Abdominal tumors in patients with neurofibromatosis type I: Genotype-phenotype relationships.

BACKGROUND: Gastrointestinal stromal tumors have been detected in 25% of the necropsies performed on NF1 patients, but have been reported only in 7% of NF1 patients in the largest series. Such data imply an important gap between the true presence of tumors and those diagnosed. Few genotype-phenotype relationships have been described but to date none referring to abdominal tumors. OBJECTIVES: Evaluate retrospectively the efficacy of a regular and proactive follow-up of NF1 patients to early diagnose abdominal tumors and report their mutations. METHODS: Cohort study performed between 2010 and 2020, with 43 NF1 adult patients followed at our Dermatology department. RESULTS: Eight abdominal tumors were diagnosed in six patients, meaning that 14% of the followed patients developed an abdominal tumor. Five patients (83%) were asymptomatic. Five (83.3%) had a family history of NF1 with abdominal tumors (patients 1,2 and 3,4,5 were relatives). CONCLUSIONS: Although currently gastrointestinal routine screening investigations for asymptomatic patients are not recommended in the guidelines, the family aggregation in our series suggests it should be considered a close follow-up of the relatives of a patient with an NF1-related abdominal tumor. Also, for the first time, two mutations [c.2041C > T (p.Arg681Ter) and c.4537C > T (p.Arg1513*)] have been associated with family aggregation of abdominal tumors in NF1 patients.

Unilateral milia-type intradermal tophi associated with underlying urate subcutaneous deposition: an uncommon cutaneous presentation of gout.

Tophi develop during the most advanced clinical stage of gout, and are usually located on or around the joints. However, unusual skin features caused by intradermal and/or subcutaneous deposition of tophaceous material at locations other than articular regions have been reported. We present the case of a patient with a condition that has been recently termed 'miliarial gout'. which is only the second such case, to our knowledge. A 51-year-old woman, who had a chronic joint disease that had been diagnosed and treated as psoriatic arthritis, presented with multiple asymptomatic, yellowish-white, firm papules (1-3 mm in size) on erythematous areas on the outside of her left leg. On histological examination of a skin biopsy, uric acid crystals were seen in the dermis and subcutis. The patient also had a raised level of serum urate, consistent with a diagnosis of gout. Treatment with allopurinol led to rapid improvement. Intake of corticosteroids and diuretics was a possible triggering factor for the development of cutaneous tophi in this patient.

Tratamiento neoadyuvante con acitretino oral e imiquimod tópico en el carcinoma basocelular gigante / Oral Acitretin and Topical Imiquimod as Neoadjuvant Treatment for Giant Basal Cell Carcinoma

El carcinoma basocelular (CBC) gigante se define como aquel que mide 5cm o más. Aunque la cirugía se considera el tratamiento de elección para cualquier tipo de CBC, en los de gran tamaño, puede ser altamente destructiva. Así, utilizamos la combinación de acitretino oral e imiquimod 5% tópico como tratamiento neoadyuvante en dos pacientes afectos de un CBC gigante. El acitretino es un retinoide sistémico que se utiliza en la prevención primaria del cáncer cutáneo no melanoma. El imiquimod es un inmunomodulador aprobado para el tratamiento, entre otros, de CBC superficiales no faciales menores de 2cm. Estudios previos han demostrado una acción sinérgica anticarcinogénica de ambos fármacos, tanto in vivo como in vitro. Dicha combinación produjo en nuestros pacientes una gran reducción de la masa tumoral, lo que nos permitió aplicar posteriormente un tratamiento definitivo con la remisión completa de los CBC (AU)

Giant basal cell carcinoma (BCC) is defined as a tumor with a diameter of 5cm or more. Surgery, the treatment of choice for any type of BCC, can cause considerable anatomical damage in large tumors. In 2 patients with giant BCC we therefore provided neoadjuvant treatment with a combination of oral acitretin and topical 5% imiquimod. Acitretin is a systemic retinoid used for primary prevention of nonmelanoma skin cancer. Imiquimod is an immunomodulator whose approved indications include treatment of non facial superficial BCC less than 2cm in diameter. Previous studies have demonstrated a synergic anticancer effect of both drugs in vitro and in vivo. This combination produced a marked reduction in tumor mass in our patients. Later we were able to provide definitive treatment, which achieved complete remission of the tumors (AU)

[Oral acitretin and topical imiquimod as neoadjuvant treatment for giant basal cell carcinoma]. / Tratamiento neoadyuvante con acitretino oral e imiquimod tópico en el carcinoma basocelular gigante.

Giant basal cell carcinoma (BCC) is defined as a tumor with a diameter of 5 cm or more. Surgery, the treatment of choice for any type of BCC, can cause considerable anatomical damage in large tumors. In 2 patients with giant BCC we therefore provided neoadjuvant treatment with a combination of oral acitretin and topical 5% imiquimod. Acitretin is a systemic retinoid used for primary prevention of nonmelanoma skin cancer. Imiquimod is an immunomodulator whose approved indications include treatment of nonfacial superficial BCC less than 2 cm in diameter. Previous studies have demonstrated a synergic anticancer effect of both drugs in vitro and in vivo. This combination produced a marked reduction in tumor mass in our patients. Later we were able to provide definitive treatment, which achieved complete remission of the tumors.

[Use of www.dermatoweb.net to support undergraduate teaching of dermatology]. / www.dermatoweb.net. Una web docente para el aprendizaje de la Dermatología en el pregrado.

Dermatoweb is a website to aid undergraduate dermatology training. It includes the dermatology program of the Lerida Faculty of Medicine, and is based principally on clinical presentations, tables with the differential diagnosis of the 20 most common reasons for dermatologic consultation, about 200 clinical test cases to stimulate self-training, and a subject list with the 32 topics that make up the dermatology syllabus in many faculties of medicine. Thanks to this website, some of our students achieve high marks in dermatology despite hardly coming to classes. In addition, therapeutic guidelines for the common dermatoses can be found on the site, and an atlas with more than 5,300 photographs and almost 100 videos on the more common dermatological procedures; these can serve as a visual aid for family doctors, residents in dermatology in the initial years, and practicing dermatologists.

www.dermatoweb.net. Una web docente para el aprendizajede la Dermatología en el pregrado / Use of www. dermatoweb. net to Support Undergraduate Teaching of Dermatology

Dermatoweb es una web de ayuda para el aprendizaje de la Dermatología durante el pregrado. Contiene el programa de la asignatura de la Facultad de Medicina de Lleida, basado principalmente en presentaciones clínicas, unas tablas con el diagnóstico diferencial de los 20 motivos de consulta más frecuentes en Dermatología, unos 200 casos clínicos problema, para estimular el autoaprendizaje, y un temario con los 32 temas que conforman el programa de Dermatología de muchas de las facultades de Medicina. Gracias a la web algunos de nuestros estudiantes superan la asignatura de forma notable sin apenas haber venido a clase. Contiene además unas guías terapéuticas de las dermatosis comunes, un atlas con más de 5.300 fotografías y cerca de 100 vídeos referentes a los procedimientos dermatológicos más empleados que pueden servir de ayuda para el médico de familia, los residentes de Dermatología de los primeros años y el dermatólogo práctico (AU)

Dermatoweb is a website to aid undergraduate dermatology training. It includes the dermatology program of the Lerida Faculty of Medicine, and is based principally on clinical presentations, tables with the differential diagnosis of the 20 most common reasons for dermatologic consultation, about 200 clinical test cases to stimulate self-training, and a subject list with the 32 topics that make up the dermatology syllabus in many faculties of medicine. Thanks to this website, some of our students achieve high marks in dermatology despite hardly coming to classes. In addition, therapeutic guidelines for the common dermatoses can be found on the site, and an atlas with more than 5,300 photographs and almost 100 videos on the more common dermatological procedures; these can serve as a visual aid for family doctors, residents in dermatology in the initial years, and practicing dermatologists (AU)

Expression of somatostatin receptors in human melanoma cell lines: effect of two different somatostatin analogues, octreotide and SOM230, on cell proliferation.

Somatostatin analogues (SAs) are potential anticancer agents. This study was designed to investigate the expression of somatostatin receptors (SSTRs) in melanoma cells and the effect of two SAs on cell proliferation and viability. Eighteen primary and metastatic human cutaneous melanoma cell lines were treated with octreotide and SOM230. Expression of SSTR1, SSTR2, SSTR3 and SSTR5 was assessed by real-time polymerase chain reaction. Proliferation, viability and cell death were assessed using standard assays. Inhibition was modelled by mixed-effect regression. Melanoma cells expressed one or more SSTR. Both SAs inhibited proliferation of most melanoma cell lines, but inhibition was < 50%. Neither SA affected cell viability or induced cell death. The results suggest that melanoma cell lines express SSTRs. The SAs investigated, under the conditions used in this study, did not, however, significantly inhibit melanoma growth or induce cell death. Novel SAs, combination therapy with SAs and their anti-angiogenic properties should be further investigated.

Eritema nodoso asociado a tinea capitis inflamatoria (querión de Celso) / Erythema nodosum associated with inflammatory Tinea Capitis (Kerion Celso)

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[Childhood dermatosis in a dermatology clinic of a general university hospital in Spain]. / Dermatosis infantiles en la consulta de Dermatología de un hospital general universitario en España.

BACKGROUND AND OBJECTIVES: Pediatric dermatology is a relatively new subspecialty for which few epidemiological studies are available. We aimed to determine the work load associated with this subspecialty and the most common presenting complaints among pediatric patients in the general dermatology clinic of our hospital. METHODS: A descriptive study was performed based on hospital records to analyze patients aged 16 years or under seen in our department in 2005 and their diagnoses. RESULTS: Pediatric dermatology accounts for 12.1 % of the work load in our department (1,329/10,998 patients were

Dermatosis infantiles en la consulta de Dermatología de un hospital general universitario en España / Childhood dermatosis in a dermatology clinic of a general university hospital in Spain

Introducción y objetivos. La Dermatología Pediátrica es una subespecialidad relativamente nueva sobre la que existen pocos estudios epidemiológicos. Nos proponemos determinar la carga de trabajo que representa en una consulta de Dermatología general y cuáles son los motivos de consulta más frecuentes en nuestro centro en este grupo de edad. Métodos. Estudio descriptivo del registro del Servicio de Dermatología sobre las visitas realizadas a pacientes de # 16 años de edad en el año 2005 y sus diagnósticos. Resultados. La Dermatología Pediátrica representa el 12,1 % de nuestra carga de trabajo (1.329/10.998 visitas fueron a # 16 años). Por grupos, los tumores y las infecciones fueron los diagnósticos más frecuentes, ya que entre ambos representan el 55,4 % del total. A distancia les siguen los eczemas (15,0 %) y las enfermedades anexiales (8,8 %). El diagnóstico individual más frecuente fue nevo melanocítico (19,8 %), seguido de verruga vírica (12,1 %), dermatitis atópica (8,9 %), molusco contagioso (8,4 %) y acné (7,0 %). Conclusiones. En la mayoría de países desarrollados la dermatitis atópica es el diagnóstico más frecuente en los niños. En nuestro estudio los nevos melanocíticos ocupan el primer lugar, lo que quizá refleje que existan más niños con múltiples nevos porque se toma el sol en exceso, o por la melanofobia existente entre la población. También es posible que en nuestra área exista menos dermatitis atópica que en países más industrializados del norte de Europa. Se deberían impulsar conductas de fotoevitación y fotoprotección durante la época infantil. Ello podría contribuir a frenar, en nuestro medio, el incremento del melanoma en el adulto (AU)

Background and objectives. Pediatric dermatology is a relatively new subspecialty for which few epidemiological studies are available. We aimed to determine the work load associated with this subspecialty and the most common presenting complaints among pediatric patients in the general dermatology clinic of our hospital. Methods. A descriptive study was performed based on hospital records to analyze patients aged 16 years or under seen in our department in 2005 and their diagnoses. Results. Pediatric dermatology accounts for 12.1 % of the work load in our department (1’329/10’998 patients were # 16 years old). By disease groups, tumors and infections were the most common diagnoses and accounted for 55.4 % of all cases. A long way behind was eczema (15.0 %) and diseases affecting hair follicles, nails, and sweat and sebaceous glands (8.8 %). The most common individual diagnosis was melanocytic nevus (19.8 %), followed by viral warts (12.1 %), atopic dermatitis (8.9 %), molluscum contagiosum (8.4 %), and acne (7.0 %). Conclusions. In most developed countries, atopic dermatitis is the most common dermatologic disease in children. In our study, however, melanocytic nevus was the most common presenting complaint, reflecting perhaps that there are more children in Spain with multiple nevi due to overexposure to sunlight or because of concern about melanoma among the population. Another possibility is that Spain has fewer cases of atopic dermatitis than more industrialized countries in northern Europe. Measures to avoid exposure to sunlight and use of sunscreen should be promoted during infancy. This could help slow the increase of melanoma in the adult population (AU)

[Bart syndrome associated to lethal junctional epidermolysis bullosa (Herlitz form)]. / Síndrome de Bart asociado a epidermólisis ampollosa hereditaria letal (Herlitz).

We present the case of a newborn with congenital absence of skin in the anterior part of the left leg that shortly after developed bulla and erosions in hands, feet, ears, buttocks and mouth. The cutaneous biopsy and ultrastructural and immunohistochemical studies showed a subepidermal bulla in the lamina lucida, absence of hemidesmosomes and marked decrease of laminin 5, thus establishing the diagnosis of Bart syndrome associated to the Herlitz form of lethal junctional epidermolysis bullosa. Bart syndrome consists of congenital and localized absence of skin, nail abnormalities and mucoc-cutaneous bullae. It is usually associated to dystrophic epidermolysis bullosa. The Herlitz form of junctional epidermolysis bullosa is a rare variant, usually lethal that is produced by mutations in the genes coding for the anchor protein laminin 5. To our knowledge this is the second case that reports an association between Bart syndrome and lethal junctional epidermolysis bullosa and the first in which the results of immunofluorescence mapping are published.

Síndrome de Bart asociado a epidermólisis ampollosa hereditaria letal (Herlitz) / Bart syndrome associated to lethal junctional epidermolysis bullosa (Herlitz form)

Presentamos el caso de un recién nacido con ausencia congénita de piel en cara anterior de pierna izquierda que poco después desarrolló ampollas y erosiones en manos y pies, pabellones auriculares, nalgas y boca. La biopsia cutánea, el estudio ultraestructural y la inmunohistoquímica mostraron una ampolla subepidérmica en la lámina lúcida, ausencia de hemidesmosomas y marcada reducción de laminina 5, estableciéndose el diagnóstico de síndrome de Bart asociado a epidermólisis ampollosa juncional tipo Herlitz. El síndrome de Bart consiste en ausencia localizada y congénita de piel, alteraciones ungueales y ampollas mucocutáneas. Suele asociarse a epidermólisis ampollosa distrófica dominante. La epidermólisis ampollosa juncional tipo Herlitz es una variante rara, habitualmente mortal, producida por mutaciones en los genes que codifican la proteína de anclaje laminina 5. Que nosotros sepamos, es el segundo caso de asociación entre síndrome de Bart y epidermólisis ampollosa letal y el primero en el que se publican los resultados del mapeo por inmunofluorescencia

We present the case of a newborn with congenital absence of skin in the anterior part of the left leg that shortly after developed bulla and erosions in hands, feet, ears, buttocks and mouth. The cutaneous biopsy and ultrastructural and immunohistochemical studies showed a subepidermal bulla in the lamina lucida, absence of hemidesmosomes and marked decrease of laminin 5, thus establishing the diagnosis of Bart syndrome associated to the Herlitz form of lethal junctional epidermolysis bullosa. Bart syndrome consists of congenital and localized absence of skin, nail abnormalities and mucoc-cutaneous bullae. It is usually associated to dystrophic epidermolysis bullosa. The Herlitz form of junctional epidermolysis bullosa is a rare variant, usually lethal that is produced by mutations in the genes coding for the anchor protein laminin 5. To our knowledge this is the second case that reports an association between Bart syndrome and lethal junctional epidermolysis bullosa and the first in which the results of immunofluorescence mapping are published

Tuberculosis cutánea por Mycobacterium tuberculosis, una patología muy poco frecuente / Cutaneous tuberculosis caused by Mycobacterium tuberculosis, an uncommon pathology

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[Primary malignant melanoma of the skin. Retrospective study of 375 cases. Clinical aspects and histology]. / Melanoma maligno cutáneo primitivo. Estudio retrospectivo de 375 casos. Clínica e histología.

The clinical and histologic features of 375 cases of primary malignant melanomas of the skin diagnosed and/or treated in the Hospital Clinic i Provincial (Barcelona, Spain) over a seven years period (1981-1987) were evaluated. The analysis of data showed many differences between these cases and those previously reported by us or from other countries. Sex incidence showed an increased frequency in women (58%), and a high incidence on lower limb in female (26% of all cases). Superficially spreading melanoma was the most common type (58%), followed by nodular melanoma (27%), acral lentiginous melanoma (8%) and lentigo maligna melanoma (6%). 57% of cases were diagnosed when the tumor thickness indicated a moderate or high-risk.

[Toxic skin reaction caused by hydantoins in a patient with AIDS]. / Toxicodermia por hidantoínas en paciente con SIDA.

A case of clinically characteristic hypersensitivity reaction to phenytoin in a AIDS patient with cerebral toxoplasmosis is reported. There was response to therapy with systemic steroids. Laboratory data and histopathologic features of the skin are reported.

[Pemphigus herpetiformis associated with neoplasm of the lung]. / Pénfigo herpetiforme asociado a neoplasia pulmonar.

We report a case of a 57 year-old male who developed atypical bullous disease and in whom an underlying carcinoma of the bronchus was found. The cutaneous eruption fulfilled the clinical, histological and immunological features of pemphigus herpetiformis. Reports of pemphigus herpetiformis and internal malignancy are extremely rare.