RESUMEN
BACKGROUND: Treacher-Collins syndrome, an autosomal dominantly inherited malformation of structures derived from the first and second branchial arch, has an incidence of 1:10,000 newborns. The prevalence of dermatomyositis at less than 24 years of age has been estimated at 1 per 100,000. The occurrence of both Treacher-Collins syndrome and dermatomyositis combined in the same patient should occur once in every 1,000,000,000 subjects. METHODS: We report a patient with Treacher-Collins syndrome who developed dermatomyositis at the age of 5 years. RESULTS: No other patient with both Treacher-Collins syndrome and an autoimmune disease has been reported. The thymus originates from the third branchial pouch and is unaffected by the syndrome. In Treacher-Collins syndrome the affected gene has been mapped to the fifth chromosome, while dermatomyositis is related to HLA B8 and DR3, coded on the sixth chromosome. No immunologic alteration has been described in patients with Treacher-Collins syndrome. CONCLUSION: This is the first report of a patient with Treacher-Collins syndrome and dermatomyositis. There is no genetic or physiopathologic explanation for the concurrence of both conditions.
Asunto(s)
Dermatomiositis/complicaciones , Disostosis Mandibulofacial/complicaciones , Antiinflamatorios/uso terapéutico , Antiinflamatorios no Esteroideos/uso terapéutico , Aspirina/uso terapéutico , Cardiotónicos/uso terapéutico , Preescolar , Dermatomiositis/tratamiento farmacológico , Dermatomiositis/patología , Digoxina/uso terapéutico , Femenino , Humanos , Disostosis Mandibulofacial/tratamiento farmacológico , Disostosis Mandibulofacial/patología , Prednisona/uso terapéutico , Piel/patologíaRESUMEN
A retrospective overhaul of all the patients with Systemic Lupus Erythematosus, deceased or followed-up for at least 5 years within the Immunology Service of the Instituto Nacional de Pediatría (Mexico), since 1970 up to december 1993. The objective was to determine overlife of mexican childs attended in a govermental institution and secondary to get information about demographic characteristics, time from inicial manifestations to diagnosis, treatment received, frequent complications, most important sequelas, and deed causes. 65 clinical records were reviewed, 86.2% females and 13.8% males, ages from 2 to 18 years old; 20 months was the average from start of illnes to definitive diagnosis. Most patient's initial treatment was prednisone and cyclophosphamide, being modified according to response evaluated by clinical al laboratory follow-up. Fifty one patients (78.5%) survived, 60% from 5 to 10 years, and 40% more than 10 years. Fourteen patients died (21.5%). Most frequent complications were local and systemic infections, hemorragic cystitis and steroidal diabetes. Principal dead cause was sepsis. Mortality en Systemic Lupus Erythematosus patients continues being high. Many factors contribute for delay diagnosis, in its way responsable for poorer pronostic. As a pediatric hospital, follow-up is end at adulthood, what makes long term follow-up limited.