Rodolfo Rodriguez-Jurado

Pilomatricoma is a rare benign cutaneous neoplasm that may occur more frequently in syndromic conditions such as Turner syndrome (TS). This study aimed to evaluate the prevalence and clinical characteristics of pilomatricoma and its association with clinical factors, serum vitamin D (VD) levels, and genetic variants in the VD pathway in patients with TS. Clinical variables and serum VD levels were obtained from medical records, and single-nucleotide variants in the GC, NADSYN1, and VDR genes were analyzed by allelic discrimination using real-time polymerase chain reaction. Among 97 patients with TS, six cases of histopathologically confirmed pilomatricoma were identified, corresponding to a prevalence of 6.2%, with lesions predominantly located on the head and upper extremities. Four patients (66.7%) had renal malformations. In exploratory multivariable analysis, renal malformations were significantly associated with pilomatricoma (adjusted OR = 14.2; 95% CI: 2.1–95.4; nominal p = 0.008; FDR-adjusted p = 0.032). No significant associations were observed with serum VD levels or the analyzed genetic variants. These findings suggest that pilomatricoma may be more frequent in TS than previously reported and identify an exploratory association between pilomatricoma and renal malformations. Given the small number of pilomatricoma cases, this association requires confirmation in larger independent cohorts.

INTRODUCCIÓN: El secuestro pulmonar es una malformación congénita del intestino anterior que afecta el parénquima pulmonar y su vasculatura. Consiste en tejido pulmonar no funcional, separado del árbol traqueobronquial, que recibe su irrigación de arterias sistémicas, generalmente provenientes de la aorta. Su diagnóstico se sospecha en casos de neumonía recurrente o dificultad respiratoria severa en neonatos y lactantes, con frecuencia se asocia a otras anomalías congénitas. También puede encontrarse incidentalmente en radiografías de tórax en pacientes asintomáticos, en aproximadamente el 10-20% de los casos. CASO CLÍNICO: Paciente femenino de 8 años con diagnóstico de neumonía adquirida en la comunidad. Las imágenes mostraron consolidación en los lóbulos medio e inferior derecho, con calcificaciones distróficas y broncograma aéreo. Una angiotomografía computarizada (Angio-TAC) evidenció una irrigación arterial proveniente de la pared derecha de la arteria torácica descendente. Durante una toracotomía lateral derecha, se observó un vaso aberrante originario de la aorta. CONCLUSIONES: Este caso de secuestro pulmonar intralobar basal derecho en una paciente pediátrica es un ejemplo raro de una patología que representa del 0.1 al 6.4% de las malformaciones congénitas del tracto respiratorio inferior, siendo intralobar en el 75-85% de los casos y del lado izquierdo en el 60%. Esta condición congénita poco frecuente, que suele diagnosticarse en la adultez, se sospecha en presencia de neumonías recurrentes persistentes en el mismo sitio. El tratamiento indicado es quirúrgico.

Background: MicroRNAs (miRNAs) function as post-transcriptional gene expression regulators and influence the development and progression of several cancers, yet their roles in pediatric sarcomas remain poorly defined. Methods: RNA extracted from formalin-fixed paraffin-embedded tumor tissue scrolls of 108 pediatric tumors, including 32 osteosarcoma (OS), 26 Ewing’s sarcoma (EWS), and 50 rhabdomyosarcoma (RMS) cases, were analyzed for microRNA expression using the NanoString multiplex nCounter platform that yielded information on 827 human miRNAs. The expression of candidate miRNAs was validated with in situ hybridization (miRNA-ISH) and QuPath quantification on tissue microarray slides comprising an independent set of 48 OS, 17 EWS, and 104 RMS adult and pediatric cases collectively. Results: The differential expression analysis of nCounter data identified 23 miRNAs enriched in RMS, 33 in EWS, and 45 in OS (>3 fold change and p < 0.01). miR-206 was most strongly associated (>55 fold change, p < 1 × 10⁻⁹) with RMS and demonstrated the highest sensitivity and specificity in distinguishing RMS from EWS and OS; this finding was also confirmed by miRNA-ISH. A combined signature of differentially expressed miRNAs reliably separated alveolar from embryonal RMS. The expression of miR-9-5p in EWS and miR-140-5p in OS discriminated among the different tumors and correlated with adverse patient outcome. The nCounter assay exhibited greater sensitivity than miRNA-ISH in detecting miR-206 and miR-140-5p expression. Conclusions: Collectively, these findings demonstrate that distinct miRNA profiles can differentiate pediatric sarcoma types and subtypes and offer clinically relevant insights into tumor biology, prognosis, and potential diagnostic application.

Paciente femenino de 13 años originaria y residente de Ciudad de México. Gesta 3 Para 3 Aborto 0 Cesárea 0 embarazo normo evolutivo y parto sin complicaciones. Abuela materna con diabetes mellitus tipo 2, sin antecedentes personales patológicos relevantes. Ambos padres son indocumentados tienen un local de comida rápida en California, Estados Unidos. Los hermanos de 19 y 15 años, están a cargo de la tía materna quien vive en Chalco. Vivienda con material de construcción mixta (piso de cemento, paredes de block y techo lámina galvanizada), con algunos servicios básicos intra y extra domiciliarios (Luz, agua de pipa y fosa séptica). En diciembre del 2022 presentó contusión en región inguinal derecha, detectando un mes posterior masa en misma región de 3 cm. de diámetro, sólida, no dolorosa, no móvil. Dado que no presentaba dolor o incapacidad para realizar actividades no se atendió. En septiembre del 2023 acude a hospital general de Tláhuac por notar aumento del tamaño de masa, quien solicitó tomografía computada (TC) abdominal con contraste Intravenoso (IV), evidenciando lesión ovoidea de 83 x 58 x 37 mm. sin captación del medio de contraste, localizada en capa muscular de pared abdominal anterior y región inguinal derecha que Adolescente con sarcoma sinovial en remisión con infección por Clostridiodes difficile cepa hipervirulenta

ANTECEDENTES: Los tumores neuroblásticos derivan de células de la cresta neural, su comportamiento biológico se relaciona al grado de diferenciación, de ellos, el Ganglioneuroma es benigno; se presenta principalmente en retroperitoneo y mediastino. Se han reportado muy pocos casos en piel y aún más raros asociados a un nevo melanocítico congénito gigante. CASO CLINICO: Paciente femenino de 11 meses, que presentó desde el nacimiento dermatosis en espalda, cuello posterior y región occipital de coloración marrón oscuro, aterciopelada, nevo melanocítico congénito gigante; además, tenía un tumor en cuello posterior, pedunculado, suave, móvil, esférico de 11 cm x 8 cm de eje mayor que resultó un Ganglioneuroma cutáneo. La Resonancia de neuroeje mostró evidencia de tumor sin compromiso de columna vertebral ni canal espinal; se realizó resección completa, sin complicaciones postquirúrgicas. Actualmente en vigilancia, sin evidencia de lesión recurrente. CONCLUSIONES: El Ganglioneuroma, no suelen expresarse en piel o en sustrato con lesiones dérmicas, aunque es raro, se han reportado casos de Ganglioneuroma asociado a nevos melanocíticos congénitos; la resección completa es el tratamiento de elección. El seguimiento adecuado aunado al diagnóstico histopatológico es la clave del éxito. Las células de Schwann precursoras de la cresta neural son las responsables de la diversidad en la diferenciación, incluyendo los melanocitos y los trastornos de pigmentaciónresta neural.

The perinucleolar compartment (PNC) is a small nuclear body that plays important role in tumorigenesis. PNC prevalence correlates with poor prognosis and cancer metastasis. Its expression in pediatric Ewing sarcoma (EWS) has not previously been documented. In this study, we analyzed 40 EWS tumor cases from Caucasian and Hispanic patients for PNC prevalence by immunohistochemical detection of polypyrimidine tract binding protein and correlated the prevalence with dysregulated microRNA profiles. EWS cases showed staining ranging from 0 to 100%, which were categorized as diffuse (≥77%, n = 9, high PNC) or not diffuse (p = 0.017) and in patients who relapsed with metastatic disease (n = 4; p = 0.011). High PNC was associated with significantly shorter disease-free survival and early recurrence compared to those with low PNC. Using NanoString digital profiling, high PNC tumors revealed upregulation of eight and downregulation of 18 microRNAs. Of these, miR-320d and miR-29c-3p had the most significant differential expression in tumors with high PNC. In conclusion, this is the first study that demonstrates the presence of PNC in EWS, reflecting its utility as a predictive biomarker associated with tumor metastasis, specific microRNA profile, Hispanic ethnic origin, and poor prognosis.

Tuberculosis is considered an emerging disease worldwide; in the last 10 years, its incidence has increased to more than 9.6 million cases of active tuberculosis. In 2014, it resulted in 1.5 million patient deaths. However, oral presentation with bone involvement occurs in less than 3% of all reported cases and rarely arouses clinical suspicion on initial presentation. A 15-year-old Mexican girl who had a previous diagnosis of neurofibromatosis presented to our hospital with pain and swelling in the region of the left mandibular body since November 2011. A clinical examination revealed pain in the mandibular region, a mass of soft consistency that seemed to involve bone, and a fistula with discharge of intraoral purulent material. Additionally, tachycardia and hyperthermia were observed. The left submental and submandibular regions had a 12-cm-diameter swelling, which was well-delineated and nonerythematous. The final diagnosis was established by real-time polymerase chain reaction. The final diagnosis of rare cases of tuberculous osteomyelitis in the jaw can be established by deoxyribonucleic acid (DNA) identification of Mycobacterium tuberculosis in the lesion. Simple and fast complementary diagnosis by real-time polymerase chain reaction is a fundamental approach to establishing early and effective pharmacological and surgical treatment.

Indeterminate cell histiocytosis is a rare disorder involving altered homing mechanisms of the cutaneous histiocytic/dendritic system. It has been described predominantly in adults, with less than a dozen cases in children. A 13-year-old adolescent girl presented with a 4-year history of asymptomatic erythematous nodules and plaques, measuring from 1 to 5 cm in diameter, that were located mainly on the trunk and proximal portions of her limbs. A skin biopsy showed dermal diffuse infiltration of histiocytic cells. Most of the histiocytic cells were strongly positive for S100 protein. No Birbeck granules were found. Treatment with topical steroid was ineffective. After 6 months of pure coal tar and 5% 5-fluorouracil cream, an almost total clearing of lesions was observed. An accurate diagnosis of this condition is mandatory in order to avoid unnecessary treatments. Conservative management is also discussed.