Is Your Kid Actin Out? A Series of Six Patients With Inherited Actin-Related Protein 2/3 Complex Subunit 1B Deficiency and Review of the Literature.

BACKGROUND: Hereditary actin-related protein 2/3 complex subunit 1B deficiency is characterized clinically by ear, skin, and lung infections, bleeding, eczema, food allergy, asthma, skin vasculitis, colitis, arthritis, short stature, and lymphadenopathy. OBJECTIVE: We aimed to describe the clinical, laboratory, and genetic features of six patients from four Mexican families. METHODS: We performed exome sequencing in patients of four families with suspected actinopathy, collected their data from medical records, and reviewed the literature for reports of other patients with actin-related protein 2/3 complex subunit 1B deficiency. RESULTS: Six patients from four families were included. All had recurrent infections, mainly bacterial pneumonia, and cellulitis. A total of 67% had eczema whereas 50% had food allergies, failure to thrive, hepatomegaly, and bleeding. Eosinophilia was found in all; 84% had thrombocytopenia, 67% had abnormal-size platelets and anemia. Serum levels of IgG, IgA, and IgE were highly increased in most; IgM was normal or low. T cells were decreased in 67% of patients, whereas B and NK cells were increased in half of patients. Two of the four probands had compound heterozygous variants. One patient was successfully transplanted. We identified 28 other patients whose most prevalent features were eczema, recurrent infections, failure to thrive, bleeding, diarrhea, allergies, vasculitis, eosinophilia, platelet abnormalities, high IgE/IgA, low T cells, and high B cells. CONCLUSION: Actin-related protein 2/3 complex subunit 1B deficiency has a variable and heterogeneous clinical spectrum, expanded by these cases to include keloid scars and Epstein-Barr virus chronic hepatitis. A novel deletion in exon 8 was shared by three unrelated families and might be the result of a founder effect.

Peutz-Jeghers syndrome in pediatric patients: experience in a tertiary care institution in Mexico.

BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease characterized by the development of polyps in the gastrointestinal tract, mucocutaneous pigmentation, and the risk of developing malignant neoplasms. This study aimed to analyze the epidemiological, clinical, and histopathological data of patients with PJS treated in a tertiary pediatric hospital. METHODS: We conducted a retrospective observational study to describe the epidemiological, clinical, endoscopic, and histological characterization of patients with PJS treated in a tertiary pediatric hospital in Mexico. RESULTS: We included 13 cases with a male-female ratio of 1.16:1. Abdominal pain was the main reason for consultation, followed by rectorrhagia. Patients showed mucocutaneous pigmentation and polyps in the gastrointestinal tract, frequently of the hamartomatous type, although inflammatory polyps, follicular hyperplasia, and adenomatous polyps were also found. Among the complications, there was a high prevalence of emergency surgery secondary to abdominal obstructive processes, the main reason for first-time consultation in these patients. CONCLUSIONS: The main clinical manifestations were mucocutaneous pigmentation, abdominal pain, and rectorrhagia. PJS should be included in the differential diagnosis in the presence of intestinal obstruction. The diagnosis of PJS should not be excluded if hamartomatous polyps are not evident on the first endoscopy. Nutritional assessment should be included due to the risk of presenting some degree of malnutrition.

INTRODUCCIÓN: El síndrome de Peutz-Jeghers es una enfermedad hereditaria autosómica dominante poco frecuente, caracterizada por el desarrollo de pólipos en el tubo digestivo, pigmentación mucocutánea y riesgo de desarrollar neoplasias malignas. El objetivo de este estudio fue analizar los datos epidemiológicos, clínicos e histopatológicos de los pacientes con SPJ atendidos en un hospital pediátrico de tercer nivel. MÉTODOS: Se llevó a cabo un estudio observacional retrospectivo, para describir las características epidemiológicas, clínicas, endoscópicas e histopatológicas de los pacientes con SPJ atendidos en un hospital pediátrico de tercer nivel de atención en México. RESULTADOS: Se recopilaron 13 casos con una relación masculino-femenino de 1.16:1. El dolor abdominal fue el principal motivo de consulta, seguido por rectorragia. Los pacientes presentaban pigmentación mucocutánea y pólipos en el tubo digestivo, la mayoría del tipo hamartomatoso, aunque también se hallaron pólipos inflamatorios, hiperplasia folicular y adenomatosos. Dentro de las complicaciones se encontró una alta prevalencia de cirugías de emergencia secundarias a procesos obstructivos abdominales, motivo principal de consulta de primera vez en estos pacientes. CONCLUSIONES: Las principales manifestaciones clínicas fueron pigmentación mucocutánea, dolor abdominal y rectorragia. Ante un cuadro de obstrucción intestinal se debe considerar el SPJ en el diagnóstico diferencial. No se debe excluir el diagnóstico de SPJ si no se evidencian pólipos hamartomatosos en la primera endoscopia. Se debe incluir la valoración nutricional por el riesgo de presentar algún grado de desnutrición.

Peutz-Jeghers syndrome in pediatric patients: experience in a tertiary care institution in Mexico / Síndrome de Peutz-Jeghers en pacientes pediátricos: experiencia en una institución de tercer nivel de atención en México

Abstract Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease characterized by the development of polyps in the gastrointestinal tract, mucocutaneous pigmentation, and the risk of developing malignant neoplasms. This study aimed to analyze the epidemiological, clinical, and histopathological data of patients with PJS treated in a tertiary pediatric hospital. Methods: We conducted a retrospective observational study to describe the epidemiological, clinical, endoscopic, and histological characterization of patients with PJS treated in a tertiary pediatric hospital in Mexico. Results: We included 13 cases with a male-female ratio of 1.16:1. Abdominal pain was the main reason for consultation, followed by rectorrhagia. Patients showed mucocutaneous pigmentation and polyps in the gastrointestinal tract, frequently of the hamartomatous type, although inflammatory polyps, follicular hyperplasia, and adenomatous polyps were also found. Among the complications, there was a high prevalence of emergency surgery secondary to abdominal obstructive processes, the main reason for first-time consultation in these patients. Conclusions: The main clinical manifestations were mucocutaneous pigmentation, abdominal pain, and rectorrhagia. PJS should be included in the differential diagnosis in the presence of intestinal obstruction. The diagnosis of PJS should not be excluded if hamartomatous polyps are not evident on the first endoscopy. Nutritional assessment should be included due to the risk of presenting some degree of malnutrition.

Resumen Introducción: El síndrome de Peutz-Jeghers es una enfermedad hereditaria autosómica dominante poco frecuente, caracterizada por el desarrollo de pólipos en el tubo digestivo, pigmentación mucocutánea y riesgo de desarrollar neoplasias malignas. El objetivo de este estudio fue analizar los datos epidemiológicos, clínicos e histopatológicos de los pacientes con SPJ atendidos en un hospital pediátrico de tercer nivel. Métodos: Se llevó a cabo un estudio observacional retrospectivo, para describir las características epidemiológicas, clínicas, endoscópicas e histopatológicas de los pacientes con SPJ atendidos en un hospital pediátrico de tercer nivel de atención en México. Resultados: Se recopilaron 13 casos con una relación masculino-femenino de 1.16:1. El dolor abdominal fue el principal motivo de consulta, seguido por rectorragia. Los pacientes presentaban pigmentación mucocutánea y pólipos en el tubo digestivo, la mayoría del tipo hamartomatoso, aunque también se hallaron pólipos inflamatorios, hiperplasia folicular y adenomatosos. Dentro de las complicaciones se encontró una alta prevalencia de cirugías de emergencia secundarias a procesos obstructivos abdominales, motivo principal de consulta de primera vez en estos pacientes. Conclusiones: Las principales manifestaciones clínicas fueron pigmentación mucocutánea, dolor abdominal y rectorragia. Ante un cuadro de obstrucción intestinal se debe considerar el SPJ en el diagnóstico diferencial. No se debe excluir el diagnóstico de SPJ si no se evidencian pólipos hamartomatosos en la primera endoscopia. Se debe incluir la valoración nutricional por el riesgo de presentar algún grado de desnutrición.