ABSTRACT
Epidermolysis bullosa (EB) is characterized by extreme fragility of the skin and mucosae. Anesthetic and surgical techniques have to be adapted to those children and routine practice may not be adequate. Urological problems are relatively common, but surgical techniques adapted to those children have not been well debated and only low evidence is available to this moment. Herein we discuss the specifics of anesthetic and surgical techniques chosen to treat a six year old EB male presenting with symptomatic phimosis.
Subject(s)
Child , Humans , Male , Anesthesia, General/methods , Epidermolysis Bullosa Dystrophica/surgery , Phimosis/surgery , Urologic Surgical Procedures, Male/methods , Epidermolysis Bullosa Dystrophica/complications , Phimosis/etiology , Surgical Fixation Devices , Treatment Outcome , Urologic Surgical Procedures, Male/instrumentationABSTRACT
Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.
Subject(s)
Adolescent , Atrophy/etiology , Humans , Leukoplakia, Oral/etiology , Male , Phimosis/etiology , Photosensitivity Disorders/etiology , Rothmund-Thomson Syndrome/complications , Skin/pathology , Skin Diseases, Genetic/complications , Syndrome , Telangiectasis/etiologyABSTRACT
La alteraciones urológicas y sexuales más frecuentes en un gupo de 50 diabéticos juveniles insulinodependientes fueron: balanitis 56%, fimosis 46%, impotencia 32% e insensibilidad testicular 16%. Sólo el 18% de los casos resultaron normales. Los diabéticos de comienzo postpuberal presentaron una frecuencia mayor de impotencia e insensibilidad testicular, pese a tener menos años de evolución de la enfermedad, que los de iniciación prepuberal. Los reflejos aparecen abolidos en el 34% de los casos, aumentando su frecuencia con la antigüedad de la diabetes. No hubo relación entre esta alteración y el comienzo de la diabetes pre o postpuberal. En conclusión, el compromiso urológico y sexual de los diabéticos juveniles insulinodependientes es frecuente y de aparición precoz, especialmente cuando la diabetes se inicia después de la pupertad