Caracterización clínico epidemiológica del acné conglobata en las provincias de Holguín y Granma / Clinical Epidemiological Description of Conglobate Acne in Holguin and Granma Provinces

Introducción: el acné es una de las afecciones dermatológicas más frecuentes en la práctica médica, de ellas, el acné conglobata se caracteriza por ser poco común. La génesis del acné conglobata es compleja y depende de la interacción de varios factores, entre ellos, los genéticos. Objetivo: caracterizar de forma clínica, epidemiológica e histopatológica el acné conglobata en familiares de la región Holguín -Granma. Método: se realizó un estudio de serie de casos en el período comprendido de enero 2000 a diciembre 2014. Se describió el contexto medioambiental donde se desarrollaron los enfermos. Los enfermos fueron examinados para confeccionar el árbol genealógico, se le realizó seguimiento clínico de las lesiones y biopsia para estudio histopatológico. Resultados: la enfermedad afectó a mujeres y hombres en edad antes de 21 años. Las primeras lesiones generalmente fueron noduloquísticas. Los quistes, los nódulos, los macrocomedones, los conglomerados fistulizados, las bridas cicatriciales tuvieron poca capacidad de resolución con el tratamiento convencional y alcanzaron grandes tamaños a medida que avanzó el tiempo de evolución. Las lesiones se distribuyeron con predilección en la espalda, las axilas y los glúteos. Los cambios histopatológicos fueron la hiperqueratosis con tapones córneos, las alteraciones foliculares y la presencia de los quistes de inclusión epidérmica con trayectos fistulosos. La herencia se comportó autonómico dominante. Las zonas con mayor número de casos fueron las dispuestas en las márgenes del río Cauto y en lugares aledaños. Conclusiones: se definieron los elementos diagnósticos de la enfermedad, tanto clínico y epidemiológicos, como histopatológicos.

Introduction: acne is one of the most frequent dermatology affections in medical practices, and conglobate acne is characterized as uncommon. The genesis of this illness is complicated and depends on the interaction of many factors, for example the genetic factors. Objective: to describe histopatological, epidemiological and clinically the conglobate acne incidence in some families from Holguín - Granma regions. Method: a case series study was carried out for the period from January 2000 to December 2014. The environmental context where the patients were developed was described. The patients were examined to make the family tree, clinical follow-up of lesions and biopsy for histopathological study. Results: the disease affected women and men before the age of 21. The nodule cystic lesions were the first ones. Nodules, macrocomedones, fistulized conglomerates, scar flanges had little resolution capacity with conventional treatment and reached large sizes as the evolution time advanced. The lesions were distributed with a preference in the back, underarms and glutes. Histopathological changes were hyperkeratosis with corneal plugs, follicular alterations and the presence of epidermal inclusion cysts with fistulous pathways. The inheritance behaved autonomously dominant. The areas with the highest number of cases were those located on the banks of the Cauto River and in surrounding areas. Conclusions: the diagnostic elements of the disease, both clinical and epidemiological, as well as histopathological, were defined.

Mitochondrial complex I gene variant associated with early age at onset in spinocerebellar ataxia type 2.

BACKGROUND: A common mitochondrial complex I gene polymorphism (10398G) is reported to be inversely associated with the risk of Parkinson disease. We hypothesized that this variant might have a protective effect on the central nervous system and therefore might delay the onset of symptoms in spinocerebellar ataxia type 2 (SCA2). OBJECTIVE: To assess the association of the 10398G polymorphism with age at onset in Cuban patients with SCA2. DESIGN: Genetic association study. SETTING: Holguin, Cuba. PATIENTS: Forty-six Cuban patients with SCA2. MAIN OUTCOME MEASURES: Presence or absence of the 10398G polymorphism was determined in 46 Cuban patients with SCA2 and early or late onset of symptoms, defined as at least 2 SDs lower than or higher than the mean age at onset for patients with a similarly sized triplet repeat expansion. RESULTS: The polymorphism was present in 11 of 27 Cuban patients with SCA2 and early onset (41%) vs 2 of 19 with late onset (11%) (Fisher exact test; P = .04). CONCLUSION: Contrary to our prediction of a later onset of SCA2 in patients with the 10398G polymorphism, we find that this variant is associated with an earlier age at onset in Cuban patients with SCA2.

Psychological follow-up of presymptomatic genetic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba.

Presymptomatic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba started five years ago. We have now investigated the psychological impact of test results on 150 individuals at 50% risk for SCA2. In a prospective study, psychological instruments were used to evaluate depression, anxiety and family functioning (1) before testing and (2) one year after disclosure of the test result. One year after, anxiety and depression levels decreased both in carriers and non-carriers, but anxiety decreased significantly more in carriers. Pathological levels of anxiety were seen mostly in members of dysfunctional families, but decreased more in them than in other consultands. Presymptomatic testing thus seems to have been especially beneficial for these testees, possibly due to a greater gain from the psychosocial support received. It would be pertinent to evaluate now the impact of other psychosocial variables and perform longer-term longitudinal studies.

Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2.

We assessed maximal saccade velocity (MSV) in 82 spinocerebellar ataxia type 2 (SCA2) patients and 80 controls, correlating it to disease duration, polyglutamine expansion size, age at onset, ataxia score, age, and sex. Little overlap with normal values was found even at earliest stages. Stepwise linear regression analysis showed that 60-degree MSV was strongly influenced by polyglutamine size and less by disease duration, whereas the reverse was found for ataxia score. Saccade velocity thus is a sensitive, quite specific, and objective endophenotype, useful to search polyglutamine modifier genes.