Identifying unmet needs and challenges in the definition of a plaque in mycosis fungoides: An EORTC-CLTG/ISCL survey.

BACKGROUND: Consensus about the definition and classification of 'plaque' in mycosis fungoides is lacking. OBJECTIVES: To delineate a comprehensive view on how the 'plaque' entity is defined and managed in clinical practice; to evaluate whether the current positioning of plaques in the TNMB classification is adequate. METHODS: A 12-item survey was circulated within a selected panel of 22 experts (pathologists, dermatologists, haematologists and oncologists), members of the EORTC and International Society for Cutaneous Lymphoma. The questionnaire discussed clinical and histopathological definitions of plaques and its relationship with staging and treatment. RESULTS: Total consensus and very high agreement rates were reached in 33.3% of questions, as all panellists regularly check for the presence of plaques, agree to evaluate the presence of plaques as a potential separate T class, and concur on the important distinction between plaque and patch for the management of early-stage MF. High agreement was reached in 41.7% of questions, since more than 50% of the responders use Olsen's definition of plaque, recommend the distinction between thin/thick plaques, and agree on performing a biopsy on the most infiltrated/indurated lesion. High divergence rates (25%) were reported regarding the possibility of a clinically based distinction between thin and thick plaques and the role of histopathology to plaque definition. CONCLUSIONS: The definition of 'plaque' is commonly perceived as a clinical entity and its integration with histopathological features is generally reserved to specific cases. To date, no consensus is achieved as for the exact definition of thin and thick plaques and current positioning of plaques within the TNMB system is considered clinically inadequate. Prospective studies evaluating the role of histopathological parameters and other biomarkers, as well as promising diagnostic tools, such as US/RM imaging and high-throughput blood sequencing, are much needed to fully integrate current clinical definitions with more objective parameters.

Ganglio centinela en el melanoma cutáneo / Sentinel node in cutaneous melanoma

La biopsia selectiva del ganglio centinela (BSGC) se ha desarrollado de tal manera que reemplazó a la linfadenectomía electiva en el tratamiento del melanoma cutáneo (MC). Numerosos estudios demostraron que el estado del ganglio centinela es un factor pronóstico independiente en relación con la supervivencia global y la supervivencia libre de enfermedad de los pacientes con melanoma. El objetivo del presente trabajo fue realizar una revisión bibliográfica para comprender la utilidad y las indicaciones de la BSGC en pacientes con MC a partir de la evidencia actual publicada.

Sentinel lymph biopsy (SLNB) has been developed in such a way that is has replaced elective lymphadenectomy in the treatment of cutaneous melanoma (CM). Numerous studies have shwn that sentinel node status is an independent prognostic factor in relation to overall survival and disease-free survival of patients with CM. The purpose of this article is to carry out a literature review to understand the usefulness and indications of SLNB in patients with CM based on the current evidence.

Linfoma primario cutáneo de células T epidermotropo agresivo CD8+ / Primary cutaneous aggressive epidermotropic CD8 + T-cell lymphoma

El linfoma de células T epidermotropo agresivo CD8+ o linfoma de Berti es un subtipo infrecuente de los linfomas primarios cutáneos, descripto en 1999. Aún se considera una entidad provisional en la última clasificación de linfomas cutáneos primarios de la Organización Mundial de la Salud. Predomina en los hombres adultos y se manifiesta con pápulas, placas hiperqueratósicas y tumores ulcerados, diseminados y de inicio agudo. En la histopatología, es característica la presencia de un infiltrado de linfocitos atípicos medianos CD8 +, con epidermotropismo de patrón pagetoide. Tiene un comportamiento agresivo y es de mal pronóstico, con una sobrevida a los 5 años menor del 40%. Si bien esta entidad es un reto terapéutico, el tratamiento inicial se basa en poliquimioterapia y/o trasplante de células hematopoyéticas.

The aggressive epidermotropic CD8+ T-cell lymphoma or Berti's lymphoma, is a rare subtype of primary cutaneous lymphomas, first described in 1999. It is still considered a provisional entity by the latest World Health Organization classification of cutaneous lymphomas. Patients are commonly adults with a male predominance and it is characterized by widespread rapid evolving papules, hyperkeratotic annular plaques and ulcerated tumors. Histopathologicfindingsarecharacteristic,withaninfiltrate of medium-sized CD8+ atypical lymphocytes involving the epidermis with a pagetoid pattern. Ithasanaggressivebehaviorandtheprognosisispoor with a 5-yearsurvival less than 40%. Instead these disease represents a therapeutic challenge, the initial treatment consists on polychemotherapy and hematopoietic stem cell transplantation.

Síndrome de Sézary. Etiopatogenia, epidemiología, clínica, diagnóstico y pronóstico / Sézary syndrome Pathogenesis, epidemiology, clinical features, diagnosis and prognosis

El síndrome de Sézary (SS) es una rara y agresiva variante leucémica del linfoma cutáneo de células T, de pronóstico ominoso. Se caracteriza por presentar la tríada eritrodermia, linfadenopatías y linfocitos T neoplásicos circulantes. El diagnóstico está dado por la clínica, el estudio histopatológico, la citometría de flujo y el reordenamiento genético del receptor del linfocito T. En esta revisión se analizan la presentación clínica, la histopatología, el diagnóstico y el pronóstico de este síndrome. (AU)

Sézary syndrome (SS) is a rare and aggressive leukemic cutaneous T-cell lymphoma with poor prognosis. Is characterized by a triad of erythroderma, lymphadenopathy and circulating neoplastic T cells. Diagnosis is made by clinical features, histopathology, flow cytometry and T-cell receptor gene rearrangements. In this review we will analyze clinical presentation, histopathology, diagnosis and prognosis of SS. (AU)

Nevo de Jadassohn asociado a siringocistoadenoma papilífero / Associated Jadessohn's nevus syringocistoadenoma papilífero

El siringocistoadenoma papilífero (SCAP) es un tumor anexial benigno, poco frecuente, que deriva de las glándulas sudoríparas écrinas o apócrinas. Afecta a ambos sexos por igual, se observa desde el nacimiento o en la primera infancia. Se manifiesta como una placa solitaria alopécica en cuero cabelludo, o como pápulas de color piel en rostro y cuello. En el 40% de los casos se asocia a un nevo sebáceo preexistente. El tratamiento de elección es la extirpación quirúrgica. Se presenta un varón de 14 años, con un nevo de Jadassohn presente desde el nacimiento, que desarrolló años posteriores un SCAP. Palabras clave Nevo de Jadassohn, nevo sebáceo, siringocistoadenoma papilífero, tumor anexial benigno.

The syringocystadenoma papilliferum (SCAP) is an adnexal benign tumor, uncommon, which derives from the eccrine or apocrine sebaceous glands. It affects both sexes equally, it occurs most frequently from birth or early childhood. It manifests clinically as a solitary raised plate located mainly on scalp, or as papules in face, and neck. In 40% of the cases it is associated with a pre-existing sebaceous nevus. The treatment of choice is surgery. We present a 14 year old male, with a history of a nevus of Jadassohn present from birth, that years later developed a SCAP

Incontinencia pigmenti / Pigment incontinence

La incontinencia pigmenti es una genodermatosis poco frecuente, de herencia dominante ligada al X, que se caracteriza por la presencia de lesiones cutáneas típicas que pueden asociarse con afectación de otros tejidos derivados del neuroectodermo. Es una enfermedad potencialmente grave, que requiere un diagnóstico precoz y un seguimiento multidisciplinario de por vida.Se presenta el caso de un paciente de sexo femenino de 6 días de vida con diagnóstico clínico y anatomopatológico de incontinencia pigmenti

Incontinentiapigmenti is a rare, X-linked dominantgenodermatosis, characterized by the presence of typical skin lesions that may be associated with involvement of other tissues derived from neuroectoderm. It is a potentially serious disease that requires early diagnosis and a multidisciplinary life-long follow up.Wereport the case of a 6 day old femalewith a clinical and anatomopathological diagnosis of incontinenciapigmenti.

Primary cutaneous lymphoma in Argentina: a report of a nationwide study of 416 patients.

BACKGROUND: The aim of this study was to determine the relative frequency of primary cutaneous lymphoma (PCL) in Argentina according to the new World Health Organization (WHO)-European Organization for the Research and Treatment of Cancer (EORTC) classification system. METHODS: A total of 416 patients from 21 dermatology services were included during a 5-year period (2010-2015); these patients were classified using WHO-EORTC criteria. RESULTS: There were 231 (55.2%) males and 185 (44.8%) females; the male-to-female ratio was 1.35. The median age of the patients was 57 years (range, 0-90 years). Most patients were Caucasian (79%), and only 16% of patients were registered as Amerindian. Most patients (387/416, 93%) had cutaneous T-cell lymphoma (CTCL); 28 patients (6.7%) were diagnosed with cutaneous B-cell lymphoma (CBCL). The most frequent CTCL subtypes, in decreasing order of prevalence, were mycosis fungoides (MF), including its variants (75.7%); CD30+ primary cutaneous lymphoproliferative disorders (7.2%); and Sézary syndrome (SS) (3.1%). Cutaneous follicle center lymphoma was the most common CBCL subtype (2.9%). In the subset of patients ≤20 years of age, the most common condition was MF (57%), followed by extranodal NK-T nasal-type lymphoma (14%). CONCLUSIONS: This study revealed relatively higher rates of MF and lower rates of CBCL in Argentinean patients that have been reported in American and European countries.

Cutaneous human papillomavirus genotypes in different kinds of skin lesions in Argentina.

Cutaneous human papillomaviruses (HPVs) comprise a large and highly heterogeneous virus group. Some of the cutaneous HPVs of the genus Beta have been suggested as a co-factor in the development of non-melanoma skin cancer (NMSC). The aim of this study was to determine cutaneous HPV prevalence and type-specific distribution in different kinds of skin lesions from Argentine patients visiting Dermatology Departments of three hospitals from Buenos Aires. A cross-sectional analysis was performed. HPV DNA was analyzed in (i) 3 patients with Epidermodysplasia verruciformis (EV) harboring benign lesions (BL) (n = 1) and squamous cell carcinoma (SCC) (n = 4); (ii) 240 non-EV patients harboring: (a) BL (n = 38), (b) Actinic Keratosis (AK) (n = 83), (c) SCC (n = 74), and (d) basal cell carcinoma (BCC) (n = 96). Detection and genotyping of 35 cutaneous HPV DNA was carried out by BGC-PCR and GP5+/6 + PCR followed by reverse line blot assay. In EV patients, Beta types were found in all lesions (5/5), including the potentially high-risk HPV types 5 and 8, mostly in multiple infections. In non-EV patients, cutaneous types were found in 50.0% of BL, 43.4% of AK, 31.1% of SCC, and 16.7% of BCC. Beta HPVs were the most frequently found in all lesions, being present in all AK and SCC cases that were positive for HPV. No type-specific correlation with lesion severity was found. In our series, a wide spectrum of cutaneous HPV types was detected in different skin lesions. A possible role for these HPVs in skin carcinogenesis deserves further study. J. Med. Virol. 89:352-357, 2017. © 2016 Wiley Periodicals, Inc.

Genomic imbalances and microRNA transcriptional profiles in patients with mycosis fungoides.

Mycosis fungoides is the most common type of primary cutaneous T cell lymphoma. We have evaluated CDKN2A losses and MYC gains/amplifications by FISH analysis, as well as expression of miR-155 and members of the oncogenic cluster miR-17-92 (miR17, miR18a, miR19b, and miR92a) in MF patients with advanced disease. Formalin-fixed paraffin-embedded skin biopsies from 36 patients at diagnosis, 16 with tumoral MF (T-MF), 13 in histological transformation to a large T cell lymphoma (TR-MF), and 7 cases with folliculotropic variant (F-MF), were studied. Twenty cases showed genomic alterations (GAs): 8 (40 %) had CDKN2A deletion, 7 (35 %) showed MYC gain, and 5 (25 %) exhibited both alterations. GAs were more frequently observed in F-MF (p = 0.004) and TR-MF (p = 0.0001) than T-MF. GAs were significantly higher in cases presenting lesions in head, neck, and lower extremities compared to those observed in trunk and upper extremities (p = 0.03), when ≥25 % neoplastic cells were CD30 positive (p = 0.016) as well as in cases with higher Ki-67 proliferation index (p = 0.003). Patients with GAs showed bad response to treatment (p = 0.02) and short survival (p = 0.04). Furthermore, MF patients showed higher miRNA expression compared to controls (p ≤ 0.0223). T-MF showed higher miR17 and miR-18a expression compared to F-MF and TR-MF (p ≤ 0.0387) while miR19b, miR92a, and miR-155 showed increased levels in F-MF and TR-MF with respect to T-MF (p ≤ 0.0360). Increased expression of miR17 and miR19b in GA group compared to cases without alterations (p ≥ 0.0307) was also detected. Our results add new information about genomic imbalances in MF patients, particularly in F-MF, and extend the present view of miRNA deregulation in this disease.

Liquen escleroso extragenital: Presentación de un caso / Lichen scleros extragenital: presentation of a case

El liquen escleroso es una enfermedad crónica inflamatoria de causa desconocida. En hombres su presentación es infrecuente y se observa más comúnmente en la cuarta década de la vida. Asimismo, las lesiones extragenitales son inusuales y asientan más comúnmente en extremidades y tronco. A continuación, presentamos un paciente de sexo masculino adolescente con diagnóstico de liquen escleroso en dorso

Lichen sclerosus is a chronic inflammatory disease of unknown etiology. Appearance in men is unusual and is most seen at fourth decade of life. Also extragenital lesions are rare and most commonly settle in extremities and trunk. A case of a male adolescent patient with lichen sclerosus in trunk is reported.

Dermatitis herpetiforme y enfermedad celíaca / Dermatitis herpetiformis and celiac disease

La dermatitis herpetiforme (DH) es una enfermedad crónica y ampollar caracterizada por la presencia de lesiones intensamente pruriginosas, de ubicación característica, y por asociarse en todos los casos a enfermedad celíaca (EC) (sintomática o no). Ambas entidades se consideran una expresión, en diferentes órganos, de hipersensibilidad al gluten. Se presenta una serie de cuatro pacientes de sexo femenino, con un promedio de 46 años, que consultaron por la aparición de pápulas, lesiones erosivocostrosas, excoriaciones y ampollas, pruriginosas, localizadas predominantemente en los codos, las rodillas y el dorso superior. Referían brotes intermitentes con un tiempo de evolución de entre 6 meses y 10 años. Se realizó una biopsia cutánea y estudio histopatológico que evidenció la presencia de una dermatosis ampollar subepidérmica con neutrófilos e IFD positiva en tres de las pacientes, y que confirmó el diagnóstico de dermatitis herpetiforme. Los hallazgos de laboratorio y la videoendoscopia digestiva alta con toma de biopsia fueron compatibles, en todos los casos, con enfermedad celíaca. Se les indicó dieta libre de gluten (DLG) a todas las pacientes; en una de ellas fue suficiente para lograr la remisión completa de las lesiones después de 3 meses; las tres restantes requirieron tratamiento con dapsona para controlar la enfermedad (AU)

Dermatitis herpetiformis (DH) is a chronic, bullous disease, which is characterized by intensely pruritic lesions, property location and diagnosis in all cases of celiac disease (CD) (symptomatic or not). Both entities are considered expression in different organs of hypersensitivity to gluten. A series of four female patients is presented with an average of 46 years who consulted by the appearance of papules, erosivocostrosas injuries, abrasions and blisters, itchy, localized predominantly on elbows, knees and upper back. Intermittent outbreaks concerned with evolution time between 6 months and 10 years. IFD positive skin biopsy and histopathological study showed subepidermal bullous dermatosis with neutrophils was performed, and in three of the patients confirmed the diagnosis of dermatitis herpetiformis. Laboratory findings and upper gastrointestinal video endoscopy with biopsy were compatible in every case with celiac disease. Gluten-free diet in all patients indicated, one of them was enough to achieve complete remission of lesions after three months; the remaining three required starting dapsone for disease control (AU)

Enfermedad de Darier: comunicación de 4 casos / Darier’s disease: a report of four cases

La enfermedad de Darier (o disqueratosis folicular) es una genodermatosis de herencia autosómica dominante poco frecuente,en la que existe una mutación del gen que codifica la enzima calcio ATPasa del retículo endoplásmico, que se expresa en piel y cerebro. Se caracteriza por la pérdida de adhesión entre los queratinocitos epidérmicos suprabasales y una queratinización anormal en piel, uñas y mucosas. Clínicamente se manifiesta con pápulas eritemato parduzcas queratósicas localizadas en áreas seborreicas, pápulas y hoyuelos palmo plantares, pápulas blanquecinas en mucosa oral y alteraciones ungueales. A nivel histopatológico, se observa disqueratosis acantolítica, hendiduras suprabasales, cuerpos redondos y granos. Pueden asociarse a esta entidad trastornos auditivos y neuropsiquiátricos, principalmente en pacientes con antecedentes familiares de enfermedad de Darier. Presentamos 4 pacientes, 2 masculinos y 2 femeninos, de entre 30 y 61 años de edad, que presentaron hallazgos clínicos e histopatológicos de enfermedad de Darier, desde la segunda década de la vida. Sólo uno refirió antecedentes familiares de esta entidad. Una paciente presentó un síndrome depresivo durante su seguimiento. Tres de ellos realizaron tratamientos con retinoides tópicos y sólo uno con retinoides sistémicos con mejoría parcial en todos los casos.

Darier Disease or keratosis follicularis is an uncommon genodermatosis inherited in an autosomal dominant pattern, characterized by mutations in the gene ATP2A2 which encodes the reticulum endoplasmic enzyme calcium ATPase expressed in skin and brain. Clinical features of this disorder are: keratotic papules located in seborrheic areas, palmoplantar papules and pits, white papules on oral mucosa and nail abnormalities. There may be an association with hearing and neuropsychiatric disorders, especially in patients with a family history of Darier disease. This disorder is histologically characterized by loss of adhesion between the suprabasal epidermal keratinocytes (suprabasal clefts), aberrant epidermal keratinization (focal acantholitic dyskeratosis), round bodies and grains. We present 4 patients, 2 male and 2 female, aged between 30 and 61 years old, who had clinical and histopathologic findings of Darier’s disease, since the second decade of their lives. Just one of them referred family history of this condition. One patient presented a depressive syndrome during his follow-up. Three of them were treated with topical retinoids and the other one with systemic retinoids with partial improvement in all of them.

Leishmaniasis cutánea: presentación inusual en placa verrucosa / Cutaneous leishmaniasis: inusual verrucous plaque presentation

La leishmaniasis es una enfermedad zoonótica de distribución mundial que puede presentarmúltiples manifestaciones clínicas. Se presenta el caso de un paciente con leishmaniasiscutánea en placa verrucosa de 8 años de evolución confirmada por PCR ycon buena respuesta al tratamiento con antimoniato de meglumina. La leishmaniasiscutánea verrucosa es una variante clínica infrecuente, de evolución crónica y difícil diagnóstico...

Queilitis granulomatosa de Miescher / Granulomatous Miescher cheilitis

La queilitis granulomatosa de Miescher es la forma monosintomática más frecuente del síndrome de Melkersson-Rosenthal, cuya tríada clásica se completa con la presencia de parálisis facial y lengua fisurada. Es una entidad de causa desconocida, curso crónico eincierto y difícil tratamiento, que muchas veces requiere múltiples modalidades terapéuticas y seguimiento a largo plazo.Se presenta el caso de una paciente con edema labial permanente que evoluciona con múltiples brotes recurrentes...

Hemiatrofia facial progresiva y morfea en golpe de sable: ¿entidades diferentes o un espectro de la misma enfermedad? / Progressive facial hemiatrophy and morphea en coup de sabre: different entities or a spectrum of the same disease?

La hemiatrofia facial progresiva (HFP) o síndrome de Parry-Romberg se caracteriza por lapresencia de lesiones atróficas que comprometen unilateralmente la piel de la cara. Lamorfea en golpe de sable (MGS) es un subtipo de esclerodermia localizada de disposición lineal en cara o cuero cabelludo. Ambas comparten múltiples características, por lo que diferenciarlas suele ser un gran desafío. Existen controversias acerca de si son procesosindependientes o un espectro de una misma enfermedad. Objetivos. Describir las características clínicas, hallazgos histológicos y de laboratorio delos pacientes con diagnóstico de HFP, MGS o ambas entidades evaluados en nuestro servicio. Comparar ambas patologías y revisar la bibliografía publicada para intentar esclarecersi son entidades independientes o un espectro de la misma enfermedad.Material y métodos. Se realizó un estudio retrospectivo y descriptivo. Se incluyerontodos los pacientes con diagnóstico de HFP, MGS o ambas entidades evaluados desde enero de 2002 hasta julio de 2014. Resultados.Se encontraron 83 pacientes con esclerodermia localizada. Se seleccionaron 12 pacientes: 4 con MGS, 4 con HFP y 4 con ambas entidades. Se observó la coexistenciacon morfea en área extracefálica en un 25%, sin predominio por ningún grupo. En relación con las manifestaciones extracutáneas, el 41,66% presentó alteraciones oftalmológicas y/o otorrinolaringológicas, principalmente en el grupo con HFP o ambas patologías.Ningún paciente presentó alteraciones neurológicas. Sólo 2 pacientes, una con diagnóstico de HFP y otra con HFP + MGS, presentaron FAN reactivo. Todos los pacientes presentaron estudio histopatológico compatible. Se pudieron revisar 6/12 biopsias cutáneas. Los principales hallazgos histopatológicos independientemente del diagnóstico clínico fueron: esclerosis con hialinización del colágeno e infiltrado inflamatorio mononuclear. Conclusion. Los hallazgos del presente estudio respecto de la clínica, la histología...

Manifestaciones dermatológicas secundarias al tratamiento con sorafenib: presentación de dos casos / Dermatologic manifestations secondary to treatment with sorafenib: report of two cases

El sorafenib es un fármaco antineoplásico que actúa como inhibidor de multiquinasas, suprime la proliferación tumoral y la angiogénesis. Su administración es vía oral y se utiliza en el tratamiento de tumores sólidos avanzados, como el carcinoma hepatocelular y el carcinoma de células renales. Si bien los efectos adversos más comunes incluyen diarrea, náuseas, fatiga e hipertensión arterial, más del 90 % de los pacientes tratados con sorafenib presenta alguna manifestación dermatológicacomo eritrodisestesia palmoplantar, eritema facial, alopecia y hemorragias subungueales en astillas dentro de las primeras semanas del inicio del tratamiento. Comunicamos el caso de dos pacientes, uno de sexo femenino y otro masculino, de 41 y 67 años de edad respectivamente, tratados con sorafenib por metástasis hepáticas de un tumor primario desconocido en el primer caso, y hepatocarcinoma en el segundo. Los dos pacientes presentaron lesiones cutáneas asociadas al uso de esta droga...

[Lichen nitidus. Report of two cases, one of them with a generalized distribution]. / Liquen nitidus. Presentación de dos casos, uno de ellos generalizado.

Lichen nitidus is a dermatosis of unknown origin, characterized by the presence of shiny, pinpoint, skin-colored papules that may be asymptomatic or slightly pruriginous. They usually affect forearms, abdomen, buttocks and genitals. We report two cases, one of them with a generalized presentation. Both were treated with topical steroids with good results. A review of this pathology and its therapeutic options is held.