Síndrome de Bannayan-Riley-Rubalcaba en pediatría / Bannayan-Riley-Rubalcaba syndrome in pediatrics

Resumen Introducción: El síndrome de Bannayan-Riley-Ruvalcaba (SBRR) forma parte de la enfermedad de PTEN tumor-hamartoma, que comprende los síndromes de Cowden, Proteus y similar a Proteus, los cuales presentan un espectro de lesiones cutáneas, mucosas, de mama, tiroides y tracto gastrointestinal, así como polipomatosis hereditaria autosómica dominante. El SBRR se caracteriza por macrocefalia, lipomatosis, hemangiomatosis, pólipos intestinales, lentiginosis genital y discapacidad intelectual. El diagnóstico clínico y de variantes patogénicas en el gen PTEN, detectables en el 60% de los afectados, brinda la oportunidad de un manejo adecuado y de asesoramiento genético. Caso clínico: Se reporta el caso de un paciente en edad escolar que fue enviado a valoración inicial a dermatología por presentar antecedente de macrocefalia al nacimiento, lentiginosis genital, retraso en el desarrollo psicomotor y posteriormente rectorragia secundaria a polipomatosis intestinal. Se le realizó el diagnóstico clínico y molecular de SBRR. Conclusiones: El SBRR es poco frecuente, lo que puede retrasar el diagnóstico para los pacientes y los familiares en riesgo, por lo que es importante conocer sus características clínicas en el paciente pediátrico para lograr un diagnóstico y un manejo oportunos.

Abstract Background: Bannayan-Riley-Ruvalcaba syndrome (BRRS) is part of the PTEN tumor-hamartoma disease, which includes the Cowden, Proteus and Proteus-like syndromes, which present a spectrum of skin, mucosal, breast, thyroid, and gastrointestinal tract lesions, as well as autosomal dominant hereditary polypomatosis. BRRS is characterized by macrocephaly, lipomatosis, hemangiomatosis, intestinal polyps, genital lentiginosis, and intellectual disability. Clinical diagnosis and diagnosis of pathogenic variants in the PTEN gene, detectable in 60% of those affected, provides the opportunity for appropriate management and genetic counseling. Case report: We report the case of a school-age patient who was sent to an initial dermatological evaluation for presenting a history of macrocephaly at birth, genital lentiginosis, delayed psychomotor development and later rectal bleeding secondary to intestinal polypomatosis. A clinical and molecular diagnosis of BRRS was carried out. Conclusions: BRRS is rare, which can delay the diagnosis for patients and relatives at risk, so it is important to know its clinical characteristics in pediatric patients to achieve a timely diagnosis and management.

Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report / 대한소아소화기영양학회지

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the phosphatase and tensin homolog hamartoma tumor syndrome with a PTEN gene mutation. It is a rare dominant autosomal disorder characterized by cutaneous lipomas, macrocephaly, intestinal polyps, and developmental delay. Diagnosing this syndrome is important, because it may represent the pediatric phenotype of Cowden syndrome, in which there is an increased risk for malignant tumors in children. Until now, the prevalence of BRRS is unknown. Several dozen cases have been reported in the medical literature, but no case has been reported in Korea. Here we report a case of a 19-year-old girl who was diagnosed with BRRS because of macrocephaly, intellectual disability, and intestinal polyps. Her mother had similar findings and a PTEN mutation. Neither patient had mutations detected by conventional mutation-detection techniques, but a PTEN gene deletion was demonstrated by chromosomal microarray analysis.

Síndromes lentiginosos familiares / Family lentiginous syndromes

Los síndromes lentiginosos familiares (SLF)involucran un amplio espectro fenotípico, que abarcadesde una predisposiciónhereditaria a desarrollar lentigos sinenfermedad sistémica hasta un riesgo incrementado en la formación de hamartomas, hiperplasias y otras neoplasias.El prototipo de SLF es el síndrome de Peutz-Jeghers, pero también se incluyen dentro de este grupo de patologías el complejo de Carney, el síndrome LEOPARD, el síndrome de Bannayan-Riley-Ruvalcaba, la enfermedad de Cowden, el síndrome de Laugier-Hunziker, la disección arterial con lentiginosis y las lentiginosis benignas (lentiginosis unilateral parcial y centrofacial).La presencia de lentigos es uno de los hallazgos semiológicos más prominentes en estos cuadros y probablemente, más que una característica clínica asociada, sea el reflejo de la convergencia entre vías de señalización de importancia crucial para la embriogénesis, la diferenciación de la cresta neural, el crecimiento de los órganos diana y el funcionamiento de una amplia gama de tejidos.En el presente trabajo se realiza una descripción detallada de cada uno de los SLF, incluyendo el mecanismo molecular involucrado, las manifestaciones clínicas, la metodología diagnóstica, el seguimiento y el tratamiento.

Familial lentiginosis syndromes involve a broad phenotypic spectrum that includesfrom hereditary predisposition to presentlentigines without systemic disease to the increased risk of hamartomas, hyperplasia and other malignancies development.The prototype is Peutz-Jeghers syndrome, but Carney complex, LEOPARD syndrome, Bannayan-Riley-Ruvalcaba syndrome, Cowden's disease, Laugier-Hunziker syndrome, arterial dissection with lentigines and benign lentiginosis (partial and unilateral centrofaciallentigines) are also included in this group.The presence of lentigines is the most relevant finding and probably more than a clinical feature associated represents a reflection of the convergence of crucial signaling pathways that are important to embryogenesis, differentiation of the neural crest, target organs growth and funcional of a wide range of tissues.In this paper we perform a detailed description of these syndromes, including the molecular mechanisms involved, clinical manifestationsdiagnostic procedures, monitoring, and treatment.