ABSTRACT
El presente estudio describe un caso de un niño de 6 años 9 meses de edad, atendido en el Centro de De-sarrollo Infantil de la Universidad de Cuenca (CEDIUC), con las características del Síndrome de Coffin Siris. El cariotipo 46xy, inv9 (p12q13), determinó por rasgos clíni-cos, el diagnóstico de Síndrome de Coffin Siris.Niño producto de cuarta gesta; antecedentes prena-tales: amenaza de aborto; antecedentes natales: nace a las 38.4 semanas de gestación con un diagnóstico de distrés respiratorio, por lo cual estuvo internado durante 15 días en la Unidad de Cuidados intensivos de la clínica Humanitaria; antecedentes post-natales: presentó retraso global en el desarrollo, además de otras afec-taciones como cardiopatía congénita, comunicación interventricular. Recibe tratamiento en varios Centros.El síndrome de Coffin-Siris es una enfermedad genética rara, con baja incidencia por lo que es poco estudiada, caracterizada por retardo mental, retraso en el desarro-llo psicomotor, facies toscas, pelo ralo e hipoplasia de la uña del quinto dedo.Se realizó una exhaustiva revisión bibliográfica, encon-trándose que el síndrome de Coffin-Siris es una enfer-medad genética poco frecuente; existen alrededor de 10 casos publicados en Latinoamérica; la etiología aún está en controversia, no ha podido definirse su localización cromosómica, pero algunos autores han plantea-do una posible herencia autosómica recesiva.
This study describes a case of a 6-years and 9-months-old child, who was attended at the Child Develop-ment Center of the University of Cuenca (CEDIUC), with the characteristics of the Coffin-Syndrome. The karyoty-pe 46xy, inv9 (p12q13), determined by clinical features the diagnosis of Coffin-Syndrome.Child product of the fourth pregnancy, prenatal history: threatened abortion; natal history: he born at 38.4 wee-ks of gestation with a diagnosis of respiratory distress, for this reason he was hospitalized for 15 days in the In-tensive Care unit of the Humanitarian clinic; post-natal history: he presented global developmental delay, in addition to other affections such as congenital heart di-sease and ventricular septal defect. He receives treat-ment in several centers.The Coffin-Siris syndrome is a rare genetic disease, with a low incidence and for this reason it is not studied enou-gh, it is characterized by mental retardation, delayed psychomotor development, coarse facies, thinning hair and hypoplasia of the fifth finger nail.A comprehensive bibliographic review was performed, and Coffin-Siris syndrome is a rare genetic disease with about 10 cases published in Latin America; the etiolo-gy is still controversial, its chromosomal location has not been defined, but some authors have raised a possible autosomal recessive inheritance.
Subject(s)
Humans , Male , Child , Syndrome , Rare Diseases , Genetic Diseases, Inborn , Congenital Abnormalities , Failure to Thrive , Heart Defects, Congenital , Intellectual DisabilityABSTRACT
Aggressive digital papillary adenoma is a rare neoplasm of eccrine sweat gland origin. We report a case of aggressive digital papillary adenoma of the fifth finger, together with a literature review.
Subject(s)
Adenoma , Fingers , Sweat GlandsABSTRACT
A 27-year-old man presented with a 6-month history of a dark-reddish nodule on the dorsal aspect of the right fifth finger. The lesion was a smooth-surfaced asymptomatic polypoid feature, measuring 0.4x0.9x0.5cm. Past and personal history were unremarkable. The excisional biopsy specimen showed numerous nests of spindle cells with some epithelioid cells in the entire dermis. The junctional activity was not present. On immunohistochemical staining, nest cells were strong positive for S-100 protein, but weak positive for HMB-45. No relapse was noted during a period of 6-month follow-up.