Retrospective study of germline variants in patients with hereditary melanoma study criteria in a real clinical practice setting.

INTRODUCTION: Five to twelve percent of melanomas show aggregation of melanomas or other related tumors within the same family or individual. Genes such as CDKN2A, or BAP1, among others, have been involved in this condition. MATERIAL AND METHODS: Retrospective descriptive study that includes patients from Cruces University Hospital (2016-2023) who met any of the following criteria: presence of two or more melanomas (1), or a melanoma and a pancreatic cancer (2) in the same individual; presence of a melanoma in an individual and one or more first- or second-degree relatives with melanoma or pancreatic cancer (3); first- or second-degree relationship with an individual with a known deleterious variant in genes related to melanoma predisposition (4); or incidental discovery of deleterious variants in genes related to predisposition to melanoma, within hereditary cancer panels carried out for reasons other than melanoma (5). RESULTS: 59 families were included (69 patients; 63.8% women), of which 8.5% (13% of patients) presented pathogenic/likely pathogenic variants (PV/LPV) in CDKN2A (6% of families and patients, excluding criteria 4 and 5), and 1.7% of families (1.4% of patients) presented PV/LPV in BAP1, BRCA2 and TERF2IP. DISCUSSION AND CONCLUSIONS: The frequencies of PV/LPV in CDKN2A are similar to those previously described. This study could contribute to the knowledge of the characteristics of patients who meet genetic study criteria for hereditary melanoma, in a setting of real clinical practice.

Skin manifestations in patients hospitalized with confirmed COVID-19 disease: a cross-sectional study in a tertiary hospital.

BACKGROUND: COVID-19 cutaneous manifestations have been recently described and classified in five different clinical patterns, including acral erythema-edema (pseudo-chilblain), maculopapular exanthemas, vesicular eruptions, urticarial lesions, and livedo or necrosis. OBJECTIVES: The objective of this study was to examine the skin of hospitalized patients with a confirmed diagnosis of COVID-19 disease and describe the real prevalence of skin manifestations. METHODS: A cross-sectional study, which included hospitalized patients in Cruces University Hospital from April 14-30, 2020, with a laboratory-confirmed diagnosis of COVID-19 (with polymerase chain reaction and/or serology tests), was conducted. Entire body surface examination was performed by experienced dermatologists to search for cutaneous manifestations related to COVID-19 disease. RESULTS: From a sample of 75 patients, 14 (18.7%) developed cutaneous manifestations possibly related to COVID-19. We found six patients with acral erythema-edema (pseudo-chilblain) (42.8%), four patients with maculopapular exanthemas (28.6%), two patients with urticarial lesions (14.3%), one patient with livedo reticularis-like lesions (7.15%), and one patient with vesicular eruption (7.15%). CONCLUSIONS: Our study provides a more plausible relationship between the main cutaneous patterns and COVID-19 in hospitalized patients as all of them had a confirmatory laboratory test. Skin manifestations are frequent but mild with spontaneous resolution. These findings are nonspecific and can be similar to other viral infections and adverse drug reactions in hospitalized patients.

Infección cutánea tras contacto con aguas residuales / Skin infection after contact with waste wáter

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Un caso de tuberculosis cutánea semejante a una vasculitis paraneoplásica / A case of cutaneous tuberculosis is simulating paraneoplastic vasculitis

Presentamos el caso de un paciente con linfoma no hodgkiniano tipo T, en remisión clínica después de tratamiento con quimioterapia y radioterapia, que ingresa por lesiones cutáneas necroticohemorrágicas en mano derecha, sospechosas de vasculitis paraneoplásica. Sin embargo, el estudio del paciente y las pruebas complementarias condujeron al diagnóstico de tuberculosis deseminada con afectación cutánea (tuberculosis miliar cutánea) y pulmonar. Se instauró tratamiento tuberculostático con resolución del cuadro clínico (AU)

We present the case of a patient with type T nonHodgkin lymphoma, in clinical remission after treatment with chemo and radiotherapy, who was hospitalized due to hemorrhagic and necrotic skin lesions on his right hand and a clinical suspicion of paraneoplasic vasculitis. Nonetheless, study of the patient and complementary testing led to the diagnosis of disseminated tuberculosis with skin and lung involvement (cutaneous milliary tuberculosis). Anti-tuberculosis treatment was initiated with a satisfactory resolution of symptoms and signs (AU)

[A Case of Cutaneous Tuberculosis is Simulating Paraneoplastic Vasculitis]. / Un caso de tuberculosis cutánea semejante a una vasculitis paraneoplásica.

We present the case of a patient with type T non-Hodgkin lymphoma, in clinical remission after treatment with chemo and radiotherapy, who was hospitalized due to hemorrhagic and necrotic skin lesions on his right hand and a clinical suspicion of paraneoplasic vasculitis. Nonetheless, study of the patient and complementary testing led to the diagnosis of disseminated tuberculosis with skin and lung involvement (cutaneous milliary tuberculosis). Anti-tuberculosis treatment was initiated with a satisfactory resolution of symptoms and signs.

Protoporfiria eritropoyética: estudio de cuatro casos y revisión de la literatura / Erythropoietic protoporphiria a studt of four cases and review of the literature

La protoporfiria eritropoyética (PPE) es una enfermedad de origen genético provocada por el déficit de la enzima ferroquelatasa. Es poco frecuente y las características clínicas más frecuentes son las manifestaciones derivadas de la fotosensibilidad. Sin embargo, muchas veces los pacientes con PPE únicamente refieren sensaciones de prurito y quemazón tras la exposición al sol sin lesiones clínicas objetivables, lo que dificulta el diagnóstico. Describimos cuatro casos de PPE que hemos estudiado en la Unidad de Fotobiología de nuestro servicio y repasamos los aspectos más importantes de esta enfermedad (AU)

Estudio comparativo de los pacientes con melanoma en el Hospital de Cruces entre las décadas 1977-86 y 1987-96 / Comparative study of the melanoma patients in the Cruces Hospital between two decades: 1977-86 and 1987-96

El melanoma constituye el tumor cutáneo con mayor incremento en su incidencia. Por otra parte, el mayor conocimiento de esta enfermedad por parte de la población y de los médicos, permite un diagnóstico cada vez más precoz que se refleja en la mayoría de las publicaciones. Para determinar las características específicas de los melanomas que vemos en nuestro hospital, hemos realizado un estudio comparativo entre los pacientes con esta patología que vimos en la década 1977-86 (G1) con los más recientes de 1987 hasta 1996 (G2). En este estudio se evidencia un incremento en la incidencia (se ha triplicado en el G2 frente al G1), el predominio constante en el sexo femenino (61 por ciento), el diagnóstico cada vez más precoz (44 por ciento <1,6mm en el G2 frente al 21 por ciento en el G1), la realización de tratamientos quirúrgicos de las lesiones primarias menos agresivos y una mejoría en la supervivencia de los pacientes (84 por ciento en el G2 frente a un 55 por ciento en el G1) (AU)