Ex vivo dermoscopy for biobank-oriented sampling of melanoma.

IMPORTANCE: In the era of targeted therapy for cancer, translational research identifying molecular targets in melanoma offers novel opportunities for potential new treatments. OBJECTIVES: To describe a method for sampling fresh tissue from primary melanoma and to test whether the area of maximal thickness can be identified with dermoscopy to ensure it remains available for routine histopathological diagnosis. DESIGN, SETTING, AND PARTICIPANTS: Tumors clinically suspicious for melanoma with diameter exceeding 5 mm were included. Dermoscopy-guided sampling was performed using a 2-mm to 3-mm punch through not the thickest part of the tumor. In vivo and ex vivo dermoscopic images obtained were available to the diagnosing pathologist. Melanoma samples were obtained in a referral melanoma unit. MAIN OUTCOMES AND MEASURES: In study 1, Breslow thickness in 10 melanomas was compared between sampled tissue and the remaining specimen to confirm that the area of maximal thickness remained available for the histopathological diagnosis. In study 2, forty-three additional melanomas were sampled for biobanking prospectively. Agreement between 2 independent observers on dermoscopic identification of the thickest part of the melanoma was studied. RESULTS: In study 1, the area of maximal Breslow thickness in all 10 melanomas was not sampled and remained in the main specimen. In study 2, sampling was performed by one of the investigators. Concordance was 93% between 2 independent observers for the dermoscopic selection of the thickest portion of the melanoma. Pathologists asserted that the sampling procedure did not compromise their ability to evaluate melanoma specimens. A limitation is that this is a single-center study. Each case required joint evaluation by expert dermoscopists and dermatopathologists. CONCLUSIONS AND RELEVANCE: In applying the dermoscopy-guided sampling protocol, we make the following 5 recommendations: Samples should only be obtained from areas that will not interfere with the pathologist's diagnosis and prognostic information. Sampling should not be obtained from tumors for which one suspects that the histopathological evaluation may prove difficult. Sampling should not be performed on small melanomas; we recommend a minimum diameter of 10 mm. All the dermoscopy-guided sampling should be documented with images, available to pathologists and clinicians, and reflected in the pathology report. Finally, the frozen biobank samples should be made available for routine hematoxylin-eosin histopathological evaluation until the final pathology report is produced. Ex vivo dermoscopy may serve to guide the procurement of small samples from primary melanoma for fresh tissue biobanking without compromising the histopathological evaluation.

Dermoscopic clues in the diagnosis of amelanotic and hypomelanotic malignant melanoma.

The clinical identification of amelanotic malignant melanoma (AMM) and hypomelanotic malignant melanoma (HMM) becomes difficult due to the lack of pigmentation and to the diverse clinical presentations. Dermoscopy is very useful in these cases, increasing the level of suspicion of malignancy. We report 4 cases of amelanotic malignant melanoma and hypomelanotic malignant melanoma with characteristic dermoscopic findings. Dermoscopy under polarized light demonstrates vascular polymorphism, globules and milky-red areas, in addition to chrysalis and multiple blue-gray dots.

Dermoscopic clues in the diagnosis of amelanotic and hypomelanotic malignant melanoma / Pistas dermatoscópicas no diagnóstico de melanoma maligno amelanótico e hipomelanótico

The clinical identification of amelanotic malignant melanoma (AMM) and hypomelanotic malignant melanoma (HMM) becomes difficult due to the lack of pigmentation and to the diverse clinical presentations. Dermoscopy is very useful in these cases, increasing the level of suspicion of malignancy. We report 4 cases of amelanotic malignant melanoma and hypomelanotic malignant melanoma with characteristic dermoscopic findings. Dermoscopy under polarized light demonstrates vascular polymorphism, globules and milky-red areas, in addition to chrysalis and multiple blue-gray dots.

A identificação clínica de melanoma maligno amelanótico e hipomelanótico torna-se difícil devido à falta de pigmentação e às diversas apresentações desse tipo de tumor. A dermatoscopia é muito útil nestes casos, aumentando o grau de suspeição de malignidade. Relatamos 4 casos de melanoma maligno amelanótico e melanoma maligno hipomelanótico com achados dermatoscópicos característicos. A dermatoscopia com luz polarizada demonstra polimorfismo vascular, glóbulos e áreas vermelholeitosas, assim como crisálides e múltiplos pontos azul-acinzentados.

Characterization of 1152 lesions excised over 10 years using total-body photography and digital dermatoscopy in the surveillance of patients at high risk for melanoma.

BACKGROUND: The combined use of total-body photography and digital dermatoscopy, named "two-step method of digital follow-up," allowed the detection of incipient melanoma as a result of dermatoscopic or macroscopic changes during follow-up. OBJECTIVE: We sought to assess dermatoscopic features and dynamic changes leading to excision of melanocytic lesions during our 10-year experience of monitoring patients at high risk for melanoma. METHODS: We analyzed 1152 lesions excised during the surveillance of 618 patients at high risk for melanoma from 1999 to 2008. RESULTS: A total of 779 excised lesions had been previously recorded: 728 were removed because of dermatoscopic changes during follow-up and 51 were removed even though no significant change was noted. The remaining 373 excised lesions were new or undetected on previous total-body photography. A total of 98 melanomas were detected, 60 in the monitored lesions, and 38 among the "new" lesions. The most frequent dermatoscopic changes detected were asymmetric enlargement in almost 60% (n = 418), focal changes in structure in 197 (27%) and in pigmentation in 122 (17%), the latter two being more frequently seen in melanomas than in nevi (both P < .001). No significant differences were detected between dermatoscopic or histopathological characteristics of the melanomas in each group, with a considerable proportion of melanomas misclassified as benign in both groups (26.3% and 38.3%, respectively). LIMITATIONS: The dermatoscopy pattern of stable lesions and the histopathology of lesions not removed were not included in the study. CONCLUSION: The most frequent dermatoscopic features associated with melanoma were focal change in pigmentation or structure. Melanomas detected by dermatoscopic changes were remarkably similar to those detected in total-body photography. Almost 40% of melanomas diagnosed in individuals at high risk corresponded to lesions that were not under dermatoscopic surveillance.

Benefits of total body photography and digital dermatoscopy ("two-step method of digital follow-up") in the early diagnosis of melanoma in patients at high risk for melanoma.

BACKGROUND: Early detection of melanoma is the best way to improve prognosis. Digital follow-up (DFU) programs of populations at high risk could be an efficient strategy for detecting early melanomas with low morbidity. OBJECTIVE: We sought to report the added value of the use of the "two-step method" (digital total body photography and digital dermatoscopy). METHODS: This was an analysis of the surveillance of 618 patients at high risk for melanoma included in our DFU program from 1999 to 2008. RESULTS: A total of 11,396 lesions were monitored (mean 18.44/patient) during a median follow-up of 96 months (median 10 visits/patient). A total of 1152 lesions, 1.86 per patient, were excised. Almost 70% (798) were lesions previously registered at least twice, whereas 356 (30%) were detected and removed in the same visit. During follow-up, 98 melanomas (8.5% of excised lesions) were diagnosed in 78 patients (12.6%). In all, 53 melanomas were in situ (53.3%), whereas invasive (45) showed a Breslow index of less than 1 mm (median 0.5 mm) and none were ulcerated. LIMITATIONS: Because there are no control groups we cannot determine if the combined use of total body photography and digital dermatoscopy is more beneficial than these techniques used separately. CONCLUSION: DFU with total body photography and dermatoscopy in a selected population at high risk demonstrated the early detection of melanomas with a low rate of excisions. Long-term follow-up is required to allow the detection of slow-growing melanomas. Based on our 10-year experience, melanomas can be diagnosed at any time, suggesting that in a population at high risk for melanoma, DFU should be maintained over time.

Melanomas detected in a follow-up program compared with melanomas referred to a melanoma unit.

OBJECTIVE: To compare melanomas diagnosed in patients included in follow-up programs with melanomas diagnosed in patients referred to a melanoma unit. DESIGN: Retrospective analysis of 215 consecutive melanomas diagnosed between 2007 and 2008. SETTING: Melanoma Unit, Hospital Clinic of Barcelona, Barcelona, Spain. PATIENTS: The study included 201 patients (105 men and 96 women), 40 of whom were included in a follow-up program in our unit and 161 of whom were referred for evaluation. MAIN OUTCOME MEASURES: Clinical (ABCD algorithm), dermoscopic (ABCD rule of dermoscopy), and main histologic characteristics were evaluated in both groups. RESULTS: Most melanomas diagnosed in follow-up did not fulfill some of the ABCD criteria, and only 12.0% fulfilled all 4 ABCD criteria, in contrast with 63.6% of the melanomas referred for evaluation (P < .001). The total dermoscopy score was lower in melanomas diagnosed in follow-up (5.04 vs. 6.39, P < .01), and 36% were misclassified as benign in this group according to the total dermoscopy score. Seventy percent of melanomas diagnosed in follow-up were in situ; among invasive melanomas, the Breslow index was significantly lower in the group of melanomas diagnosed in follow-up, with a mean (range) of 0.55 (0.25-0.90) mm vs 1.72 (0.25-13.00) mm (P < .001). CONCLUSIONS: The inclusion of patients who are at high risk for melanoma in follow-up programs allows the detection of melanomas in early stages, with good prognosis, even in the absence of clinical and dermoscopic features of melanoma. In the general population without specific surveillance, melanoma continues to be diagnosed at more advanced stages.

Early stages of melanoma on the limbs of high-risk patients: clinical, dermoscopic, reflectance confocal microscopy and histopathological characterization for improved recognition.

Early stages of 36 melanomas on limbs were morphologically characterised. Most occurred in high-risk patients (multiple and/or familial melanoma) attending a referral unit for melanoma and pigmented lesions. None of the tumours was clinically suspicious for melanoma (mean diameter of 4.3 mm). The tumours were classified into four dermoscopic groups: (i) prominent network (n = 16); (ii) delicate network (n = 5); (iii) hypo-pigmentation with dotted vessels (n = 10); and (iv) diffuse light pigmentation with perifollicular pigmentation (n = 5). Confocal microscopy performed in 12 cases allowed the identification of atypical, single cells within epidermal layers. Histopathology showed marked large atypical cells in a pagetoid spreading pattern in most cases. Significant associations were detected between the third dermoscopic group and naevoid histological appearance and delay in detection, and between the fourth group and lentigo-maligna-like features. Dermoscopy allowed an increase in the suspicious threshold in these difficult melanomas in high-risk patients and enabled the subclassification of early melanomas on the limbs, with a correct confocal and histopathological correlation. Although the biological behaviour of these incipient tumours remains uncertain, the most appropriate treatment seems to be recognition and proper excision.

Case for diagnosis: umbilical metastasis of pancreatic carcinoma (Sister Mary Joseph's Nodule).

A 56-year-old man was hospitalized with a history of diffuse abdominal pain. Cutaneous examination revealed an erythematous to violaceous, infiltrative nodule of the umbilicus. Histologic examination demonstrated poorly differentiated adenocarcinoma. Abdominal tomography showed advanced pancreatic cancer with metastatic involvement of the liver and the diagnosis of pancreatic adenocarcinoma with umbilical metastasis -- Sister Mary Joseph's nodule.

[Dermatological disease among HIV-infected patients with CD4-lymphocyte count]. / Dermatoses em pacientes infectados pelo HIV com a contagem de linfócitos CD4.

OBJECTIVE: To correlate the prevalence of dermatological diseases among HIV-infected patient with CD4-lymphocyte count. METHODS: A case series study was carried out in the region of Caxias do Sul, state of Rio Grande do Sul State, Brazil. Data was collected by reviewing the records of HIV-infected patients admitted to a public hospital (198 patients from March 1998 to June 2002) or seen at the university outpatient clinic (40 patients from March to June 2002). The variables analyzed were: age, sex, CD4-lymphocyte count, viral load, and dermatological diseases. Statistical analyses were performed using Student's t-test, Spearman's and Chi-Square tests. RESULTS: The frequency of dermatological disease was 67.2% among hospitalized patients and 75.0% among outpatients. Oral candidiasis was the most prevalent dermatological disease. Among the hospital population, the average CD4 count was lower among patients with dermatological disease than among those with no disease (142.34 cells/mm3 vs 512.35 cells/mm3, respectively; p=0.018). The same phenomenon was observed in outpatient population (138.88 cells/mm3 and 336.21 cells/mm3, respectively; p=0.001). In both populations, a negative correlation was found between CD4 count and the total number of dermatological diseases by a patient (p=0.000, hospital population, p=0.000, outpatient population). CONCLUSIONS: Dermatological diseases are highly prevalent among HIV-infected patients and the frequency and number of these manifestations are well correlated to the patient's immune status and disease progression.

Dermatoses em pacientes infectados pelo HIV com a contagem de linfócitos CD4 / Dermatological disease among HIV-infected patients with CD4-lymphocyte count

OBJETIVO: Correlacionar a prevalência das doenças dermatológicas entre pacientes infectados pelo HIV com a contagem de linfócitos CD4. MÉTODOS: Estudo de série de casos realizado na região de Caxias do Sul, Estado do Rio Grande do Sul. Os dados foram coletados por meio da revisão de prontuários de pacientes com infecção pelo HIV internados em hospital público (198 pacientes, período de março de 1998 a junho de 2002) ou atendidos no ambulatório central universitário (40 pacientes, período de março a junho de 2002). As variáveis analisadas foram: idade, sexo, contagem de linfócitos CD4, carga viral e doenças dermatológicas apresentadas pelo paciente. Os testes estatísticos utilizados foram o Teste t de Student, o de Spearman e o do qui-quadrado. RESULTADOS: A freqüência de doença dermatológica foi de 67,2 por cento entre os pacientes hospitalizados e de 75,0 por cento entre os pacientes ambulatoriais. Candidíase oral foi a doença dermatológica mais prevalente. Na população hospitalar, a média de células CD4 foi menor entre os pacientes com doença dermatológica dos sem doença dermatológica (142,34 células/mm vs 512,35 células/mm , respectivamente; p=0,018). O mesmo fenômeno foi observado na população ambulatorial (138,88 células/mm e 336,21 células/mm , respectivamente; p=0,001). Verificou-se, em ambas as populações, uma correlação negativa entre a contagem de CD4 e o número total de doenças dermatológicas apresentadas pelo paciente (p=0,000, população hospitalar; p=0,000, população ambulatorial). CONCLUSÕES: As doenças dermatológicas são altamente prevalentes entre os pacientes infectados pelo HIV, sendo que a freqüência e o número dessas manifestações correlacionam-se bem com o status imunológico do paciente e com a progressão da doença.

Freqüência de aconselhamento para prevenção de câncer da pele entre as diversas especialidades médicas em Caxias do Sul / Frequency of counseling for skin cancer prevention by the various specialties in Caxias do Sul

FUNDAMENTOS: O câncer da pele é a forma mais comum de câncer atualmente, apesar de ser um dos mais preveníveis. Não foram encontrados dados na literatura nacional quanto à freqüência de orientação para prevenção desse tipo de câncer de acordo com as diversas especialidades médicas. OBJETIVOS: O objetivo do trabalho foi verificar a freqüência de aconselhamento para prevenção de câncer da pele entre as diversas especialidades médicas em uma amostra da população de Caxias do Sul. MÉTODOS: Trata-se de um estudo transversal. Foram entrevistadas e examinadas 499 pessoas que procuraram atendimento na área de dermatologia em ações comunitárias realizadas em Caxias do Sul de janeiro a julho de 2002. RESULTADOS: Apenas 31,9 por cento (n=159; IC 27,8 - 36,2) das pessoas entrevistadas já haviam recebido aconselhamento pela classe médica para prevenção de câncer da pele. Os pacientes de alto risco com o maior potencial para intervenção, ou seja, pacientes com idade inferior a 20 anos, receberam orientação em freqüência menor do que os pacientes com 20 anos ou mais (26,5 por cento versus 42,5 por cento, respectivamente; p = 0,03). A especialidade de dermatologia foi responsável por mais da metade dos aconselhamentos para prevenção de câncer da pele na população estudada. CONCLUSÃO: A freqüência de aconselhamento para prevenção de câncer da pele pelos profissionais da saúde é baixa, mesmo para os pacientes de alto risco. A orientação também varia de acordo com a especialidade consultada, tendo apenas a especialidade de dermatologia apresentado alta freqüência de aconselhamento.

Síndrome da maquiagem de kabuki / Kabuki make-up syndrome

A Síndrome da Maquiagem de Kabuki é uma anomalia congênita rara, caracterizada por cinco características fundamentais, a "Pêntade de Niikawa": face dismórfica; anomalias esqueléticas; alterações dematoglíficas; leve a moderado retardo mental; retardo do crescimento pós-natal. Os aspectos ortopédicos incluem escoliose, malformação da coluna vertebral e costelas, maturação óssea retardada, luxação congênita do quadril e luxação patelar, entre outras. Com o objetivo de chamar a atenção para este diagnóstico, é apresentado o caso de paciente de cinco anos de idade, brasileira, feminina, portadora da síndrome. É conveniente apresentar este caso para atentar a existência dessa síndrome e toda sua complexidade e, assim, auxiliar futuros diagnósticos.