Possible Simple Measures for Complex Wound Healing Problems in Ehlers-Danlos Syndrome
نویسندگان
چکیده
Pramod Kumar, MS, MCh, DNB, MBA King Abdulaziz Specialist Hospital Sakaka, Al-Jouf, Saudi Arabia Sir: A Hippocrates described the features of Ehlers-Danlos syndrome (EDS), it was named after 2 physicians, viz., Edvard Ehlers from Denmark and Henri-Alexandre Danlos from France, who described it at the turn of the 20th century.1 It is an inherited disorder of collagen biosynthesis and structure in humans. Joint hypermobility, skin extensibility, abnormal scarring, and tissue friability are the hallmark diagnostic features; however, EDS is underrecognized because when the physical signs are not “classic,” the diagnosis may be elusive. The medical and scientific history of EDS can be seen in 3 phases: clinical characterization, biochemical and molecular genetic analysis, and the use of high-throughput genomic analysis to extend the phenotypes. Over the last years, the characterization of several new EDS variants has broadened insights into the molecular pathogenesis of EDS by implicating genetic defects in the biosynthesis of other extracellular matrix molecules, such as proteoglycans and tenascin-X, or genetic defects in molecules involved in intracellular trafficking, secretion, and assembly of extracellular matrix proteins.2 Various types of EDS have been distinguished on clinical and genetic grounds after Villefranche classification, which are not yet incorporated into a coherent classification. Wound healing is delayed and surgical repair may be difficult because of friable tissues. There is no cure, and treatment is supportive, including close monitoring of the digestive, excretory, and particu-
منابع مشابه
Ehlers-Danlos syndrome: type VI A – kyphoscoliosis; a case report
Ehlers-Danlos syndrome (EDS) is a clinically heterogeneous groupof inherited disorders with ten different types, all involving agenetic defect in collagen and connective-tissue synthesis andstructure that affecting the skin, joints, and blood vessels. EDStype VIA, a very rare kyphoscoliotic type, is autosomal recessiveand clinically characterized by soft extensible skin, laxity ofjoints and kyp...
متن کاملEhlers-Danlos Syndrome and Skin Grafting
Ehlers-Danlos syndrome is a heritable connective tissue disorder with an estimated prevalence of one in 10,000 to 25,000 persons [1]. Using clinical phenotype, biochemical and molecular defects, as well as inheritance patterns, a total of 6 subtypes have been described [2]. Although its hallmark findings include severe joint laxity and hyperextensible skin, this condition is known to affect a v...
متن کاملاهمیت شناخت سندرم Ehlers Danlos بوسیله دندانپزشکان: گزارش یک مورد
This syndrome is a genetical disorder with symptoms result from deficit in the formation of connective tissue, especially collagen fiber biosynthesis. In these patients, there is hyperelasticity and fragility of the skin and mucosa. Injuries sever bleeding, internal bleeding and hemartrosis may be seen in these patients. Wounds leave scars after healing. There is recurrent dislocation of the jo...
متن کاملAn Iranian family with cutis laxa and classic Ehlers-Danlos syndrome
Ehlers-Danlos syndrome (EDS) is a heterogenous group of inherited disorders of connective tissue characterized by fragility of the skin and blood vessels, hyperextensibility of the skin and joint hypermobility. Cutis laxa is characteized clinically by lax, pendulous skin and histologically by loss of elastic tissue in the dermis. There are some reports of coexistence of cutis laxa with ot...
متن کاملA Case Report of Ehlers-Danlos and Goldenhar Syndromes
A 23year-old Thai female presented with skin laxity and delayed wound healing. Physical examination revealed asymmetry of face and hypertelorism of both eyes. Microtia of right ear, right periauricular pit, multiple fish mouth and cigarette paper scars were found. There were hyperextension of elbows and knees, 10 degrees and 15 degrees, respectively, Passive hyperflexion of the 5th finger more ...
متن کامل