Christina Lam

Extramammary Paget’s Disease: Summary of Current Knowledge

Extramammary Pagets disease (EMPD) is a rare cutaneous malignancy accounting for approximately 1% of vulvar cancers. The rarity of this disease has caused difficulties in its characterization. Controversies exist in the literature regarding many aspects of this condition including the prevalence of concurrent vulvar adenocarcinoma or invasive EMPD, association with regional and distant cancers, and recurrence rates following surgical excision. This extensive review takes a closer look at what is known about EMPD and the conclusions that have been drawn from this information. This article also provides a practical approach to patients with EMPD.

Dermatomyositis Induced by Anti–Tumor Necrosis Factor in a Patient With Juvenile Idiopathic Arthritis

IMPORTANCE Biologic therapies, including anti-tumor necrosis factor (TNF) agents, are increasingly used to treat a variety of autoimmune diseases. Paradoxically, these agents have been reported to induce some of the very diseases they were designed to treat, including dermatomyositis (DM). We describe the first case of anti-TNF-associated DM without muscle involvement presenting in an adult patient with a history of arthritis since childhood. This cutaneous eruption recurred after rechallenge with an alternate anti-TNF agent. OBSERVATIONS A 46-year-old man with juvenile idiopathic arthritis developed a pruritic cutaneous eruption while receiving etanercept. Given concern about a drug-induced eruption, etanercept therapy was discontinued and the cutaneous findings improved. However, after rechallenge with adalimumab, he developed similar findings consistent with the skin manifestations of DM. After discontinuation of all anti-TNF drug therapy and the addition of methotrexate sodium, his eruption improved. CONCLUSIONS AND RELEVANCE Because the use of these agents is increasing, practitioners should be aware of the possibility of anti-TNF-induced autoimmune disorders, including DM. The case described herein is unique in that anti-TNF-induced autoimmune disease occurred in a patient with existing arthritis since childhood and recurred with rechallenge, adding further evidence to support the existence of anti-TNF-induced DM.

Targetoid hemosiderotic hemangiomas (hobnail hemangiomas) are vascular lymphatic malformations: A study of 12 pediatric cases

BACKGROUND Targetoid hemosiderotic hemangioma (THH), also called hobnail hemangioma, is a benign vascular lesion and thought to be of lymphatic origin. OBJECTIVE We sought to perform a clinicopathologic analysis of cases diagnosed as THH in a tertiary care childrens hospital. METHODS Clinical and histopathologic data were obtained from a chart review of 12 confirmed pediatric cases of THH. To determine the presence or absence of lymphatic vessels in lesional biopsy specimens, we evaluated the expression of the lymphatic endothelial cell marker podoplanin using the D2-40 antibody. Wilms tumor-1 gene immunostaining and Ki-67 proliferation index were also performed to evaluate the proliferative nature of these lesions. RESULTS Three children had a lesion since birth and 4 had a history of trauma before appearance of the THH. D2-40 immunostaining was positive in every case. Wilms tumor-1 gene immunostaining was negative in 9 cases, focally positive in two cases, and not performed in one case. The Ki-67 proliferation index was very low in all cases studied. LIMITATIONS The small number of cases and restriction to a pediatric population were limitations. CONCLUSION Our findings suggest that THH should be classified as a lymphatic vascular malformation.

Extramammary Paget disease: epidemiology and association to cancer in a Quebec-based population.

Objective This study aimed to further characterize the epidemiology, clinical manifestations, pathology, immunopathology, outcome from therapy, and associated underlying malignancy in extramammary Paget disease (EMPD). Materials and Methods We conducted a retrospective review of patients treated for EMPD in our tertiary care center during a 23-year period ranging from 1985 to 2008. Results Sixty-four cases of EMPD were diagnosed during this period. Mean age at diagnosis was 66.8 years. Of the patients, 79.7% were female. Tumors were mostly localized on the vulvoperineal region. Associated cancers were found in 30% of the patients and included breast cancer and urogenital cancers. Of the patients, 42% had a least 1 recurrence. The risk of recurrence could only be associated to tumor location on the vulvoperineal region. The limitations of this study include its retrospective nature and sample size. Conclusions Extramammary Paget disease is more commonly found on the vulva of older women and frequently recurs. Recurrence was not associated to margin status, which would support a more conservative therapeutic approach.

Management of cutaneous dermatomyositis.

Dermatomyositis (DM) is traditionally classified as an idiopathic inflammatory myopathy distinguished by muscle weakness and characteristic cutaneous findings. Patients presenting with the skin manifestations in the absence of clinical evidence of muscle weakness are categorized as clinically amyopathic DM. The symptoms associated with the cutaneous findings can be particularly debilitating, and a discordant response to therapy exists between muscle and skin disease. Various therapeutic agents and treatment approaches have been described, both for the cutaneous and extracutaneous manifestations; however, a paucity of controlled studies in this disease leads to limitations in interpreting the available data. In this review, emphasis is placed specifically on summarizing the current literature regarding management of cutaneous DM. In addition, an algorithmic approach to treatment of skin disease is presented.

Validation and Comparison of Psoriasis Case-Finding Algorithms Using International Classification of Diseases Nosology:

Background The methodology of utilizing ICD nosology to identify psoriasis case cohorts within an EMR database has not been validated extensively. Objective To appraise the validity of the psoriasis case definition utilizing ICD-9 nosology and to compare performances of six distinct algorithms. Design Retrospective chart review of a randomly selected subset (n=966) of 2,737 cases with ≥1 ICD-9 diagnosis code for psoriasis in 2004–2013. Results Positive Predictive Values for the six algorithms ranged from 84.7% {Any Provider (AP) ≥ 1} to 97.7% {Dermatologist (Derm) ≥ 3}. Negative Predictive Values for the six algorithms evaluated ranged from 24.1% (‘Derm ≥ 3’) to 80.9% (‘Derm≥1’). NPV for ‘Derm≥1’ was 80.9%, while NPV for all other algorithms was ≤ 35.1%. Percent misclassification for the six algorithms ranged from 11.0% (‘Derm≥ 1’) to 46.3% (‘Derm≥ 3’). Increased frequency of code applied also resulted in corresponding significant increases in percent misclassification. Within class, percent misclassification for ‘Derm ≥ 1’ (11.0%) was significantly lower than for ‘AP≥ 1’ (15.3%, P<0.01). Conclusions At least one ICD-9 code applied by a dermatologist represents the strongest performing algorithm to identify psoriasis cases.

Development and Pilot Testing of the Cutaneous Lupus Screening Tool

IMPORTANCE Patients with cutaneous lupus erythematosus (CLE) experience significant morbidity and poor quality of life. In the absence of a dermatologists examination, no reliable tool exists to confirm whether a patient has CLE for use in epidemiologic studies. OBJECTIVE To determine whether the Cutaneous Lupus Screening (CLUSE) tool can detect cases of CLE by measuring its performance in individuals with dermatologist-diagnosed CLE compared with individuals without CLE. DESIGN, SETTING, AND PARTICIPANTS The CLUSE tool is a novel, self-administered questionnaire with 15 closed-ended questions derived from the Delphi method. It includes features of disease validation for CLE as well as its most common phenotypes. This pilot study was administered during a 1-year period (July 1, 2011, to June 30, 2012) in outpatient dermatology clinics at an academic medical center. Data analysis was performed July 1, 2012, to November 30, 2013. Participants were individuals 18 years or older who had a definitive diagnosis of CLE or any other non-CLE dermatologic condition as established by a board-certified dermatologist. Eligible patients were recruited consecutively, and no individual approached declined to participate. MAIN OUTCOMES AND MEASURES Sensitivity and specificity of the individual questions from the CLUSE tool in predicting CLE, comparisons between summary scores for the dichotomous questions between the CLE cases and non-CLE controls, and 9 scoring algorithms that assign a diagnosis of CLE and its subtypes depending on an individuals response to each question. RESULTS A total of 133 patients were given the CLUSE tool; 16 participants were excluded. Responses from 117 individuals were collected for analysis and included 24 CLE cases and 93 non-CLE cases. In the 117 questionnaires analyzed, mean (SD) and median (interquartile range) CLUSE scores differed in the CLE (5.6 [2.1] and 5.5 [3-10], respectively) vs non-CLE (0.96 [1.6] and 0 [0-7], respectively) groups (all P < .001). Of the 9 algorithms, algorithm 9, used for diagnosing CLE regardless of subtype, demonstrated the highest sensitivity (87.5%) and high specificity (96.8%). CONCLUSIONS AND RELEVANCE A combination of questions and representative photographs can ascertain cases of CLE with high sensitivity and specificity. The CLUSE tool is a brief, self-administered questionnaire with low respondent burden used for the identification of CLE. In the future, this questionnaire will be administered to large, established patient databases to gather epidemiologic data on this disease.

Images in clinical medicine. Epidermolysis bullosa acquisita.

n engl j med 368;13 nejm.org march 28, 2013 e17 A 50-year-old man presented with tense noninflammatory bullae and erosions on trauma-prone areas of skin (Panels A and B) and the mucosae (Panels C and D). There was also atrophic scarring, milia formation, onychodystrophy, and anonychia. His medical history was remarkable for systemic lupus erythematosus (SLE), lupus nephritis, and hypertension. Examination of a skinbiopsy specimen revealed a cell-poor subepidermal vesicle. Direct immunofluorescence analysis revealed linear deposition of IgG at the dermal–epidermal junction (see the Supplementary Appendix). Studies of salt-split skin, which are used to examine the cutaneous basement-membrane zone for specific autoantibodies, supported the clinical suspicion of epidermolysis bullosa acquisita, an acquired subepidermal blistering disorder with autoantibodies against type VII collagen. This patient presented with the mechanobullous phenotype of epidermolysis bullosa acquisita, characterized by noninflammatory bullae that develop on trauma-prone acral skin and that heal with dyspigmentation, scarring, and milia formation. This autoimmune blistering disorder may mimic porphyria cutanea tarda, is often resistant to treatment, and may be associated with SLE. Treatment with systemic glucocorticoids, mycophenolate mofetil, and rituximab had limited benefit in this patient. Although he had a brief response to treatment with intravenous immune globulins, the administration of cyclophosphamide was started for maintenance of remission. The use of cyclophosphamide has resulted in the decreased formation of new blisters; however, disease activity has persisted.

Linearized solar elastosis of the legs: A novel presentation and review of the literature

There exists a spectrum of solar elastotic variants based on the clinical and histopathologic findings. We present here a peculiar case of solar elastosis that is unusual in its anatomic location, relative lack of background actinic damage, and pattern of linearization. Its presentation suggests that other factors in addition to ultraviolet radiation may play a role in the pathogenesis of solar elastosis.

Benign and malignant hybrid adnexal tumors in a patient with epidermodysplasia verruciformis

Epidermodysplasia verruciformis (EV) is a genodermatosis characterized by overgrowth of flat warts, pityriasis versicolor‐like lesions and an increased propensity for developing cutaneous squamous cell carcinomas due to abnormal susceptibility to infection with beta‐human papilloma viruses. Adnexal tumors are not typically associated with EV. Here we report a spectrum of hybrid adnexal tumors with divergent eccrine and folliculosebaceous differentiation, and cytologic features ranging from benign to frankly atypical, in a patient with inherited EV.