Síndrome de úlceras en piernas de carácter familiar y comienzo precoz / Familial Leg Ulcer Syndrome of Early Onset

Introducción: Las úlceras en las piernas son llagas sin sanar o lesiones abiertas de etiología multifactorial. Constituyen una patología importante en la práctica diaria de los profesionales de la salud en todos los niveles de asistencia. Objetivo: Presentar un caso infrecuente con una afección genética hereditaria familiar que provocó lesiones ulcerosas en las extremidades inferiores. Presentación del caso: Paciente masculino de 30 años con lesiones ulcerosas en ambos miembros inferiores, de 18 años de años de evolución, muy dolorosas con signos de infección local severa. Presentó diagnóstico de úlceras inespecíficas en ambos miembros inferiores. Fue ingresado con toma de su estado general, gran limitación de la deambulación, dolor intenso en ambas piernas, lesiones abundantes ulcerosas sucias diseminadas en ambas piernas, de fondo amarillento, con secreción amarilla clara, muy fétida. Se realizó estudio clínico, humoral, imagenológico, microbiológico y anátomo-histopatológico. Conclusiones: Se diagnostica síndrome de úlceras en piernas de carácter familiar y comienzo precoz, de herencia recesiva ligada al cromosoma X. Se requieren estudios a mayor escala para evaluar las contribuciones de los factores genéticos en la génesis de esta enfermedad, los cuales podrían ser la clave para comprender mejor su desarrollo(AU)

Introduction: Leg ulcers are unhealed sores or open lesions of multifactorial etiology. They constitute an important pathology in the daily practice of health professionals at all levels of care. Objective: To report an infrequent case with a familial hereditary genetic condition that caused ulcerative lesions in the lower limbs. Case report: We report the case of a 30-year-old male patient with ulcerative lesions on both lower limbs, 18 years of evolution, very painful with signs of severe local infection. He had diagnosis of nonspecific ulcers in both lower limbs. He was admitted with poor general condition, great limitation of ambulation, intense pain in both legs, abundant dirty yellowish ulcerative lesions scattered on both legs, and light yellow, very foul-smelling discharge. A clinical, humoral, imaging, microbiological and anatomical-histopathological study was performed. Conclusions: The diagnosis was familial leg ulcer syndrome of early onset, recessive inheritance linked to the X chromosome, is diagnosed. Larger scale studies are required to assess the contributions of genetic factors in the genesis of this disease, which could be the key to better understand its development(AU)

Study on the relation between TCM constitution and familial hereditary in patients with type 2 diabetes / 国际中医中药杂志

Objective This clinical research will compare the constitution of patients with positive and negative family history in order to study on the relation between TCM constitution and the familial hereditary in type 2 diabetes patients.Methods The data of family history,general conditions,Chinese medical constitutional types of 231 type 2 DM patients in Dongzhimen Hospital were collected and analyzed.Results Among patients with family history,the number of patients' mothers with diabetes was significantly more than that of fathers'(x2=22.319,P＜0.05).There was a positive correlation between phlegm-dampness constitution r=0.215,blood stagnant constitution r=0.268 and female patients' family history(P＜0.01).And there was a positive correlation between the familial hereditary of DM and the familial hereditary of hypertension r=0.328,hyperlipidemia r=0.223,obesity r=0.151 and coronary artery diseases r=0.215.Conclusion Among type 2 DM,female had stronger familial hereditary.It indicated that diabetic mothers had a stronger influence on following generations than diabetic fathers,especially those female patients of phlegm-dampness constitution or blood stagnant constitution.There was inner correlation between the familial hereditary of DM and the familial hereditary of hypertension,hyperlipidemia,obesity and coronary artery disease.