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Las amebas de vida libre (AVL) de los géneros Naegleria y Acanthamoeba son reconocidos agentes causales de infecciones del sistema nervioso central. Durante los últimos años, otra ameba de vida libre, Balamuthia mandrillaris, ha sido identificada como agente etiológico de meningoencefalitis granulomatosa amebiana (MGA) en humanos. Presentamos el caso de una escolar de sexo femenino, inmunocompetente en quien se realizó el diagnóstico post mortem de MGA por este agente. Consultó por aparición de lesiones eritematosas e induradas que comprometían la zona centro-facial. En biopsia cutánea se evidenció una lesión granulomatosa con RPC positiva para secuencias génicas de Mycobacterium atípico, por lo que se inició tratamiento para micobacteriosis atípica extrapulmonar. Evolucionó con compromiso neurológico progresivo, falleciendo aproximadamente un año después de iniciar los síntomas. La necropsia reveló una MGA, cuyo estudio posterior demostró la presencia de B. mandrillaris. La infección por B. mandrillaris debe ser considerada en el diagnóstico diferencial de una enfermedad granulomatosa crónica que evoluciona con compromiso neurológico

The free-living amebas Naegleria and Acanthamoeba are recognized as causal agents of central nervous system infections. Recently a third free-living ameba, Balamuthia mandrillaris, was identified as the causal agent of granulomatous encephalitis in humans. We report a case of Balamuthia encephalitis in an immunocompetent school-age girl who presented cutaneous lesions that compromised the central portion of the face. The skin biopsy revealed granulomatous lesion with positive PCR for non-tuberculous Mycobacterium. We started treatment for atypical extrapulmonary mycobacteriosis. Nevertheless, the child was readmitted six months later, with progressive neurological involvement, dying about one year after the onset of cutaneous symptoms. The brain necropsy showed the presence of B. mandrillaris cysts and trophozoites. Balamuthia mandrillaris infection should be considered in the differential diagnosis of a patient with chronic granulomatous disease with neurologic symptoms.

La disqueratosis congénita es una genodermatosis muy poco frecuente, existiendo aproximadamente 180 casos reportados. Objetivo: Presentar el caso de un paciente de sexo masculino en quien se sospechó el diagnóstico basado en la presentación clínica, confirmado posteriormente mediante estudio molecular. Caso clínico: Escolar de sexo masculino con antecedentes de anemia refractaria a tratamiento e infecciones bacterianas severas, que se presentó clínicamente con hiperpigmentación cutánea reticular, distrofia ungueal, leucoplaquia y falla medular. En el estudio molecular se detectó una mutación del gen DKC1 que determina una sustitución aminoacídica en la posición 353 de Alanina por Valina. Discusión: La disqueratosis congénita es un desorden genético multisistémico, muy poco frecuente. Clínicamente se caracteriza por la presencia de hiperpigmentación cutánea de tipo reticular, distrofia ungueal, leucoplaquia de la mucosa oral y pancitopenia progresiva. La mutación detectada en este caso es una causa importante de Disqueratosis congénita en el mundo

Background: Pilomatrixoma is a benign tumor of the skin, preferentially found in children. The final diagnosis is made by biopsy. High resolution ultrasound (US) is a non invasive method for its diagnosis. Aim: To describe the US findings in children with pilomatrixoma. Material and methods: Fifty five patients with 62 clinically suspected pilomatrixomas were studied by US. All examinations were done with an ATL HDI 5000, linear 5-12 MHz transducer. Pathological study confirmed the diagnosis pilomatrixoma in 52 cases. Results: Fifty of 52 pilomatrixomas were diagnosed by US, with a sensitivity of 96%. The mean age of patients was 7.5 years. Forty seven lesions (90%) were located in the head, neck or upper extremities and their mean size was 8.5 mm. Thirty two lesions were hypodermal, 14 were dermohypodermal and 6 were dermal. In 44 lesions the contour was regular and non delineated, 44 lesions were oval, 41 lesions had an acoustic shadow, 36 were echogenic or hyperechogenic, 31 had a peripheral halo (60%), 55 had calcifications (98%), nine had perilesional vessels, 2 had intratumoral vessels and 7 had inflammatory changes. US excluded the diagnosis of pilomatrixoma in 10 lesions formulating a correct differential diagnosis in eight, with a specificity of 80%. Conclusions: Pilomatrixomas had two US types of presentation. The first is a well defined nodule with peripheral halo partially calcified or with microcalcifications. The second is a completely calcified nodule without peripheral halo and with a strong acoustic shadow. US is a useful, sensitive and specific diagnostic method for pilomatrixoma (Rev Med Chile 2003; 131: 735-40)