RESUMEN
BACKGROUND: Rothmund-Thomson syndrome, also known as congenital poikiloderma, is a rare autosomal recessive genodermatosis with onset in early childhood that affects at a multisystem level. CASE REPORTS: Case 1. A 4-year-old male patient, consanguineous parents, 26-year-old brother with a probable diagnosis of Rothmund-Thompson syndrome. He presented with adactyly of the right thumb, hypoplasia of the left thumb, delayed growth and psychomotor development. At 3 months, he presented rough, dry, sparse hair and erythematous lesions on the face, leaving hyperpigmented and hypopigmented spots with a reticulated pattern. We detected hypoacusis, skeletal alterations, narrow chin, short stature, severe malnutrition, and chronic and asymptomatic hypodontia. Genetic sequencing showed a mutation for the RECQL4 gene, for which a multidisciplinary follow-up was provided by the genetics, gastroenterology, nutrition, endocrinology, stomatology, audiology, orthopedics, rehabilitation, ophthalmology and oncology services. Case 2. A 2-year-old female patient presented facial erythema that spread to the arms and legs at 3 months; skin biopsy showed poikiloderma. She was evaluated by the endocrinology service and followed up for short stature and hypogonadism. A genetic study was not performed. CONCLUSIONS: Rothmund-Thomson syndrome is characterized by atrophy. Only a few cases are reported in the literature. We present two cases of Rothmund-Thomson syndrome, emphasizing its clinical and dermatological characteristics.
INTRODUCCIÓN: El síndrome de Rothmund-Thomson, también conocido como poiquilodermia congénita, es una rara genodermatosis autosómica recesiva de inicio en la infancia temprana y afectación multisistémica. CASOS CLÍNICOS: Se describen dos casos de pacientes con síndrome de Rothmund-Thomson. Caso 1. Paciente de sexo masculino de 4 años de edad, padres consanguíneos, hermano de 26 años con diagnóstico probable de síndrome de Rothmund-Thompson. Presentó adactilia del pulgar derecho, hipoplasia de pulgar izquierdo, retraso en el crecimiento y retraso del desarrollo psicomotor. A los 3 meses de edad mostraba pelo áspero, seco y escaso, y lesiones eritematosas en la cara, las cuales dejaron manchas hiperpigmentadas e hipopigmentadas con patrón reticulado. Se detectaron hipoacusia, alteraciones esqueléticas, mentón estrecho, talla baja, desnutrición grave e hipodontia crónica y asintomática. La secuenciación genética resultó con mutación para el gen RECQL4, por lo que se dio seguimiento multidisciplinario por los servicios de genética, gastroenterología, nutrición, endocrinología, estomatología, audiología, ortopedia, rehabilitación, oftalmología y oncología. Caso 2. Paciente de sexo femenino de 2 años de edad que a los 3 meses de vida inició con eritema facial que se diseminó a los brazos y la piernas; la biopsia de piel reportó poiquilodermia. Se encuentra en seguimiento por el servicio de endocrinología por talla baja e hipogonadismo. No se realizó estudio genético. CONCLUSIONES: El síndrome de Rothmund-Thomson se caracteriza por atrofia. Existen pocos casos reportados en la literatura. Se presentan dos casos de síndrome de Rothmund-Thomson, enfatizando sus características clínicas y dermatológicas.
Asunto(s)
Síndrome Rothmund-Thomson , Adulto , Niño , Preescolar , Femenino , Hospitales Pediátricos , Humanos , Masculino , México , Mutación , Síndrome Rothmund-Thomson/diagnóstico , Síndrome Rothmund-Thomson/genética , Síndrome Rothmund-Thomson/patologíaRESUMEN
Glutaredoxins are small (9-12 kDa) heat-stable proteins that are highly conserved throughout evolution; the glutaredoxin active site (Cys-Pro-Tyr-Cys) is conserved in most species. Five glutaredoxin genes have been identified in Saccharomyces cerevisiae; however, Grx2 is responsible for the majority of oxidoreductase activity in the cell, suggesting that its primary function may be the detoxification of mixed disulfides generated by reactive oxygen species (ROS). Recombinant Grx2 was expressed in Escherichia coli as a 6xHis-tagged fusion protein and purified by nickel-affinity chromatography. Prior to crystallization trials, the enzyme was submitted to various treatments with reducing agents and peroxides. Crystals suitable for X-ray diffraction experiments were obtained from untreated protein and protein oxidized with t-butyl hydroperoxide (10 mM). Complete data sets were collected to resolutions 2.15 and 2.05 A for untreated and oxidized Grx2, respectively, using a synchrotron-radiation source. The crystals belong to space group P4(1)2(1)2, with similar unit-cell parameters.