. Patients with CLPP excluding FFA are less likely to have hypertension, heart disease, and hypothyroidism.

Family History in the Primary Open-Angle African American Glaucoma Genetics Study Cohort.

PURPOSE: To determine the relationship between positive family history (FH) and primary open-angle glaucoma (POAG) diagnosis and clinical presentation in the Primary Open-Angle African American Glaucoma Genetics (POAAGG) cohort. METHODS: FH of POAG in first-degree relatives was assessed in 2365 subjects in the POAAGG cohort. A standardized interview was used to assess FH of glaucoma, demographic characteristics, lifestyle choices, and medical and ocular comorbidities. RESULTS: Positive FH was associated with increased risk of POAG (age-adjusted odds ratio and 95% confidence interval 3.4 [2.8, 4.1]). In age-adjusted analysis among POAG cases, positive FH was associated with younger age (P < .001), female sex (P < .001), hypertension (P = .006), use of hypertension medication (P = .03), and prior glaucoma surgery (P = .02). Cases with positive FH also had thicker retinal nerve fiber layers (P = .03). CONCLUSIONS: The risk conferred by positive FH suggests strong genetic underpinnings for some patients with this disease, which will be investigated by genome-wide association studies and whole exome sequencing. NOTE: Publication of this article is sponsored by the American Ophthalmological Society.

Laser treatment of primary axillary hyperhidrosis: a review of the literature.

Hyperhidrosis o`ccurs when the body produces sweat beyond what is essential to maintain thermal homeostasis. The condition tends to occur in areas marked by high-eccrine density such as the axillae, palms, and soles and less commonly in the craniofacial area. The current standard of care is topical aluminum chloride hexahydrate antiperspirant (10-20%), but other treatments such as anticholinergics, clonidine, propranolol, antiadrenergics, injections with attenuated botulinum toxin, microwave technology, and surgery have been therapeutically implicated as well. Yet, many of these treatments have limited efficacy, systemic side effects, and may be linked with significant surgical morbidity, creating need for the development of new and effective therapies for controlling excessive sweating. In this literature review, we examined the use of lasers, particularly the Neodynium:Yttrium-Aluminum-Garnet (Nd:YAG) and diode lasers, in treating hyperhidrosis. Due to its demonstrated effectiveness and limited side effect profile, our review suggests that Nd:YAG laser may be a promising treatment modality for hyperhidrosis. Nevertheless, additional large, randomized controlled trials are necessary to confirm the safety and efficacy of this treatment option.

Eccrine-Centric Melanocytic Nevus.

Benign melanocytic neoplasms present with a diverse array of well-known histopathologic patterns. It is imperative to recognize the benign patterns to render accurate diagnoses. We describe here an interesting and hitherto not described low-power architectural pattern of a benign melanocytic lesion: eccrine-centric melanocytic nevus. The patient was a 50-year-old African American woman who noticed a new mole on her foot that began as a dark speck but quickly grew larger. The lesion was excised to exclude the possibility of melanoma. Upon review of the specimen, the lesion was noted to demonstrate a distinctive pattern consistent with a melanocytic nevus of possible congenital onset. Remarkably, the ducts of eccrine glands were increased in density and the nests of melanocytes were found solely in a peri-eccrine distribution without melanocytes in any other locations (ie, interstitial, perifollicular). Additionally, all melanocytes in the nevus were rather heavily pigmented. Although this pattern demonstrated no atypical features that would cause one to consider it malignant to the trained eye, this presentation could implicate a metastatic disease (well-delineated nests in the dermis without concomitant interstitial component) and it is important to recognize.

Inflammatory fibroid polyp of the gastric antrum presenting as hypovolemic shock: Case report and literature review.

Inflammatory fibroid polyps (IFP) are an extremely rare entity that arise within the submucosa of the gastrointestinal tract, and represent less than 0.1% of all gastric polyps. They are most commonly localized to the gastric antrum, small intestines and recto-sigmoid colon. IFPs are most commonly found incidentally upon endoscopic evaluation in the absence of symptoms. Presenting symptoms depend on the location of the tumor, although polyps located in the stomach most commonly present with epigastric pain and early satiety. Classic histologic features include perivascular onion skinning of spindle cells with an abundance of eosinophilic infiltration. The prompt diagnosis and management of IFP is essential due to its underlying risk for intussusception, outlet obstruction and acute hemorrhage. In addition, recent evidence has shown that IFP is driven by an activating mutation in the platelet derived growth factor receptor alpha (PDGFRA) gene, suggesting a neoplastic etiology. Herein, we discuss a case of a 65-year-old woman with an inflammatory fibroid polyp of the gastric antrum who initially presented with early hypovolemic shock and melena. Diagnosis was made by endoscopic visualization, biopsy and immunohistochemical analysis.

Erosive pustular dermatosis of the scalp after aplasia cutis congenita in a 9-year-old patient: A 5-year follow-up.

Erosive pustular dermatosis of the scalp (EPDS) is a rare inflammatory skin disease that occurs mainly in elderly adults with a history of trauma to the scalp, but a few cases of EPDS in children have been reported. We report a rare case of EPDS after aplasia cutis congenita in a child.

Metastatic neuroendocrine tumor of the esophagus with features of medullary thyroid carcinoma.

A 41-year-old female presented with a pedunculated mass in the upper esophagus and bilateral lymphadenopathy. Biopsies suggested a neuroendocrine tumor, possibly carcinoid, and ensuing imaging revealed cervical lymph node metastases. The esophageal mass was removed endoscopically and discovered by pathologists to closely resemble medullary thyroid carcinoma (MTC) on immunohistochemistry staining. Following surgery, further work up demonstrated very high serum calcitonin levels, suggestive of medullary thyroid carcinoma, however the thyroid gland was normal on ultrasound. The patient underwent a neck dissection to remove the lymph node metastases and subsequently her calcitonin levels dropped to 0 ng/mL, indicating remission. It appears that the primary tumor was not in the thyroid, but in the cervical esophagus. The thyroid has appeared normal on multiple ultrasounds without any detectable nodules or masses. This is quite a unique case because this patient presented with a tumor resembling medullary carcinoma of the thyroid that presented as a pedunculated mass in the cervical esophagus. The actual final diagnosis of this mass in the cervical esophagus was neuroendocrine tumor (NET), consistent with a carcinoid tumor, not ectopic MTC. This case report highlights that calcitonin-secreting tumors outside the thyroid should not lead to erroneous recommendations for thyroidectomy.

Feasibility study in teledermatopathology: An examination of the histopathologic features of mycosis fungoides and spongiotic dermatitis.

BACKGROUND: Digital pathology offers numerous advantages, allowing remote information sharing using whole slide imaging (WSI) to digitize an entire glass slide (GS) at high resolution, creating a digital slide (DS). METHODS: In this study, we examine the concordance in diagnoses made on 40 digital slides (DSs) vs traditional GSs in differentiating between spongiotic dermatitis (SD) and patch/plaque-stage mycosis fungoides (MF). RESULTS: Greater interobserver concordance rate in final diagnosis of SD vs MF was observed with the utilization of DS (86.7%) compared with the utilization of GS (80%). Intraobserver concordance rate between the diagnoses rendered by a particular dermatopathologist on GS and DS was 86.7%. For all histopathological criteria, a correlation in the magnitudes of interobserver vs intraobserver discordances suggests that discordance between glass vs digital evaluation of these criteria may be largely expected subjective read variation independent of the media. Discordance in identification of histopathological features did not have a statistically significant link to discordance in diagnosis for 7 out of the 8 features. CONCLUSIONS: The similarity between interobserver and intraobserver discordances suggests that WSI does not introduce additional barriers or variability to accurately identify histopathologic feature and to discriminate between MF and SD beyond interobserver variability.