Síndrome del nevo basocelular: experiencia en un hospital pediátrico

Samela, Patricia C.; Tosi, V.; Cervini, Andrea Bettina; Bocian, Marcela; Buján, María Marta; Pierini, Adrián Martín

doi:10.1016/j.ad.2012.04.002

Cited by 9 publications

(1 citation statement)

References 16 publications

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“…En América del Sur, se han publicado reportes de casos en Argentina (6) , Brasil (7) , Chile (8) , Colombia (9) y Venezuela (10) . Sin embargo, su prevalencia aún no se ha determinado en los países latinoamericanos.…”

Section: Discussionunclassified

Síndrome de Carcinoma de células basales nevoides (Síndrome Gorlin): reporte de dos casos y revisión de la literatura

Castro-Mujica¹,

Barletta-Carrillo²,

Poterico³

et al. 2017

Rev Peru Med Exp Salud Publica

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RESUMENEl síndrome Gorlin (SG) es una condición genética, con patrón de herencia autosómico dominante, con penetrancia completa y expresividad variable, debida a mutaciones germinales en los genes PTCH1 o SUFU, los cuales son componentes de la vía molecular Sonic hedgehog. El SG se caracteriza por la presencia de múltiples carcinomas de células basales nevoides, quistes odontogénicos, calcificación de la hoz del cerebro y lesiones en sacabocado en palmas y plantas. Este es el primer reporte de casos en el Perú sobre pacientes con SG, que cuentan con evaluación y asesoría genética. Presentamos dos casos de SG que cumplen criterios clínicos del síndrome y una revisión de la literatura. Palabras clave: Síndrome del nevo basocelular; Carcinoma basocelular; Quistes odontogénicos; Proteínas hedgehog (fuente: DeCS BIREME). NEVOID BASAL-CELL CARCINOMA SYNDROME (GORLIN SYNDROME): REPORT OF TWO CASES AND REVIEW OF THE LITERATURE ABSTRACTGorlin syndrome (GS) is a genetic disorder with an autosomal dominant inheritance pattern, with complete penetrance and variable expressivity. GS is caused by germline mutations in the genes PTCH1 or SUFU, which are components of the Sonic hedgehog molecular pathway. GS is characterized by the presence of multiple nevoid basal cell carcinomas, odontogenic cysts, calcification of the brain sickle, and lesions in the palms and soles. This study is the first to report cases in Peru of patients with GS who underwent genetic evaluation and counseling. We present two GS cases that meet the clinical criteria for the syndrome and review the literature Keywords: Basal cell nevus syndrome, Basal cell carcinoma, Odontogenic cysts, Hedgehog proteins (source: MeSH NLM). INTRODUCCIÓNEl síndrome de carcinoma de células basales nevoides o síndrome Gorlin (SG), es una condición genética con patrón de herencia autosómica dominante, clasificado en el compendio de genes y fenotipos genéticos humanos OMIM #109400 (1) . El SG posee una penetrancia completa y expresividad variable, debida a mutaciones germinales en los genes PTCH1 (locus 9q22.32) o SUFU (locus 10q24.32) involucrados en la vía molecular Sonic Hedhehog (SHH) relacionada con funciones como la embriogénesis, carcinogénesis y reparación de tejidos (1) . La alteración de esta vía explicaría las características clínicas del SG, siendo las anomalías congénitas consecuencia de la mutación germinal del gen PTCH1, mientras que el desarrollo de los carcinomas basocelulares y otros tumores se deben a la segunda mutación que se produce en el otro alelo. Los pacientes que porten estas mutaciones, tienen una probabilidad del 50% de heredarla a su descendencia. El 70-80% de los casos de SG, se debe a que el paciente heredó la mutación de alguno de sus padres, mientras que el 20-30% restante corresponden a casos "de novo" o aislados en la familia (1) .744

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Section: Discussionunclassified

Síndrome de Carcinoma de células basales nevoides (Síndrome Gorlin): reporte de dos casos y revisión de la literatura

Castro-Mujica¹,

Barletta-Carrillo²,

Poterico³

et al. 2017

Rev Peru Med Exp Salud Publica

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Deficient expression of aldehyde dehydrogenase 1A1 is consistent with increased sensitivity of Gorlin syndrome patients to radiation carcinogenesis

et al. 2013

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Human phenotypes that are highly susceptible to radiation carcinogenesis have been identified. Sensitive phenotypes often display robust regulation of molecular features that modify biological response, which can facilitate identification of the pathways/networks that contribute to pathophysiological outcomes. Here we interrogate primary dermal fibroblasts isolated from Gorlin syndrome patients (GDFs), who display a pronounced inducible tumorigenic response to radiation, in comparison to normal human dermal fibroblasts (NHDFs). Our approach exploits newly developed thiol reactive probes to define changes in protein thiol profiles in live cell studies, which minimizes artifacts associated with cell lysis. Redox probes revealed deficient expression of an apparent 55 kDa protein thiol in GDFs from independent Gorlin syndrome patients, compared with NHDFs. Proteomics tentatively identified this protein as aldehyde dehydrogenase 1A1 (ALDH1A1), a key enzyme regulating retinoic acid synthesis, and ALDH1A1 protein deficiency in GDFs was confirmed by Western blot. A number of additional protein thiol differences in GDFs were identified, including radiation responsive annexin family members and lamin A/C. Collectively, candidates identified in our study have plausible implications for radiation health effects and cancer susceptibility.

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Treatment of basal cell carcinomas and basaloid follicular hamartomas in basal cell nevus syndrome children and adolescents

Verkouteren

Mosterd

2020

Journal of Dermatological Treatment

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Síndrome del nevo basocelular: experiencia en un hospital pediátrico

Cited by 9 publications

References 16 publications

Síndrome de Carcinoma de células basales nevoides (Síndrome Gorlin): reporte de dos casos y revisión de la literatura

Síndrome de Carcinoma de células basales nevoides (Síndrome Gorlin): reporte de dos casos y revisión de la literatura

Deficient expression of aldehyde dehydrogenase 1A1 is consistent with increased sensitivity of Gorlin syndrome patients to radiation carcinogenesis

Treatment of basal cell carcinomas and basaloid follicular hamartomas in basal cell nevus syndrome children and adolescents

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