Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is characterized by an aberrant activation of the hedgehog (Hh) pathway, most cases being caused by PTCH1 mutations. However, certain features such as multiple hereditary infundibulocystic basal cell carcinomas (MHIBCC), sclerotic fibromas, childhood medulloblastoma or meningioma may be relatively specific to a SUFU mutation. We present two patients with MHIBCC, along with a more complex cutaneous and extracutaneous phenotype. MHIBCC syndrome and BCNS may share clinical features and, indeed, both syndromes probably represent different degrees of upregulation in the Hh pathway.
El pemetrexed es un antifolato empleado en el tratamiento del carcinoma de pulmón de células no pequeñas avanzado y metastásico y del mesotelioma pleural maligno, que induce reacciones adversas cutáneas en aproximadamente el 20% de los pacientes. Presentamos el caso de una reacción adversa poco frecuente inducida por pemetrexed en forma de lesiones esclerodermiformes en extremidades inferiores. Este efecto adverso cutáneo puede no ser identificado, provocando un retraso en el diagnóstico, que a menudo conduce a un empeoramiento de las lesiones y aumenta el riesgo tratamientos innecesarios y de secuelas.Palabras claves: Efectos adversos del pemetrexed; Esclerodermia localizada inducida químicamente; Efectos adversos de agentes antineoplásicos; Terapia del Carcinoma de Pulmón no microcítico
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